Iranian Journal of Pediatrics
Year:2013 | Volume:23 | Issue:5|Papers Count:26

Objective: The most important cause of infant mortality during the first month of life is related to congenital abnormalities. Nevertheless, timely diagnosis of these diseases can reduce the severity of their effects. The present study aimed to investigate the cost-effectiveness of the neonatal screening program in Fars Province, Iran.Methods: In this study, costs of executing the screening programs, treatment of the diagnosed cases, treatment of affected, non-screened individuals, quality of life, and incremental cost-effectiveness ratios were measured in two study groups.Findings: Performing the screening programs for phenylketonuria, congenital hypothyroidism, galactosemia, and favism resulted in respectively  $3386, $13078, $19641, and $1088 saving per patient. Overall, the study results revealed the cost-effectiveness of execution of the neonatal screening program.Conclusion: Neonatal screening program is one of the health interventions which lead to long-term beneficial outcome for the patients, financial saving for the society, and improvement of the patients’ quantity as well as quality of life.

Objective: Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S alleles.Methods: In a single center study, 87 consecutive liver biopsies from infants with cholestasis were reviewed and patients with neonatal cholestasis enrolled in the study and cases with confirmed biliary tract atresia excluded. Formalin fixed paraffin embedded blocks were used for DNA extraction. AAT genotype was determined by polymerase chain reaction (PCR) assay and amplification of the two most common deficiency variants, S and Z alleles, and then sequencing of PCR products.Findings: There were 48 (55.2%) males and 39 (44.8%) females, with a median age of 60 days. Out of 87 of the study subject, 2 (2.2%) were heterozygous for the S allele, and no ZZ, SS or MZ individual was found in the patients. No other polymorphism was found in the sequencing results.Conclusion: In comparison to other populations, AAT deficiency seems not to be an important etiologic factor for neonatal cholestatic liver disease in Iran; however, further studies are recommended to estimate the true mutant gene frequencies.

Objective: The neonatal mortality rate (NMR) continues to remain quite high, one important cause being preterm deliveries. The main obstacle in the pathway towards decreasing NMR is identification of babies in need of extra care. To analyze the utility of newborn foot length as a proxy measure for birth weight and gestational age.Methods: A cross-sectional study done in a hospital of eastern India with 351 babies during 4 months. Right foot length of each recorded using a plastic, stiff ruler.Findings: 48.1% babies were preterm, 51.8% low birth weight (LBW) and 33.3% very low birth weight (VLBW). Foot length less than 7.75 cm has 92.3% sensitivity and 86.3% specificity for identification of preterm neonates. For identification of LBW babies (<2500 gm) a foot length less than 7.85cm has 100% sensitivity and 95.3% specificity. Foot length less than 6.85 cm has 100% sensitivity and 94.9% specify for identification of VLBW babies (<1500 gm).Conclusion: Foot length may be used in the identification of LBW and preterm babies who are in need of extra care.

Objective: Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients.Methods: 24 children with osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups.Findings: The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group (P<0.05). Two (8.3%) patients had aortic insufficiency and five (20%) patients had tricuspid regurgitation, three of whom had gradient>25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores>2 respectively.Conclusion: The prevalence of valvular heart diseases and aortic root dilation was higher in children with osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children.

Objective: Although there are several echocardiographic criteria, there is not yet a general consensus about the diagnosis of left ventricular noncompaction. The current criteria are mostly based on the areas with maximal noncompaction in the heart. The echocardiographer may miss this maximal point leading to a misdiagnosis. Accordingly, we suggested a new method to measure the percentage of myocardial noncompaction using two-dimensional echocardiography.Methods: In this study, the new method was examined on 4 noncompaction and 26 dilated cardiomyopathies, and 25 normal subjects. The percentage of noncompaction was measured at 3 levels (apical, papillary muscle and mitral valve) and averaged.Findings: The mean percentages of myocardial noncompaction were 3.59±2.27, 8.86±5.52 and 34.7±26.1 in the control, dilated cardiomyopathy and noncompaction groups, respectively. A value of 17% or greater could distinguish left ventricular noncompaction from dilated cardiomyopathy with 92% specificity and 100% sensitivity and from normal subjects with 100% specificity and sensitivity. This percentage had a statistically significant association with noncompacted to compacted myocardial thickness ratio (P<0.001).Conclusion: This method showed good correlations with the existing echocardiographic and magnetic resonance criteria. However, it is not dependent on finding the area of maximal involvement. Being comparable to magnetic resonance imaging in accuracy, it is easier to perform and more available.

Objective: To determine the serum levels of eotaxin, IL-13 and total IgE (TIgE) in asthmatic children during the acute and clinical remission periods, as well as the changes in pulmonary function to determine their roles, relationships and clinical significance during asthma exacerbation.Methods: A total of 30 asthmatic children and 22 healthy children were enrolled in the study. The serum eotaxin and IL-13 levels were detected using an enzyme-linked immunosorbent assay and the TIgE level was detected using a fluorescent enzyme-linked immunosorbent assay. The asthmatic children were subjected to pulmonary function tests.Findings: The serum eotaxin, IL-13 and TIgE levels of the asthmatic children during the acute period significantly differed from those during clinical remission. The serum eotaxin, IL-13 and TIgE levels of the asthmatic children during both periods significantly differed from those of healthy children (P<0.001). The serum eotaxin levels during the acute and clinical remission periods were positively correlated with serum IL-13 and with TIgE, and serum IL-13 was correlated with serum TIgE. The pulmonary function indices of asthmatic children during the acute period significantly differed from those during clinical remission (P<0.001). The serum eotaxin and IL-13 levels in the asthmatic children were positively correlated with the forced expiratory volume in 1 second (FEV1) and the peak expiratory flow (PEF) during the acute and clinical remission periods (P<0.05). However, the serum TIgE levels in asthmatic children were not significantly correlated with the FEV1 and PEF during both periods (P>0.05).Conclusion: Serum TIgE, IL-13 and eotaxin influence each other during exacerbation of bronchial asthma and influence the corresponding pathophysiologic changes. Serum IL-13 and eotaxin could be used as markers for evaluating the severity of bronchial asthma.

Objective: Posterior urethral valves (PUV) are the most common cause of bladder outlet obstruction in infancy that impair renal and bladder function. This study was planned to evaluate and record the various clinical presentations and management, complications, and surgical management and long-term outcome of PUV.Methods: In a retrospective study, 98 patients who have been treated for PUV are evaluated in Mofid Children’s Hospital from January 2007 to December 2012. Detailed history taken and paraclinical examinations were performed in each patient and diagnosis was confirmed by voiding-cysto-urethrography (VCUG). PUV had been ablated in 62 patients by electric hook, and diversion was performed in 42 (42.85%) cases. Data were analyzed by SPSS software version18.Findings: Totally 98 patients with mean age at diagnosis 62 (±13) days were included in this study. Fifty seven cases had been catheterized within one to 6 days of life (mean age one day), PUV was ablated in 62 patients by electric hook, and diversion was performed in 42 cases. The most common symptom in our group was dribbling poor stream 51% and urinary tract infection (UTI) 40.8%. There was vesico-ureteral-reflux (VUR) in 61.2%, and hydronephrosis in 82.6%. Most common associated anomaly was kidney anomalies (multicystic kidney disease and renal agenesis/dysplasia) in 8 (8.2%) patients. Twenty patients had prenatal diagnosis of PUV. Complication occurred in three (3.1%) patients. Mortality occurred in 5 (5.1%) patients.Mean follow-up period was 3.4±1.2 years (1.5 months to 5 years).Conclusion: Urinary drainage by feeding tube in early days of infancy, followed by valve ablation is the best treatment in PUV, and urinary diversion improves the outcome. VCUG is still the gold-standard imaging modality for documenting PUVs. The factors like renal dysplasia and UTI have their role in final outcome.

Objective: Headache is one of the most common neurologic problems in children and adolescents. Primary headache including migraine and tension-type headache comprises the vast majority of headaches and are associated with marked incidence, prevalence, and individual and social cost. We aimed to assess demographic characteristics and to compare some factors related to primary headaches in children/ adolescents presented to neurology clinics of Tabriz University of Medical Sciences.Methods Children from 4 to 15 years of age with the diagnosis of primary headache (migraine or tension-type headaches) who presented to the neurology clinics affiliated to Tabriz University of Medical Sciences, Tabriz, Iran from March 2009 to October 2011 are included in this cross-sectional study. Data regarding the type of headache, history of atopy, peripartum asphyxia, and breast feeding, family history of headache and the socioeconomic status of the family were collected. The diagnosis was based on the international headache society diagnostic criteria for the primary headache disorders.Findings: One hundred ninety children (107 females) with primary headache (88 patients with migraine and 102 patients with tension type headache) enrolled in the study. Peripartum asphyxia, history of atopy, family history of headache and low socioeconomic status (SES) were more common in patients with migraine (P-values: 0.007, 0.01, 0.001, 0.003; respectively).Conclusion: Physicians need to extent their knowledge regarding the primary headaches. Peripartum asphyxia, history of atopy, headache in parents and low SES have been shown in the present study to be more prevalent in patients with migraine as compared to tension-type headache.

Objective: Pneumothorax in newborns may result in a significant mortality and morbidity. To predict who will survive or die is of great importance in the clinical management. The aim of this study is to address whether assessment of pneumothorax size on chest X-ray may be a predictor of prognosis in newborns presenting with pneumothorax.Methods: Of 5929 infants admitted to our neonatal intensive care unit (NICU) from January 2007 to April 2011, 60 (1.0%) newborns presenting with pneumothorax were included in the present study. Pneumothorax size was calculated by measuring the widest transverse diameter of pneumothorax area in the posteroanterior view and dividing it by the widest transverse diameter of thoracic cavity above the diaphragm. Clinical data were collected from the patients’ records.Findings: Overall mortality rate was 30% (18 patients). Pneumothorax size was significantly higher in nonsurvivors (31.1±2.8 vs 16.4±1.4, P<0.001). The cut-off point of pneumothorax size for predicting survival was determined as 20%. The sensitivity was 72% whereas the specificity 83%. Preterm birth, low birth weight, resuscitation at birth, need for mechanical ventilation and chest tube insertion were of great significance in predicting mortality. However, of overall significant parameters, only pneumothorax size was the independent prognostic factor by regression analysis (P=0.02) Conclusion: We conclude that the calculation of pneumothorax size in the newborns is a predictor of prognosis with high sensitivity and specificity. Furthermore newborns with pneumothorax size greater than 20% are likely to have worse prognosis.

Objective: The Pediatric Risk of Mortality (PRISM) score is one of the scores used by many pediatricians for prediction of the mortality risk in the pediatric intensive care unit (PICU). Herein, we intend to evaluate the efficacy of PRISM score in prediction of mortality rate in PICU.Methods: In this cohort study, 221 children admitted during an 18-month period to PICU, were enrolled.PRISM score and mortality risk were calculated. Follow up was noted as death or discharge. Results were analyzed by Kaplan-Meier curve, ROC curve, Log Rank (Mantel-Cox), Logistic regression model using SPSS 15.Findings: Totally, 57% of the patients were males. Forty seven patients died during the study period. The PRISM score was 0-10 in 71%, 11-20 in 20.4% and 21-30 in 8.6%. PRISM score showed an increase of mortality from 10.2% in 0-10 score patients to 73.8% in 21-30 score ones. The survival time significantly decreased as PRISM score increased (P≤0.001). A 7.2 fold mortality risk was present in patients with score 21-30 compared with score 0-10. ROC curve analysis for mortality according to PRISM score showed an under curve area of 80.3%.Conclusion: PRISM score is a good predictor for evaluation of mortality risk in PICU.

Objective: Seroprevalence of H. pylori infection in Iran exceeds 65% of pediatric population. In this study, we intended to find association between the virulence genes (cagA and vacA) and clinical presentations.Methods: H. pylori isolates were achieved from the gastric mucosa of children. In each case, the gastric biopsy specimens were cultured and the organisms identified. Detection of different genotypes was carried out by PCR method.Findings: A total of 106 biopsy specimens were cultured and 33 H. pylori isolates obtained. Among these 33 H. pylori strains 24 (73%) were cagA-positive. Genotypes of vacA s1m2, s1m1, s2m2, and s2m1 were 45.5%, 30.3%, 21.2%, and 3%, respectively. Most female patients were infected with genotype s1m2. The vacA-m1 strains were significantly more common in patients with nodular gastritis. There were no statistical differences between the vacA and cagA genotypes and clinical outcomes.Conclusion: The frequency of cagA genotype was high. In this study, nodular gastritis was a common finding and was rather significantly associated with m1 allele of vacA.

Objective: The aim of this study was to determine the effect of oral ondansetron in decreasing the vomiting due to acute gastroenteritis in children.Methods: In a single center, randomized, double blind, controlled trial, the effect of oral ondansetron was compared with placebo on 176 patients between 1 and 10 years old with acute gastroenteritis. 30 minutes after drug administration, oral rehydration therapy (ORT) was initiated. Severity of vomiting was evaluated during emergency department (ED) stay and 48 hours follow up. Data were collected and analyzed by SPSS16.Findings: Fifty two of children (58.5%) were males with the mean age of 3.12 (±2.30) years. Ten patients in ondansetron and 14 in placebo group had persistent vomiting during ED stay. After analyzing, there was no significant relation between vomiting in 4 and 48 hours and need for intra venous fluid therapy between the two groups although ondansetron generally decreased ORT failure (P=0.03).Conclusion: Although administrayion of oral ondansetron in gastroenteritis could decrease failure of ORT, it seems that further well-conducted clinical studies are needed to determine effects of oral ondansetron precisely.

Objective: Children with chronic diseases such as leukemia are subjected to pain during various procedures.Injection pain in children is so important that it is considered as the most stressful aspect of their disease.Distraction is one of the easiest and least costly methods of non-pharmacological pain relief that has not been paid attention to by nurses. In the present study, the effectiveness of regular breathing method (Hey-Hu) in reduction of pain of intrathecal injection in leukemic children was evaluated.Methods: This study was conducted as a single blind randomized clinical trial among 100 patients coming to a referral hospital related to Shahid Sadoughi University of Medical Sciences, Yazd, Iran. The patients were 6-15 years old children coming to oncology ward suffering from leukemia. They were selected and randomly allocated to either regular breathing group or control group in equal numbers. The pain of children was assessed by Wong pain face scale and also general behaviors of the samples were evaluated by the researcher.In Pain Rating Scale, face 0 is considered happy because there is no hurt and face 5 denotes maximum pain.Findings: Mean pain score in the regular breathing group was significantly lesser than the control group (2.98±1.68 and 3.80±1.30, respectively; P=0.01). There was no significant difference between the two sexes but in the regular breathing group, mean pain score was significantly lower in children aged above 10 years.Conclusion: This study showed that regular breathing can significantly reduce the pain of intrathecal injection in leukemic children, especially in those aged above 10 years. Considering the key role of nurses in a health care team, the researchers hope that the results of this study can help them learn this method and implement it in hospitalized children who undergo painful procedures.

Objective: To compare Juvenile Idiopathic Arthritis (JIA) patients with and without family history of autoimmune disease with respect to clinical features and laboratory data.Methods: Sixteen JIA patients with family history of autoimmune disease were identified during study, 32 patients were chosen for comparative group from referred patients to the rheumatology clinic according to the date of referral. Two groups were compared with respect to age of onset, sex, subtype, disease activity, duration of active disease and laboratory variables.Findings: The age of onset was significantly lower in JIA patients with family history of autoimmunity (4.7 years vs.7.0 years; P=0.02), polyarthicular subtype was more frequent in patients with positive family history (50% vs.25%; P=0.04) most of JIA patients with positive family history were in the active phase at the time of study (64% vs 25%; P=0.02) and had a longer duration of active disease (21.0 months vs 12.3 months; P=0.04). Patients with positive family history had more positive ANA (43.5%% vs 12.5%; P=0.01) and also more positive ADA (75% vs 20.8%; P=0.002). Two groups were similar according to sex, and other laboratory variables.Conclusion: JIA patients with family history of autoimmune disease seem to have a more severe disease than patients without such family history, they are younger at the onset, and have mostly poyarthicular subtype. They also have more ANA and ADA positivity. These findings are different from familial JIA case-control studies according to active disease duration, subtype, and ANA positivity.

Objective: Injection of botulinum toxin into the anal sphincter is a novel and safe new treatment of chronic idiopathic constipation and anal fissure in children. The purpose of this study was to determine the utility of intra sphincteric injection of botox in the treatment of children with refractory constipation.Methods: All children who suffered from chronic constipation for more than three months, and who had not responded to medical treatment, were referred to pediatrics surgical clinic for surgical intervention by pediatric gastroenterologist. The patients were randomly divided into cases and control group. The control group received no injection and was only treated with stool softeners. The case group received this therapy in addition to injection. After the botox injection, patients were asked about the presence of the signs of constipation including painful defecation, vomiting, stool consistence, soiling and defecation interval.Findings: Defecation of painful stool existed in 88% of patients before botox injection and it was reduced to 15% after botox injection. In the control group, 90% of patients had painful defecation, which reduced to 86% after medical treatment (P=0.0001). Stool was hard in 80% of patients before was reduced to 28% after botox injection. In the control group, it existed in 81% of children and reduced to 78% after medical treatment (P=0.0001). Soiling existed in 62% of patients before and was reduced to 8% after botox injection, but in the control group it reduced from 62 % to 42.5% after medical treatment (P=0.0001). In the control group, 98% of the patients had defecation intervals more than 3 days and it was the same after medical treatment. In case group, this index before botox injection was 9.1 days, and after botox injection was reduced to 2.6 days (P=0.0001).Conclusion: Our study results showed that injection of botulinum toxin into anal sphincter is an effective and safe new treatment of chronic idiopathic constipation in children.

Objective: Very low birth weight (VLBW) infants are at high risk for morbidity and mortality. This article determines the frequency of disease, rate od survival, complications and risk factors for morbidity and mortality in VLBW neonates admitted to a level III neonatal intensive care unit (NICU) at Mahdieh Hospital in Tehran.Methods: This cross-sectional retrospective study was performed from April 2007 to March 2010 on all hospitalized VLBW neonates. Relevant pre- and peri-natal data up to the time of discharge from the hospital or death, including complications during the course of hospitalization, were collected from the case notes, documented on a pre-designed questionnaire and analyzed.Findings: Out of 13197 neonates, 564 (4.3%) were VLBW with 51.4% males. Mean gestational age was 29.6±2.5 weeks; mean birth weight 1179±257 grams. Mean birth weight, gestational age and Apgar scores were significantly higher in babies who survived than in those who died, (1275±189 vs.944±253 grams; 30.5±2.2 vs.27.5±2 weeks and 6.9±1.7 vs.5±2.1 respectively, P<0.001 in all instances). Overall survival was 70.9%; in extremely low birth weight (ELBW) newborns this figure was 33.3% rising to 84.1% in infants weighing between 1001-1500 grams. Respiratory failure resulting from RDS in ELBW babies was the major factor leading to death. Need for mechanical ventilation, pulmonary hemorrhage and gastro-intestinal bleeding were also significant predictive factors for mortality.Conclusion: Birth weight and mechanical ventilation are the major factors predicting VLBW survival.

Objective: Cholelithiasis rarely occurs in children but the increased use of ultrasonography has led to increased detection of gallstones in patients. The epidemiology and predisposing factors of cholelithiasis vary in different populations. The aim of this study was to describe the clinical presentation, predisposing factors and to evaluate management and outcome of patients referred to Amirkola Children’s Hospital jn Babol.Methods: This cohort study was performed on children with cholelithiasis referred during 2000 to 2011.Cholelithiasis was diagnosed with ultrasonography. The data was obtained based on history, physical exam, clinical and paraclinical investigations and analyzed by SPSS version 18. P-value<0.05 was considered being significant.Findings: From the 66 patients with cholelithiasis, 39 (59.1%) were males. The mean age at diagnosis was 6.6±4.5 years. The most common predisposing factor included ceftriaxone therapy (27.3%), hemolytic diseases (13.6%), hepatobiliary diseases (7.5%) and cystic fibrosis (7.5%). In 30.3% of patients, no predisposing factor was detected. The most common complaint was abdominal pain (67%). Among the patients in whom abdominal X-Ray was performed, only 20% had radiopaque gallstones; 6 (9%) patients underwent cholecystectomy.Conclusion: According to this study, ceftriaxone therapy and hemolytic diseases were the most common predisposing factors in children with cholelithiasis in our area and cholecystectomy had not been needed in most patients.

Objective: Despite progresses in surgical correction of Tetralogy of Fallot, pulmonary insufficiency and progressive dysfunction of the right ventricle impress its long-term prognosis. In this study we examined the correlations between QRS duration, pulmonary insufficiency and right ventricular performance index.Methods: We enrolled 57 repaired Tetralogy of Fallot patients. QRS duration on electrocardiogram, pulmonary regurgitation index (regurgitation time to diastolic time ratio), and right ventricular myocardial performance index were measured.Findings: There was a strong inverse correlation between QRS duration and pulmonary regurgitation index.However, significant correlation did not exist between QRS duration and right ventricular myocardial performance index. QRS duration≥160 ms predicted severe pulmonary regurgitation with 100% sensitivity and 87% specificity.Conclusion: Increased QRS duration can predict severity of pulmonary regurgitation.

Background: Tailgut cyst (TGC) is a rare congenital lesion that originates from remnants of the embryonic post-anal gut. It presents as a multilocular presacral mass mainly in young women. Microscopically, the cyst lining is composed of different types of epithelium such as stratified squamous, transitional, or glandular.Case Presentation: We present a term female newborn referred to our hospital for evaluation and management of imperforate anus. During dissection of the presacral space to release the rectum, a multicystic mass adherent to the distal part of rectum was detected and completely excised. Histopathology confirmed the TGC diagnosis.Conclusion: TGC is a very rare lesion, but it should be considered in differential diagnosis of any presacral mass, even in infancy. Complete excision is the preferred treatment and can be done more easily neonatally or in infancy.

Necrotizing fasciitis (NF) is rare in infants, and abdominal compartment syndrome (ACS) resulting from NF in an infant has not previously been reported. Proper management is challenging, including the optimal time for treatment. The authors report an infant with Pseudomonas aeruginosa and Staphylococcus epidermidis-mediated NF complicated with ACS and its successful management with combined application of negative pressure wound therapy (NPWT) and split-thickness skin grafts (STSG).

Dilated cardiomyopathy (DCM) is a cardiac muscle disease with reduced left ventricular systolic function. Myocardial inflammation is the most common mechanism in the pathogenesis of cardiomyopathy in which cytokines may play an important role. The objective of this study was to investigate the associations between tumor necrosis factor-alpha (TNF-a, -308), transforming growth factor-beta 1 (TGF-b1, +10, +25), interleukin-10 (IL-10, -1082, -819, and -592), interleukin-6 (IL-6, -174), interferon-gamma (IFN- g, +874) gene polymorphisms and DCM.

Advances in early diagnosis and treatment have increased the survival of patients with cystic fibrosis (CF) to 30-40 years of age.Interventions in nutritional status are recommended since an adequate body mass index (BMI) has been shown to be positively correlated with pulmonary function. However, the development of obesity may influence the onset of CF-related diabetes. We report here the case of a malnourished infant with CF who progressed to obesity at a reference center in the state of Sao Paulo, Brazil.

Anti-M’s are naturally occurring antibodies described by Wolff and Johnsson in 1933. They have been rarely associated as cause of diseases with different degrees of severity as intrauterine deaths or hemolytic disease of the newborn HDN. The detection of anti-M in antenatal screening is a rare finding. High titers of IgG and IgM anti-M are responsible for neonatal red cell aplasia and HDN. The MNSs blood group system is considered to be clinically insignificant as it only reacts at temperatures below 37 oC and appears to be more common in infants than in adults. MN antibodies do not usually cause severe hyperbilirubinemia.

Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected.

Gait is a complex activity based on information captured by periphery receptors and elaborated at the level of central nervous system. The age of 6 years seems to constitute a turning point in locomotor control. From about 7-8 years of life no difference to the adult pattern could be observed, even if recent studies have implied that gait maturation may continue beyond the age of 8 years and may not be complete until 13 years of age. The dynamic baropodometry is used to evaluate adolescent gait in cerebral palsy, idiopathic scoliosis, hip arthrodesis and anatomical alterations of plantar foot.

Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after. Its incidence is estimated to be 1/200, 000. NS presents in most (but not all) patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin.Other common features of the disease are enteropathy, hypoalbuminemia, aminoaciduria, mental retardation, growth retardation, and immunologic abnormalities.