فهرست مطالب
Iranian Journal of Pediatrics
Volume:27 Issue: 2, Apr 2017
- تاریخ انتشار: 1396/01/15
- تعداد عناوین: 24
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Page 1Context: Premature birth and the consequent neonatal intensive care unit (NICU) admission cause parents great distress, which makes them in need of support when their infant is hospitalized at the NICU.ObjectivesThe aim of this study was to determine the impact of creating opportunities for parent empowerment (COPE) program on parents mental health. This review emphasizes on mental disorders prevention.
Data Sources: This systematic review was performed by searching the databases including Cochrane Library, PubMed, Scopus, Google Scholar, Proquest, Science Direct, SID, Magiran and Iranmedex databases for interventional papers from 2000 to 2015.
Study Selection: The studies, which were considered for this review included, randomized controlled clinical trials and quasi-experimental studies on the impact of COPE program on the mental health of premature infants parents.
Data Extraction: For determination of eligible studies, two authors extracted the data independently and discrepancies were resolved through discussion or, if required, through consultation with a third author.ResultsOnly four studies conducted on the impact of COPE program on parents mental health were included in this systematic review. According to these studies, the implementation of COPE program for the parents of premature infants hospitalized at the NICU decreased stress significantly after the second phase of the COPE program (-1.72 (95% CI: -1.97, -1.47)) and state anxiety after first phase of program (-1.01 (95% CI: -1.48, -0.53)) in mothers.ConclusionsThe studies suggested the positive impact of COPE programs on parents mental health; however, more studies are recommended on all aspects of mental health along with further involvement of fathers.Keywords: Mental Health, NICU, Empowerment, Parents -
Page 2Context: Urinary tract infection (UTI) is a common and important problem during childhood that may cause chronic morbidities. Live beneficial microorganisms called probiotics have been investigated for their use in the prophylaxis and treatment of UTIs in children.
Evidence Acquisition: We aimed to discuss data about use, mechanisms and effects of probiotics on pediatric UTIs. We searched the literature, including PubMed, Medline and Cochrane databases from January 2001 to May 2016, and limited the search to English language. We used the key words probiotics, urinary tract infection, treatment, prophylaxis and children.ResultsProbiotics inhibit uropathogens by competition for receptors and nutrients, direct killing, immune modulation and production of inhibitory metabolites. There are many organisms that have been used as probiotics. Lactobacillus sp., Bifidobacterium sp. and Saccharomyces boulardii are the most commonly used and investigated probiotics. Although there are various benefits of probiotics for the pediatric population, some reports indicate rare complications such as bacteremia, sepsis, endocarditis, meningitis, UTI, abscesses, fungemia, pneumonia and chorioamnionitis. However, these are much less than the benefits of probiotics yet should be kept in mind. Continuing laboratory and clinical studies are encouraging the use of this strategy for the prevention and treatment of UTI in children.ConclusionsProbiotics can be used as a natural and efficient alternative to antibiotics in UTI prophylaxis and treatment in children.Keywords: Probiotics, Urinary Tract Infection, Treatment, Prophylaxis, Children -
Page 3ObjectivesThe present study aimed at evaluating factors affecting scar formation and tuberculin skin test (TST) response in Bacillus Calmette-Guerin (BCG) vaccinated infants.MethodsIn the current study, 216 infants with gestational age (GA) of 26 to 40 weeks and birth weight of 730 g to 4590 g were included. The mean corrected age was 6.27 ± 3.79 weeks, and the mean weight was 4442.4 ± 1084.1 g (range 2100 - 7700 g) at the time of BCG vaccination. TST was applied at 8 to 16 weeks of vaccination. Factors affecting TST response and BCG scar formation were evaluated.ResultsA scar response to BCG vaccination was found in 60%, 49.4%, and 59.7% of the infants with GA 2500 g, 1500 - 2500 g, and 10 mm developed scars ≥ 2 mm (r = 0.360; P = 0.001).ConclusionsPrematurity or birth weight does not affect BCG scar formation. TST response is lower in preterm babies. The correlation between scar formation and TST response was too low to be interpreted as positive.Keywords: Infant, Premature, Small for Gestational Age, BCG Vaccine, Vaccination, Tuberculin Test
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Page 4ObjectivesThe current study aimed to examine the effect of eating habit of children while watching TV on obesity.MethodsThe population of this descriptive study consisted of the mothers with children in the age group of three to five years, who referred to five family health centers from June to July 2015. No sampling selection was performed in the study. The study was conducted on 165 mothers, who agreed to participate in the study and their children. The data were collected with the face-to-face interview method and using a form including questions related to the socio-demographic characteristics of the mothers and children as well as the condition of children watching TV and their nutritional status. After measuring the weight and height of the children by a digital scale and a standard assessment tool by researchers, their body mass index (BMI) was calculated. Before collection of the data, the approval of the ethics committee, verbal permission from the parents and a formal written permission from the related institution were obtained. Percentage, mean and Chi-square tests were used to assess the data.ResultsAccording to the obtained results, 33.9% of the children were five years old and 52.7% were male. According to classification of BMI, 9.7% of the children were very slim, 12.7% slim, 58.8% normal, 8.5% over-weight and 10.3% obese. It was determined that 58.2% of the children ate while watching TV and 34.4% of those ate their meals once a day while watching TV.ConclusionsIt was found that more than half of the children watched TV while eating. It is suggested that nurses inform the parents about the harms of having their children eat while watching TV as well as obesity.Keywords: Obesity, Children, Television, Eating Habits
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Page 5BackgroundDuring the last decade, the rapid expansion of universal neonatal hearing screening (UNHS) has brought into focus questions about the most appropriate screening technology for this indication.ObjectivesThe main aim of this study was to examine the cost-effectiveness of automated auditory brainstem response (AABR) and otoacoustic emissions (OAE) in universal neonatal hearing screening programs.MethodsThis economic study was performed in Iran. A decision tree model was applied for economic evaluation of the AABR and OAE devices used in UNHS. The main inputs of our model included the prevalence of hearing loss in Iran, device sensitivity, specificity and cost per case, as well as definite diagnosis of each newborn. Upon collection, these inputs were analyzed with TreeAge economic analysis software. Sensitivity analysis was conducted upon examining the probability of uncertainty concerning the inputs.ResultsFor a one-year period and a one-million population of newborns, the UNHS entails a cost of $3,310,700 and detects 4,650 newborns with hearing loss, using the AABR device. However, if the OAE device is used, the cost will be expanded to $3,414,100 and 3,850 newborns with hearing loss will be detected. Consequently, the AABR device costs $103,400 less than the OAE device, and detects 800 more cases than the OAE device. Sensitivity analysis results revealed that the prevalence rate or costs of the gold standard had no effect on displacing the dominant technology.ConclusionsIn this study, it was found that the AABR is the cost-effective alternative compared to OAE. AABR dominates OAE, because it has lower expected costs and higher effectiveness.Keywords: Cost, Effectiveness Analysis, Newborn Hearing Screening, Automated Auditory Brainstem Response, Otoacoustic Emissions
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Page 6ObjectivesThis research was designed to evaluate the developmental status of children aged 4 to 60 months in Tehran city by two parent-based developmental screening questionnaires, parents evaluation of developmental status (PEDS) and ages and stages questionnaires (ASQ), and also to determine the consistency coefficient between these two tests.MethodsIn this cross-sectional study, PEDS and ASQ were performed on 648 children (350 boys and 298 girls), aged 4 to 60 (mean, 23.5 ± 16.10) months at four health centers in Tehran city.ResultsDevelopmental disorders were observed in 23.1% of children (4.6% delayed and 18.5% suspicious), who were examined by PEDS, and in 26.4% of children, who were examined by ASQ (14.7% delayed and 11.7% suspicious). The estimated values of kappa measure of agreement and Pearson Chi-Square for the results of the two screening tests were 0.30 (PConclusionsThis study showed that PEDS and ASQ have acceptable agreement, thus it seems that PEDS can be used for childrens developmental screening especially in child care visits.Keywords: Children, Development, Developmental Delay, Screening, PEDS, ASQ
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Page 7BackgroundGastrointestinal (GI) manifestations are common in patients with Henoch Schonlein Purpura (HSP) and it seems that ultrasound is the first modality for detecting GI involvement. This study was performed to evaluate the relationship between sonographic findings and clinical, and paraclinical symptoms.MethodsAll patients with HSP referred to our clinic in 2011 and 2012, were enrolled in the study. The data including sonographic and other lab tests were collected and analyzed, and the association between sonographic findings and clinical, and paraclinical symptoms were evaluated.ResultsAmong 112 patients (68 males and 44 females), 28 cases had abnormality in their sonography that was higher in patients with GI and renal symptoms. Furthermore, length of hospitalization and need for corticosteroids was greater in patients with positive sonographic findings.ConclusionsIn patients with HSP, ultrasound is a valuable modality to determine the prognosis of the disease.Keywords: Henoch Schonlein Purpura, Ultrasound, Gastrointestinal Involvement, Vasculitis, Abdominal Pain, Children
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Page 8BackgroundHemoglobulinopathies (Thalassemia, Sickle cell anemia) are an important public health challenge worldwide with an estimated number of 330,000 affected newborns annually. Delay in diagnosis not only increases the morbidity and mortality rates, but also can lead to uncertainties about success of thalassemia prevention program (TPP). This study is the first to determine the delay in thalassemia diagnosis in Iranian population.MethodsThis registry-based cross-sectional study was conducted on 1003 enrolled thalassemic patients in 2015 in Shiraz, Iran. Univariate and multivariate ordinal logistic regression models were used to assess the factors associated with delay in diagnosis.ResultsOf 981 patients, 48.5% were female, 71.2% were thalassemia major, and 23.8% were death cases. The delay in diagnosis was observed among 64.9% of the patients with a mean of 13.4 months (95% CI: 10.9, 15.9). Multivariate ordinal logistic regression showed that girls (adjusted OR = 1.32), and dead patients (adjusted OR = 1.95) were more likely to have delayed diagnosis. There was an increasing trend of risk in delayed diagnosis associated with one-year per birth cohort. The ORs were 1.0, 1.52, 1.55, and 2.22, for birth cohort 1980 and earlier, 1981 - 1990, 1991 - 2000, and 2001 to the present, respectively (P for trend = 0.014). In addition, the odds of delayed diagnosis in thalassemia major patients were significantly 0.58 times lower than those with thalassemia intermedia.ConclusionsA high proportion of delayed diagnosis was found. These results could explain the poor outcomes for thalassemia patients. Educational programs for community and revising the TPP are required for early detection of the disease.Keywords: Delayed Diagnosis, Thalassemia, Sickle Cell Anemia, Iran
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Page 9BackgroundObesity in children and adolescents is a serious public-health concern, and obesity research has become an important field of study.ObjectivesThe aim of this study was to determine the prevalence and risk factors of overweight and obesity in elementary-school children from the first to eighth grade.MethodsThis is a descriptive, cross-sectional study. The research sample included 3,028 children from seven elementary schools selected according to stratified random sampling. The data were obtained using a demographic form and a 25-question survey. Each childs height and weight were measured by the researchers. The data were analyzed by frequency and logistic regression in the statistical package for the social sciences and Excel programs.ResultsThe children were all between 5 and 15 years old. 51.2% of the children were male, 13.4% were overweight (between 85 and 95th percentile) according to the Body Mass Index, and 8.7% were obese (above 95th percentile). Risk factors for obesity included having moderate (OR:2.57, 95%,CI: 1.10 - 6.00) or high socioeconomic status (OR:2.97, CI: 1.26 - 6.98), mothers university education (OR:2.34, CI: 1.16 - 4.74), overweight or obese mother (OR:2.00, CI: 1.14 - 3.52), overweight or obese father (OR:1.96, CI: 1.06 - 3.62), and consuming milk pudding more than 4 times per week (OR:2.76, CI: 1.21 - 6.26). Consuming nuts more than 4 times per week was a preventive factor against being overweight (OR:0.36, CI: 0.26 - 0.78) and obese (OR:0.01, CI: 0.20 - 0.85). Risk factors for overweight included being male, traveling to school by car, mother with higher education levels, and overweight or obese parents.ConclusionsChildhood overweight and obesity are important problems that must be resolved. Pediatric nurses can play an important role in the identification of overweight and obese children in schools. They can organize obesity-prevention programs for groups at risk.Keywords: Childhood Obesity, Children, Risk Factor, Nursing
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Page 10BackgroundCircumcision is one of the most common surgical procedures performed on males, in which the foreskin of the penis is removed.ObjectivesThe purpose of this study was to understand the experiences and views of boys regarding circumcision, and to analyze the medical and cultural aspects of circumcision.MethodsThe sample of this descriptive study consisted of 326 boys aged 7 to 14 years, who were studying at three schools in the center of a city in the north of Turkey. The data were collected through a questionnaire and were analyzed using numbers, percentages and chi-square tests on SPSS16.0.ResultsThe average age of the children, who participated in the study was 10.41 ± 1.87. It was found that over one quarter of the children were not consulted before circumcision while 55.8% received information from family members and 16.9% were given information from their physician. As for the reasons that circumcision was performed, 69.3% said it was due to religious beliefs and 55.8% said it was because they wanted to be a man. Fifty-one point eight percent of the children stated that they thought the circumcision ceremony was necessary. Of the children, who participated in the study, 64.7% stated that they experienced different levels of fear during circumcision, 54.6% stated that they experienced different levels of pain and 48.2% stated that they felt grief. A significant relationship was found between the person, who performed the circumcision, the place where it was performed, the type of anesthesia used and the child''s levels of pain and grief; there was also a significant relationship between the person, who performed the circumcision, the place where it was performed, the type of anesthesia used, the age at which it was performed and the level of fear (PConclusionsBoys were not adequately informed before circumcision, and this procedure was performed in almost half of the boys at an unsuitable age and outside the hospital environment, and the boys experienced too much pain and fear during the process. A significant relationship was found with the person, who performed the circumcision.Keywords: Circumcision, Child, Pain, Fear, Grief
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Page 11BackgroundHypoalbuminemia can be a life-threatening complication of severe atopic dermatitis (AD).ObjectivesThe aim of this study was to evaluate correlations between clinical features and laboratory tests of AD children with scoring atopic dermatitis (SCORAD) scores ≥ 40, according to the presence of hypoalbuminemia.MethodsChildren with AD between 3 and 24 months of age with SCORAD score ≥ 40 (n = 82), admitted to our unit from June 2007 to March 2016, were categorized to two groups of hypoalbuminemic (n = 27) and non-hypoalbuminemic (n = 55). A blood albumin level of ≤ 3.5 g/d on the first day of admission was considered as hypoalbuminemia. The results of clinical and laboratory tests of the two groups were evaluated and compared.ResultsSignificant differences were observed in different genders, age at AD onset, and duration of AD between the groups. Compared with non-hypoalbuminemia group, significantly more patients in hypoalbuminemia group had positive test results for methicillin-resistant Staphylococcus aureus (MRSA) as well as allergen sensitization (PConclusionsHypoalbuminemia in AD children with SCORAD score ≥ 40 is associated with increased complications.Keywords: Atopic dermatitis, Hypoalbuminemia, Children
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Page 12BackgroundWe evaluated endoscopic treatment of ureter stones with a holmium: yttrium-aluminum-garnet laser (Ho: YAG) lithotripter and an electrokinetic lithotripter (EKL) in children.MethodsPatients with ureteral stones, admitted to the pediatric surgery department of our hospital between November 2011 and January 2015, were evaluated retrospectively. Demographic data, initial symptoms, age, sex, stone size, preoperative renal pelvis diameter, use of a jj stent, and complications were recorded. We used a 4.5 Fr semirigid ureterorenoscope with a Ho: YAG lithotripter and an EKL to treat ureteral stones.ResultsIn patients treated with Ho: YAG lithotripter, a total of 17 ureteroscopic procedures were performed on seven female and six male children having a mean age of 7.62 ± 4.46 years. Seven of these patients had right, five had left, and one had bilateral ureteral stones, with a mean diameter of 8.96 ± 3.52 mm. Preoperative pelvis renalis diameter was 16.22 ± 11.45 mm. A jj stent was used in all patients. Abdominal pain, hematuria, nausea-vomiting, and pollakiuria were the initial symptoms with complications such as hematuria, ureteral damage, infection, and spontaneous jj stent removal. In three cases, fragmentation was not successful and we needed a second session. In the EKL group, a total of 18 ureteroscopic procedures were performed on ten female and six male children with a mean age of 6.81 ± 3.67 years. Six of these patients had right, eight had left and two had bilateral ureteral stones, with a mean diameter of 8.26 ± 2.83 mm. Mean preoperative pelvis renalis diameter was 10.18 ± 2.66 mm. No jj stent was used in these patients. Initial symptoms were abdominal pain, hematuria, nausea-vomiting, vomiting, dysuria, and pain in the costovertebral region, while hematuria was also among the postoperative complication. In two cases, fragmentation was not successful and an extra session was needed.ConclusionsEither of Ho: YAG lithotripter or EKL are effective and can be successfully used in ureteroscopic management of pediatric ureterolithiasis. The complication rate was slightly lower when an EKL was used.Keywords: Child, Urolithiasis, Lithotripsy
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Page 13BackgroundHuman herpes viruses, as common viruses, not only affect mainly the skin, mucosa, and nervous tissue, but also can cause a variety of serious diseases in children.ObjectivesThe aim of this study was to determine the sensitivity and specificity of multiplex PCR-based DNA microarray technology in comparison with PCR method and IgM ELISA.MethodsA total of 108 blood samples from children with viral infections were collected and analyzed by multiplex PCR-based DNA microarray technology, PCR method, and IgM ELISA.ResultsOf 108 specimens, 16 were positive which gave a positive rate of 14.8%. Most of the patients were infected with EBV and HCMV. The sensitivity and specificity of this technology for detecting human herpes viruses were 100% when compared to PCR method. The crude agreement between multiplex PCR-based DNA microarray technology and IgM ELISA for detecting human herpes viruses was 95.4%.ConclusionsThe results indicated that multiplex PCR-based DNA microarray technology is a rapid auxiliary diagnostic method for simultaneous detection of the seven common herpes viruses with high sensitivity and specificity.Keywords: Microarray Analysis, Herpesviruses, Children
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Page 14BackgroundSince the intraventricular hemorrhage (IVH) is still a serious problem in premature infants associated with poor neurodevelopmental outcomes, there is a need for an accessible tool in order to identify these at high risk neonates.ObjectivesTo determine if high mean platelet volume (MPV) within 24 hours of birth can identify preterm infants prone to IVH as a simple accessible test.MethodsOne hundred premature infants with gestational age (GA) ofResultsSeventy four percent of infants with IVH had an MPV of more than 11 fL compared to twenty six percent in infants without IVH (Crude OR: 10.71, 95%CI: 4.26 to 26.90, PConclusionsHigh MPV within 24 hours of birth can be determined as a simple available laboratory test for identifying NICU-admitted premature infants at risk of IVH.Keywords: Mean Platelet Volume (MPV), Preterm Infants, Intra Ventricular Hemorrhage (IVH)
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Page 15BackgroundCongenital diaphragmatic hernia (CDH) is a common congenital anomaly with significant morbidity and mortality. Few surveys have been reported regarding the prenatal status, clinical course and postnatal outcome of CDH. The symptoms and prognosis depend on the location of the defect and associated anomalies.ObjectivesThe aim of this study was to examine the effect of clinical factors on the prognosis of CDH in our pediatric hospital.MethodsWe analyzed 74 records of CDH neonates referred to our center for surgery between 2008 and 2015. We investigated the associated factors with the outcomes of CDH using the information extracted from the hospital records. The perinatal status, clinical course and the postnatal outcome were reviewed. Survival was defined as infants alive at hospital discharge.ResultsA total of 74 CDH cases were identified. Of these, 27 (36.5%) cases were females and 47 (63.5%) males. The type of hernia in 73 (98.6%) cases was Bochdaleck and 1 (1.4%) case was Morgagni. Seventeen (23.9%) cases had right-sided CDH and 57 (76.1%) cases left- sided CDH. Also, 90.5% underwent open surgery and 9.5% thoracoscopic repair. Forty-seven (63.5%) cases survived and 27 (36.5%) cases succumbed. The survival rate had a significant statistical correlation with the place of delivery. The death rate was higher in neonates referred from other hospitals in our town in comparison to other cities (P = 0.008). Also, the resuscitation history, the status at admission (intubated or not intubated) (P = 0.00), existence of skeletal anomalies (P = 0.02) and brain hemorrhage (P = 0.045) had a significant correlation with the survival rate. The side of herniation, herniated organs, type of operation (open or thoracoscopic), cardiac and renal anomalies and age at the time of surgery had no significant correlation with outcome.ConclusionsThe overall mortality rate in CDH was high in our series. Neonates with CDH should be delivered in institutes with the neonatal intensive care unit and surgery ward to prevent complications. To achieve better survival rates, pulmonary hypertension should intensively be controlled and the extracorporeal membrane oxygenation should be used in selected cases.Keywords: Congenital Diaphragmatic Hernia, Congenital Anomaly, Neonate, Bochdaleck Hernia
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Page 16BackgroundNeutropenia is a side effect of chemotherapy in children with cancer, among which, bacteremia is the most commonly documented infection. Microbiological pattern of organisms causing bacteremia differs from one medical center to another. Due to the lack of comprehensive studies in Iran on bacteremia and resistance pattern of involved bacteria in febrile neutropenic children with malignancy, this study intended to investigate bacterial factors, and their antibiotic susceptibility and resistance patterns in these children.MethodsIn a retrospective study in the Childrens hospital of Tabriz from October 2007 to October 2013, medical records of 96 children hospitalized for malignancy with febrile neutropenia and positive blood culture, were reviewed on account of isolated bacteria, and their antimicrobial susceptibility or resistance.ResultsThe mean age of the patients was 4.96 ± 3.08 years, and 52.1% (50 children) of them were female. The majority of malignant cases were hematologic with a prevalence of 60.4%, consisting of 35.4% Acute Lymphoblastic Leukemia (ALL), 15.6% Acute Myeloid Leukemia (AML), and 10.4% neuroblastoma. Among the isolated organisms from blood culture, 67.7% and 32.3% were Gram-positive and Gram-negative bacteria, respectively. Coagulase-negative staphylococci (28.1%), Staphylococcus aureus (24%), and Klebsiella pneumoniae (9.4%) were the most common isolated organisms. The rate of antibiotic susceptibility for Gram-negative organisms to ampicillin, gentamicin, ceftriaxone, ceftazidime, amikacin, imipenem, and ciprofloxacin were 61.5%, 66.7%, 37.9%, 16%, 61.5%, 85.2%, and 93.3%, respectively. In addition, 88% of coagulase-negative staphylococci and 77.3% of S. aureus isolates were oxacillin resistant. All cases of S. pneumoniae and Viridans streptococcus, and 50% of non-group A, B or D streptococci were penicillin resistant.ConclusionsThe maximum bacterial resistance was observed against older antibiotics. High rate of antibiotic resistance in most organisms, especially coagulase-negative staphylococci and Staphylococcus aureus, is a serious warning to promote the proper use of new antibiotics in empiric and prophylactic therapies.Keywords: Cancer, Febrile Neutropenia, Bacteria, Antimicrobial Susceptibility
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Page 17BackgroundThere are conflicting results about what is normal weight loss in healthy term newborns and thus, when interventions, such as supplementary feeding, should be considered.
Research Aim: The current study aimed at assessing issues affecting weight loss in the early neonatal period and explaining any connections with related factors.MethodsA prospective descriptive study was conducted on 3254 full-term, singleton newborns born at > 37 gestational weeks at a 3rd-level neonatal center in 2016.ResultsAll newborns were exclusively breastfed, 758 delivered vaginally and 670 by cesarean section, making a total of 1428 newborns were weighed. Early mean weight-loss percentages were identified as 4.23% vs. 4.29%, 4.23% vs. 4.29%, 5.88% vs. 6.65%, and 4.80% vs. 6.32% in Turkish and Syrian infants, respectively, measured at 12, 24, 48, and 72 hours of age. For gender evaluation, the early mean weight-loss percentage was 1.80% vs. 2.22%, 4.02% vs. 4.47%, 6.11% vs. 5.94%, and 5.86% vs. 5.68%, measured at 12, 24, 48, and 72 hours of age. There was no difference in weight loss according to nationality or gender between the groups. For the delivery method, there was a statistical significant difference at 24 hours, 3.88 vs. 4.59, and at 30 hours, 4.07 vs. 5.58.ConclusionsIn healthy term newborns, ethnicity and gender differences did not affect weight loss. Newborns delivered vaginally had their maximal weight loss after 42 hours as opposed to 72 hours for the ones born by cesarean section. Being aware of the delayed rate of dehydration can prevent complications and unnecessary supplementation.Keywords: Breastfeeding Experience, Breastfeeding Practices, Breastfeeding Initiation, Breastfeeding Support, Nutrition Policy -
Page 18IntroductionMerosin Deficient Congenital muscular dystrophy type 1A (MDC1A) is a rare kind of congenital muscular dystrophy.Case PresentationHere we report a Chinese case with a genetic diagnosis exposing a novel point mutation and a novel exonic deletion in the causative gene LAMA2. We collected the medical history and did physical examination for the case. A set of auxiliary examination was performed for the diagnosis. The patient exhibited notable proximal weakness and was severely hypotonic. The CK increased slightly. The brain MRI exposed leukodystrophy. The electromyogram suggested myogenic muscle damage. Merosin was completely absent in the visual field of muscle biopsy. Gene testing exposed that the proband was a compound heterozygote with a heterozygous nonsense mutation c.817A > T in exon 5 and a deletion involved exon 4 of LAMA2 gene. The point mutation derived from the mother while the exonic deletion derived from the father. The asymptomatic sister carried the point mutation c.817A > T.ConclusionsThis case expands the mutation spectrum of MDC1A and highlights that the diagnosis of MDC1A should be suspected in the presence of an elevated CK and abnormal white matter.Keywords: Congenital Muscular Dystrophy, Leukodystrophy, Mutation Analysis
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Page 22More than 200 million children in low- and middle-income countries suffer from developmental delays and / or debilities worldwide (1). Some risk factors associated with practical damage and mental developmental delay in infants and children in developing countries are as follows: Micronutrient deficiency, malnutrition, poor health and hygiene, and scarce care. Early detection of developmental problems is of importance to the wellbeing of young children and their parents. Therefore, it is essential to decrease the negative outcomes (2). The Ages and stages questionnaire (ASQ), which has largely been used in contemporary studies, is a developmental screening questionnaire designed to be completed by parents or primary caregivers of children. This questionnaire can detect those children who should be further evaluated to decide whether they are qualified for early intervention, or early childhood specific training. Sensitivity, specificity and reliability of this questionnaire (ASQ) have been reported to be 75.8%, 87.5%, and 94%, respectively (3). The ASQ is used for children aged 4 - 60 months, covering five various domains of communication, fine motor, problem solving, gross motor, and personal-social skills (1). In 2015, in a cross-sectional study in Hormozgan province (located in the extreme point of southern Iran) 23,494 twelve-month-old children were screened for development delay, using the ASQ. Among the participants, the ASQ was abnormal in 88 children. Moreover, 25% had a delay in communication domain, 29% in fine motor, 31% in problem solving, 35% in gross motor, and 26% in personal-social skills. The results revealed that delay in gross motor and problem solving were higher among all the domains. Gross motor development includes control and movement of large muscle groups such as the head, torso, arms, and legs. Gross motor skills are abilities that have been developed during early childhood, and they develop from top to bottom (4). The problem solving domain includes childs knowledge and the ability to play with toys. However, these results should not be interpreted in isolation, and decisions should be made based on other factors and the overall function of children. A systematic review summarized the results of studies and provided the best evidence for judging (5). Therefore these studies can help to identify the effective factors on delay in gross motor and problem solving domains.