Clinical presentation of McCune-Albright syndrome in males

The aims of this study were: (a) to survey gender prevalence and clinical findings at diagnosis in a series of patients who manifested at the time of this study the classical triad of McCune-Albright syndrome (MAS); (b) to investigate whether clinical presentation of MAS in boys may be different from that in girls; (c) to confirm whether boys with MAS may show a peculiar picture of testicular microlithiasis (TM) by testicular ultrasonography (US). Twenty-six patients (10 boys) with the classical clinical manifestations of MAS were recruited for the present study from the database of the Italian Multicenter Study Group on MAS. Age at diagnosis of MAS was significantly lower in girls than in boys (p < 0.025). Whilst there was no difference in the prevalence of skin and bone fibrous dysplasia for the two groups, a significantly higher prevalence of peripheral precocious puberty (PPP) was found in girls (chi2 = 6.5, p < 0.025). Moreover, PPP onset was earlier in females than in males (2.8 +/- 2.3 vs. 6.9 +/- 2.7 years, p < 0.005). In one boy, aged 2.9 years, the first clinical manifestation of MAS was monolateral testicular enlargement in the context of a picture of classical PPP. US scanning of the testes, at the time of the present study, showed bilateral hyperechogeneic multiple spots, compatible with diagnosis of TM, in 6/10 boys. CONCLUSIONS: (a) MAS is slightly more frequent in females. (b) PPP in MAS is significantly more frequent and earlier in girls. (c) PPP in boys with MAS is generally associated with bilateral testicular enlargement, but monolateral macroorchidism may also be seen. (d) TM may be another marker for MAS in males.     

Implications of incidental finding of testicular microlithiasis in paediatric patients

ObjectiveTo improve understanding of the implications of testicular microlithiasis (TM) in paediatric patients diagnosed incidentally on scrotal ultrasonography (US).Patients and methods31 boys aged 4–14 years diagnosed with TM based on US between February 2000 and September 2007 were retrospectively reviewed. Demographic data, indications for US, associated inguino-scrotal pathologies and follow-up data were collated.ResultsA total of 59 testes were evaluated. Fifty-four had TM at US. The most common indication for US was scrotal swelling (n = 17). Twenty patients (65%) had at least one associated inguino-scrotal pathology related to patent processus vaginalis, with cryptorchidism being the most frequently observed (39%). On follow up (mean 39.6 months), 6 patients documented decrease or resolution of TM, while 2 showed increase in TM density. No testicular malignancy was observed during follow up.ConclusionsTM is commonly diagnosed incidentally on US in paediatric patients. A literature review revealed few case reports on its association with testicular malignancy and a prevalence of 4.2% among asymptomatic boys. The spontaneous resolution of TM supports degeneration of seminiferous tubules as the possible cause and further questions its malignant implication. An appropriate surveillance scheme would require involvement of a well-informed patient and parent with good compliance on testicular self-examination.     

Testicular microlithiasis in patients with Down syndrome

OBJECTIVES: Testicular microlithiasis (TM) occurs with benign as well as with pathological conditions, such as testicular cancer. Since Down syndrome (DS) may be associated with increased frequency of testicular cancer, we determined the prevalence of TM in DS in patients from a DS clinic and evaluated the prevalence by age group. STUDY DESIGN: We compared results of research scrotal ultrasounds obtained from 1998 to 2001 from 92 Latino patients with DS (ages newborn to 29.7 years) and clinical ultrasounds obtained from 1998 to 2004 from 200 Latino patients without DS (ages newborn to 18.3 years). We also reviewed the medical records. RESULTS: The prevalence of TM in DS was 29%, significantly higher than the 7% found in patients without DS (P < .0001). Twenty of the 27 patients with DS and TM had no testicular pathology clinically or by history. The TM prevalence in the entire group of patients with and without DS increased with advancing age. CONCLUSIONS: We found a significantly increased prevalence of TM in DS. The clinical significance of TM needs to be investigated further.     

Short- and long-term cardiovascular effects of mixed amphetamine salts extended release in children

OBJECTIVE: To assess the short- and long-term cardiovascular effects of once-daily treatment with a mixed amphetamine salts extended-release formulation (MAS XR; Adderall XR(R)) in children age 6 to 12 years with attention-deficit/hyperactivity disorder (ADHD). STUDY DESIGN: Short-term cardiovascular effects were assessed during a 4-week, double-blind, randomized, placebo-controlled, forced-dose-titration study of once-daily 10, 20, and 30 mg MAS XR (n = 580). Long-term cardiovascular effects were assessed in 568 subjects during a 2-year, open-label extension study of MAS XR (10 to 30 mg/day). Resting sitting blood pressure and pulse were measured at baseline and weekly during the short-term study, then monthly during long-term treatment. RESULTS: Changes in blood pressure, pulse, and QT interval corrected by Bazett's formula (QTcB) in children receiving MAS XR were not statistically significantly different than those changes seen in children receiving placebo during short-term treatment. Mean increases in blood pressure after 2 years of MAS XR treatment (systolic, 3.5 mm Hg; diastolic, 2.6 mm Hg) and pulse (3.4 bpm) were clinically insignificant, and there was no apparent dose-response relationship. CONCLUSIONS: Cardiovascular effects of short- and long-term MAS XR were minimal during short- and long-term MAS XR treatment at doses of 相似文献   

Surfactant and surfactant inhibitors in meconium aspiration syndrome

Surfactant indices and inhibitors were measured in lung lavage fluid from 8 infants with meconium aspiration syndrome (MAS) who were receiving mechanical ventilation and 11 healthy control subjects. Surfactant phospholipid and surfactant protein A content in MAS was not different from that of control subjects, but concentrations of total protein, albumin, and membrane-derived phospholipid were elevated. All infants with MAS had hemorrhagic pulmonary edema. These findings reinforce the notion of MAS as a toxic pneumonitis with epithelial disruption and proteinaceous exudation.     

Overweight, family history of diabetes and attending schools of lower academic grading are independent predictors for metabolic syndrome in Hong Kong Chinese adolescents.

BACKGROUND: Overweight and metabolic syndrome (MES) are emerging in both adult and paediatric populations. AIMS: To study the prevalence of and associated risk factors for the MES, using the National Cholesterol Education Program definition, among Hong Kong Chinese adolescents studying in secondary schools. METHODS: This was a cross-sectional, population-based study. A sample of 2115 Chinese adolescents was randomly selected from 14 secondary schools throughout Hong Kong. Data on anthropometric parameters, fasting blood and urine samples were collected in the school setting. Information regarding the adolescent's family history of diabetes, perinatal history, socioeconomic status and school grading was evaluated. RESULTS: The prevalence of MES was 2.4% (95% confidence interval (CI) 1.8 to 3.1), with no significant difference between boys (2.9%) and girls (2%). The prevalence of various components of MES was 32.2% (30.2 to 34.2) for hypertension, 10.9% (9.6 to 12.2) for increased triglyceride, 9.0% (7.8 to 10.2) for central adiposity, 2.4% (1.7 to 3) for low high-density lipoprotein cholesterol and 0.3% (0.1 to 0.6) for impaired fasting glucose. On multivariate analysis, overweight (odds ratio 32.2; 95% CI 13.2 to 78.4), positive family history of diabetes (4.3; 1.3 to 14.1) and studying at schools of lower academic grading (5.5; 2.2 to 13.7) were found to be independent risk factors for MES. CONCLUSION: A comparable prevalence of MES (2%) is observed in our study group Chinese adolescent girls and in US girls (2.1%), but a lower prevalence in Chinese boys (2.9%) than in US boys (6.1%). In our study, 41.8% harbour at least one component of the syndrome. Both families and schools should be alerted to this growing epidemic.     

Percentage body fat in apparently healthy school children from northern India

Context

Increased prevalence of obesity in childhood and adolescence, defined by the use of body mass index (BMI), has drawn attention towards direct measurement of body fat

Objective

To develop age-and sex-specific reference distribution of body fat in apparently healthy North-Indian children in the age group of 7–17 years and to assess agreement between obesity (defined by BMI) and excess body fat

Design

Study subjects for this cross sectional study included1640 apparently healthy school children (825 boys; 815 girls) aged 7–17 years. Total body fat was measured by dual energy X-rays absorptiometry (DXA). The excess body fat by DXA was defined by two methods, prevalence matching and with the use of 85th and 95th centile cutoffs.

Results

The mean ± SD, 3rd, 10th, 25th, 50th, 75th, 90th and 97th centile values of percentage body fat (PBF) are presented. PBF was highly correlated with BMI in both boys and girls (all boys: r=0.76, P<0.0001; all girls r=0.81, P<0.0001). There was no significant difference noted in PBF between boys and girls at the age of 7–8 years. From 9 years onwards, girls had significantly higher PBF than boys. Moderate degree of agreement was observed between BMI and PBF by DXA by both methods.

Conclusions

Smoothened reference distribution of PBF for North-Indian children and adolescents in Delhi are provided. Indian children accumulate more body fat during peri-pubertal years in comparison with US children.     

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP.     

Wheezy baby syndrome—A possible sequelae of neonatal meconium aspiration syndrome

Forty children aged 5 months to 3 years and suffering from wheezy baby syndrome (WBS) were evaluated to find out the prevalence of neonatal meconium aspiration syndrome (MAS) from the birth records. Twelve (30%) babies with WBS were detected to have a history of MAS at birth, significant enough to require a neonatal ICU admission. In contrast, only 2% of the 50 control non wheezy babies aged 6 months-3 years had a history of neonatal meconium aspiration syndrome (p<0.001). There was no significant difference in mean number of wheezing spells over six months in the neonatal MAS positive and MAS negative groups (3.4 vs 3.2, p>0.05). Family history of atopy was present in 64.3% of wheezing subjects with normal birth records, while none had such history in babies with neonatal MAS. The results of the present study suggested an association between neonatal MAS and subsequent wheezing.     

The role of socioeconomic status, depression, quality of life, and glycemic control in type 1 diabetes mellitus

OBJECTIVE: To test the hypothesis that poor glycemic control in type 1 diabetes mellitus (T1DM) is associated with depression and poor quality of life (QOL), with a higher prevalence in persons of lower socioeconomic status (SES). STUDY DESIGN: Subjects with T1DM age 8 to 17 years (n = 222) were evaluated using the Childrens Depression Inventory, the Hollingshead Four-Factor Index to determine SES, and PedsQL questionnaires to ascertain QOL. HbAlC > 8% was considered indicative of poor glycemic control. RESULTS: A total of 110 well-controlled subjects and 112 poorly controlled subjects (HbA1C 7.1% +/- 0.7% vs 9.9% +/- 1.6%) were recruited. It was found that 9.5% of poorly controlled subjects were depressed, compared with 3% of well-controlled subjects. Logistic regression revealed a 27% increase in probability of depression per unit rise in HbA1C (P < .03). Higher SES was associated with better glycemic control (P < .0005) and QOL (P < .0005); longer duration of illness was not associated with poorer glycemic control. Diabetes QOL deteriorated with poorer glycemic control (P < .002). CONCLUSIONS: Poor glycemic control in peridatric T1DM is associated with lower SES and depression. The probability of depression increases as glycemic control worsens. Screening for depression should be routinely carried out in patients with T1DM, targeting patients with deteriorating glycemic control.     

Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

OBJECTIVE: To develop diagnostic guidelines for macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (S-JIA). STUDY DESIGN: We followed the classification criteria approach that is based on the comparison of patients with the index disease with patients with a "confusable" disease. The former group included 74 patients with S-JIA-associated MAS reported in the literature or seen by the authors; the latter group included 37 patients with S-JIA who had 51 instances of "high disease activity" seen by the authors. The relative power of clinical, laboratory, and histopathologic variables in discriminating patients with MAS from patients with high disease activity was evaluated by calculating the sensitivity rate, specificity rate, area under the receiver operating characteristic curve, and diagnostic odds ratio (DOR). The combinations of variables that led to best separation between patients and control subjects were identified through "the number of criteria present" method. RESULTS: The strongest clinical discriminators were hemorrhages (DOR = 67) and central nervous system dysfunction (DOR = 63); the strongest laboratory discriminators were decreased platelet count (DOR = 1092), increased aspartate aminotransferase (DOR = 247), leukopenia (DOR = 70), and hypofibrinogenemia (DOR = 165). The best separation between patients and control subjects occurred when any 2 or more laboratory criteria (DOR = 1309) were simultaneously present; the second best performance was provided by the presence of any 2, 3, or more clinical and/or laboratory criteria (DOR = 765 and 743, respectively). CONCLUSION: We identified preliminary diagnostic guidelines for MAS complicating S-JIA. These guidelines deserve prospective validation.     

Decreased central corneal thickness in children with Down syndrome

PURPOSE: A cross-sectional, masked, case-control study was undertaken to investigate whether central corneal thickness is affected in children with Down syndrome and to focus on its clinical significance. PARTICIPANTS AND METHODS: Twenty-eight children with Down syndrome (15 boys and 13 girls) aged 5 to 15 years and 20 age-matched and gender-matched healthy control subjects (11 boys and 9 girls) from a similar ethnic background were enrolled in the study. Central corneal thickness was measured by ultrasound pachymetry. Only the right eye of each child in each group was included in the statistical analysis. The Mann-Whitney U test was used and a P value of less than .05 was considered significant. RESULTS: The mean ages of the children with Down syndrome (9.28 +/- 3.47 years) and the healthy control subjects (8.75 +/- 3.30 years) were comparable (P > .05). Central corneal thickness values were below 500 microm in 19 (67.8%) of the 28 children with Down syndrome, 4 of which were less than 450 microm. However, all central corneal thickness measurements in the control eyes were more than 500 microm. The mean central corneal thickness in the children with Down syndrome was significantly (P < .001) less (488.39 +/- 39.87 microm) than that in the healthy control subjects (536.25 +/- 20.70 microm). Mean keratometric values were significantly (P < .001) higher in the eyes of the children with Down syndrome (46.35 +/- 1.28 D) than in the eyes of the control subjects (43.32 +/- 1.15 D). CONCLUSIONS: Children with Down syndrome had a decreased central corneal thickness compared with healthy control subjects. Decreased central corneal thickness may give an artificially low intraocular pressure measurement by applanation tonometry. Central corneal thickness must be considered when developing approaches for keratorefractive treatment of patients with Down syndrome.     

Long-term pulmonary sequelae of meconium aspiration syndrome

To determine the incidence of long-term sequelae after meconium aspiration syndrome (MAS), we studied 11 children who had MAS at age 8.2 +/- 0.2 years (mean +/- SD) and nine healthy control subjects with pulmonary function and exercise stress tests. The MAS children had evidence of mild airway obstruction, hyperinflation, and increased closing volumes in comparison with control values. During graded exercise stress tests on a treadmill, MAS children achieved normal maximal oxygen consumption and anaerobic threshold without a significant fall in arterial oxygen saturation or increase in CO2 tension. Exercise-induced bronchospasm occurred in four (36%) MAS subjects but in none of the control subjects. We conclude that children surviving MAS have long-term pulmonary sequelae, including airway obstruction, hyperinflation, elevated closing volumes, and airway hyperreactivity; yet they achieve normal aerobic capacity. These findings are similar, although less severe, than those after prematurity and bronchopulmonary dysplasia.     

Detection of Early Cardiac Dysfunction in Patients with β-Thalassemia Major and Thalassemia Trait by Tissue Doppler Echocardiography

Cardiac complications are the leading cause of death in β-thalassemia major (TM) patients. The aim of this study was to investigate the impact of iron overload on ventricular functions using conventional and tissue Doppler imaging (TDI) in patients with TM and compare them with children with thalassemia trait (TT) and healthy controls. This prospective study includes 3 groups: group 1: 29 patients with β-TM; group 2: 28 patients with TT; group 3: 29 healthy controls. Peak late relaxation velocity determined by conventional echocardiography for the right ventricle was significantly higher and the E/A ratio for the right ventricle and left ventricle were significantly lower in TM patients than the other groups (P < .05). Peak late relaxation velocity determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly higher in TM patients than the TT subjects and controls (P < .001). The E/A ratio determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly lower in group 1 than the other 2 groups (P < .001). There was a negative correlation between the ferritin level and E/A ratio for the left ventricle, interventricular septum, and right ventricle using TDI (P < .05). Conventional echocardiographic techniques have failed to distinguish ventricular functions of asymptomatic patients with TM from the subjects with TT and from normal controls when global functions were examined. The present study indicates that TDI should be used for screening of TM and TT subjects’ cardiac functions.     

Psychosocial aspects and psychiatric disorders in children with thalassemia major

β-thalassemia major (TM), a chronic, genetically determined hematological disorder, has received little investigation on the psychological aspects of the disease and the psychosocial adjustment of patients with this anemia. In the present study, the aim was to assess the mental capacity, self-image, hopelessness and anxiety displayed by children who suffered from TM, and to investigate the existence of psychiatric disorders in these children. Twenty-five children (16 boys and 9 girls) with TM, 12.0–19.6 years old, from the Hematology Unit of the Department of Pediatrics at the SSK Tepecik Teaching Hospital, were included in the study. Fifteen healthy cases matched for age, sex and socio-economic status were used as controls. The Wechsler Intelligence Scale for Children (or Wechsler Adult Intelligence Scale), Offer Self-Image Questionnaire, Beck Hopelessness Scale, Trait Anxiety Inventory, Symptom Check List (revised) and the Family Assessment Device were performed on all patients. Then, the patients were evaluated for a psychiatric disorder by a psychiatrist (according to the diagnostic criteria of the Diagnostic and Statistical Manual IV of the American Psychiatric Association). The results for the patients and control cases were compared statistically using Mann-Whitney and Kruskal-Wallis tests. Self-image was found to be significantly lower in patients with TM than in control cases (P < 0.01). Hopelessness and Trait-Anxiety scores were determined to be significantly higher in patients with TM than in control cases (P < 0.01 and P < 0.05, respectively). Eighty percent of the patients with TM have had at least one psychiatric disorder. As a result, the study showed that most of the patients with TM had severe psychosocial problems. Relying on these data, it was concluded that medical therapy of these patients should be supported with psychological aid and psychiatric treatment.     

Oral aphthous ulcers and dental enamel defects in children with coeliac disease

AIM: Coeliac disease is characterized by oral manifestations, such as dental enamel defects and recurrent oral aphthae. In this study we compared the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) between patients diagnosed with coeliac disease and healthy controls. METHODS: A total of 72 patients with coeliac disease were studied together with 162 normal healthy subjects as controls to individualize the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) in this disease. RESULTS: Dental enamel defects were found in 14/70 (20%) coeliac patients and in 9/159 (5.6%) controls. In particular, 13/53 (24.5%) coeliac patients with mixed or permanent dentition and 1/17 (5.8%) coeliac children with deciduous dentition had enamel defects. Altogether, 9/145 (6.2%) control subjects with mixed or permanent dentition had dental enamel defects. None of the controls with deciduous dentition had enamel defects. Thus, the enamel defects occurred more frequently in coeliac patients (p < 0.001). Regarding RAS, 24/72 (33.3%) coeliac patients and 38/162 (23.4%) control subjects had aphthous ulcers. Statistically significant differences were not observed between the two groups (p > 0.05). One in three coeliac subjects suffering from RAS received benefit from a gluten-free diet. CONCLUSION: In the present study, the prevalence of enamel defects was found to be greater in coeliac patients than healthy controls. Even though the prevalence of RAS in coeliac subjects varied from healthy controls, the difference was not statistically significant. However, more than 1/3 coeliac subjects suffering from RAS benefited from a gluten-free diet.     

Detection of early cardiac dysfunction in patients with β-thalassemia major and thalassemia trait by tissue doppler echocardiography

Cardiac complications are the leading cause of death in β-thalassemia major (TM) patients. The aim of this study was to investigate the impact of iron overload on ventricular functions using conventional and tissue Doppler imaging (TDI) in patients with TM and compare them with children with thalassemia trait (TT) and healthy controls. This prospective study includes 3 groups: group 1: 29 patients with β-TM; group 2: 28 patients with TT; group 3: 29 healthy controls. Peak late relaxation velocity determined by conventional echocardiography for the right ventricle was significantly higher and the E/A ratio for the right ventricle and left ventricle were significantly lower in TM patients than the other groups (P < .05). Peak late relaxation velocity determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly higher in TM patients than the TT subjects and controls (P < .001). The E/A ratio determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly lower in group 1 than the other 2 groups (P < .001). There was a negative correlation between the ferritin level and E/A ratio for the left ventricle, interventricular septum, and right ventricle using TDI (P < .05). Conventional echocardiographic techniques have failed to distinguish ventricular functions of asymptomatic patients with TM from the subjects with TT and from normal controls when global functions were examined. The present study indicates that TDI should be used for screening of TM and TT subjects' cardiac functions.     

Platelet dysfunction and increased bleeding tendency in McCune-Albright syndrome

We observed increased bleeding tendency and platelet function abnormalities in 3 boys with McCune-Albright syndrome (MAS). We speculate that platelet dysfunction contributed to excessive blood loss in our patients. This report of platelet dysfunction in MAS highlights the need for assessment of platelet functions in the condition.     

Weight-related concerns and behaviors among overweight and nonoverweight adolescents: implications for preventing weight-related disorders

OBJECTIVES: To assess weight-related concerns and behaviors in a population-based sample of adolescents and to compare these concerns and behaviors across sex and weight status. DESIGN: The study population included 4746 adolescents from St Paul or Minneapolis, Minn, public schools who completed surveys and anthropometric measurements as part of Project EAT (Eating Among Teens), a population-based study focusing on eating patterns and weight concerns among teenagers. MAIN OUTCOME MEASURES: Measured weight status, weight-related concerns (perceived weight status, weight disparity, body satisfaction, and care about controlling weight), and weight-related behaviors (general and specific weight control behaviors and binge eating). RESULTS: Weight-related concerns and behaviors were prevalent among the study population. Although adolescents were most likely to report healthy weight control behaviors (adolescent girls, 85%; and adolescent boys, 70%), also prevalent were weight control behaviors considered to be unhealthy (adolescent girls, 57%; and adolescent boys, 33%) or extreme (adolescent girls, 12%; and adolescent boys, 5%). Most overweight youth perceived themselves as overweight and reported the use of healthy weight control behaviors during the past year. However, the use of unhealthy and extreme weight control behaviors and binge eating were alarmingly high among overweight youth, particularly adolescent girls. Extreme weight control practices (taking diet pills, laxatives, or diuretics or vomiting) were reported by 18% of very overweight adolescent girls, compared with 6% of very overweight adolescent boys (body mass index, > OR = 95th percentile). CONCLUSION: Prevention interventions that address the broad spectrum of weight-related disorders, enhance skill development for behavioral change, and provide support for dealing with potentially harmful social norms are warranted in light of the high prevalence and co-occurrence of obesity and unhealthy weight-related behaviors.