Evaluation of Congenital Hypothyroidism in Fars Province,Iran

Objective

In Iran thyroid-stimulating hormone (TSH) based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism (CH). This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran.

Methods

From November 2006 to September 2007, TSH serum concentrations of 63031 newborns, 3 to 5 days old born in Fars province, were measured by heel prick. The newborns with TSH ≥5mIU/L were recalled for measurement of serumT₄ and TSH in venous blood samples

Findings

Of 127 recalled subjects, 43 were confirmed to be hypothyroid, showing a prevalence of 1:1465 with F:M ratio of 1.05:1. The most common clinical and radiological findings were prolonged jaundice (73%), large anterior fontanel (56%), wide posterior fontanel (55%), absence of distal femoral epiphysis (20%), and umbilical hernia (11%). Scintigraphy of the thyroid with ^99mTC revealed eutopia (67.4%), hypoplasia (23.3%), agenesis (4.7%) and ectopia (2.3%).

Conclusion

It is concluded that a cut off value of TSH≥5mIU/L overestimates recalling the number of patients with CH. The most common cause of congenital hypothyroidism is not dysgenesis of the gland and perhaps dyshormonogenesis in Iran is more common than what is reported in other countries.     

Cost-effectiveness analysis of a system-based approach for managing neonatal jaundice and preventing kernicterus in Ontario

OBJECTIVE:

To evaluate the incremental cost-effectiveness of a system-based approach for the management of neonatal jaundice and the prevention of kernicterus in term and late-preterm (≥35 weeks) infants, compared with the traditional practice based on visual inspection and selected bilirubin testing.

STUDY DESIGN:

Two hypothetical cohorts of 150,000 term and late-preterm neonates were used to compare the costs and outcomes associated with the use of a system-based or traditional practice approach. Data for the evaluation were obtained from the case costing centre at a large teaching hospital in Ontario, supplemented by data from the literature.

RESULTS:

The per child cost for the system-based approach cohort was $176, compared with $173 in the traditional practice cohort. The higher cost associated with the system-based cohort reflects increased costs for predischarge screening and treatment and increased postdischarge follow-up visits. These costs are partially offset by reduced costs from fewer emergency room visits, hospital readmissions and kernicterus cases. Compared with the traditional approach, the cost to prevent one kernicterus case using the system-based approach was $570,496, the cost per life year gained was $26,279, and the cost per quality-adjusted life year gained was $65,698.

CONCLUSION:

The cost to prevent one kernicterus case using the system-based approach is much lower than previously reported in the literature.     

Newborn screening for sickle cell disease: A 1988�C2003 Quebec experience

BACKGROUND

Sickle cell disease (SCD) is associated with significant mortality and morbidity that can be decreased by neonatal diagnosis. Although 44 American states have implemented such programs, there are no provincially funded universal or targeted newborn screening programs for SCD in Canada.

OBJECTIVE

To report a critical appraisal of a hospital-based neonatal screening program targeting at-risk infants over a 15-year period.

METHODS

The cord blood of infants born at Sainte-Justine University Health Centre (Sainte-Justine UHC, Montreal, Quebec) whose mother or father was black was collected at birth and analyzed for the presence of hemoglobin (Hb) S by liquid chromatography or isoelectric focusing. Samples with positive results underwent confirmatory testing.

RESULTS

A total of 9619 infants were screened: 8142 (84.6%) had a normal phenotype, 1012 (10.5%) had sickle cell trait and 386 (4.0%) had HbC trait. Seventy-two infants were diagnosed with SCD: 37 (0.4%) were classified as HbSS or HbS-beta-thalassemia and 35 (0.4%) had HbSC disease. Of these 72 infants, 67 (93.1%) were immediately enrolled in a multidisciplinary SCD follow-up clinic. The five remaining children not initially enrolled were later referred to the clinic. A chart study revealed that six patients with SCD born at Sainte-Justine UHC were not identified by neonatal screening.

CONCLUSIONS

The screening program was clinically effective because it identified 92.3% of at-risk patients born at Sainte-Justine UHC. These infants received appropriate medical care before 10 weeks of age as opposed to a median of 12 months for infants not identified by the screening program. It is proposed that either a targeted or a universal neonatal screening for SCD should be available in Canada.     

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis

Background

Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis.

Case Presentation

Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment.

Conclusion

Congenital adrenal hyperplasia as one of the causes of neonatal cholestasis should be kept in mind, whenever there are also electrolytes abnormalities.     

Incidence of Neonatal Hyperphenylalaninemia in Fars Province,South Iran

Objective

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH₄), deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Fars province, south of Iran.

Methods

In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine. The samples with a serum level of≥ 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography (HPLC) method.

Findings

Nine out of 76966 newborns had a serum phenylalanine level≥2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria (PKU) among the patients was 62.5% and 37.5% respectively and the incidence of BH₄ deficiency was 1/76966.

Conclusion

These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Fars province. The high incidence makes a comprehensive screening program for management of the disease necessary.     

Entrobacter,the Most Common Pathogen of Neonatal Septicemia in Rasht,Iran

Objective

Bacterial sepsis continues to be a major cause of morbidity and mortality in newborns. Bacterial pathogens of neonatal septicemia may vary from one country to another and within a country from one hospital or region to another. Both gram-negative and gram-positive bacteria are responsible in neonatal sepsis. This study was undertaken to determine the prevalent bacterial agents of neonatal sepsis and their antimicrobial susceptibility in a teaching hospital, Rasht, from February 2008 to February 2010.

Methods

This prospective study includes 611 newborns admitted with the probable diagnosis of septicemia. We studied the cases with positive blood culture, the pathogens and antibiotic resistance to different antibiotics.

Findings

Among 611 hospitalized newborns, 64 (10.6%) cases had positive blood culture. The commonest pathogens were Entrobacter (78.1%) and Klebsiella (6.2%).

Conclusion

According to the results, low birth weight and prematurity were associated with higher risk of sepsis significantly. The most common pathogen was Enterobacter. Treatment with effective antibiotics (e.g. gentamicin, cost effective and easily available) and hygienic care in the neonatal unit are recommended to eliminate the infectious factors especially Entrobacter.     

Inequality in School Readiness and Autism among 6-Year-Old Children across Iranian Provinces: National Health Assessment Survey Results

Objective

To assess the national inequality of school readiness and autism among 6-year-old Iranian children before school entry using a national health assessment survey.

Methods

In a cross-sectional nationwide survey, all Iranian children entering public and private elementary schools were asked to participate in a mandatory national screening program in Iran in 2009 in two levels of screening and diagnostic levels.

Findings

The study population consisted of 955388 children (48.5% girls and 76.1% urban residents). Of the whole children, 3.1% of the 6-year-old children had impaired vision. In addition, 1.2, 1.8, 1.4, 7.6, 0.08, 10, 10.9, 56.7, 0.7, 0.8 and 0.6 percent had color blindness, hearing impaired, speech disorder, school readiness, autism, height to age retardation, body mass index extremes, decayed teeth, disease with special needs, spinal disorders, and hypertension, respectively. The distribution of these disorders was unequally distributed across provinces.

Conclusion

Our results confirmed that there is an inequality in distribution of school readiness and autism in 6-year-old children across Iranian provinces. The observed burden of these distributions among young children needs a comprehensive national policy with evidence-based province programs to identify the reason for different inequality among provinces.     

Congenital Midline Cervical Cleft: Can It Be Treated in Newborn?

Background

Congenital midline cervical cleft (CMCC) is a rare developmental anomaly of the anterior neck, mostly found in Caucasian females. Most authors consider it within the spectrum of branchial arch developmental abnormalities. There have been about 100 reported cases in the literature. However, there is no agreement on the age of surgery in this anomaly.

Case Presentation

In this report we present our experience of managing this anomaly in the early neonatal period in two neonates. One of them had concomitantly congenital heart disease.

Conclusion

It is important to recognize this rare congenital anomaly in neonate. Although the exact time of surgery for CMCC is not mentioned, based on our results the earliest time of intervention is recommended since then the operating result will be excellent.     

Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran

Objective

Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common cystic fibrosis transmembrane conductance regulator (CFTR) mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran.

Methods

Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province (in Iran) were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method.

Findings

Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles.

Conclusion

These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.     

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Background:

This was a meta-analysis and systematic review to determine the global prevalence of the mitochondrially encoded 12S RNA (MT-RNR1) genetic mutation in order to assess the need for neonatal screening prior to aminoglycoside therapy.

Materials and Methods:

A comprehensive search of MEDLINE, EMBASE, Ovid, Database of Abstracts of Reviews of Effect, Cochrane Library, Clinical Evidence and Cochrane Central Register of Trials was performed including cross-referencing independently by 2 assessors. Selections were restricted to human studies in English. Meta-analysis was done with MetaXL 2013.

Results:

Forty-five papers out of 295 met the criteria. Pooled prevalence in the general population for MT-RNR1 gene mutations (A1555G, C1494T, A7445G) was 2% (1–4%) at 99%.

Conclusion:

Routine screening for MT-RNR1 mutations in the general population prior to treatment with aminoglycosides appear desirable but poorly supported by the weak level of evidence available in the literature. Routine screening in high-risk (Chinese and Spanish) populations appear justified.Key words: Aminoglycoside, mitochondrial genetics, mutation, ribosomal ribonucleic acid, sensorineural hearing loss     

Serum Interleukin 8 Level as a Diagnostic Marker in Late Neonatal Sepsis

Objective

Late-onset sepsis is responsible for high morbidity and mortality in newborn infants in the world and in particular in developing countries. In this study, we evaluated whether clinical characteristics, laboratory parameters and measurements of serum interleukin-8 (IL-8) are able to discriminate between late neonatal sepsis and normal baby.

Methods

This was a prospective (case-control) study conducted between March 2007 and April 2008, at the neonatal intensive care unit, Ghaem Hospital, Mashhad, Iran. The study comprised 93 neonates ≥72 hours of life. The infants were categorized in two groups based on the clinical presentation, and biochemical markers including complete blood count, C-reactive protein (CRP) and blood culture: 1) Control group including 42 infants with routine screening and 2) Case group consisting of 38 infants with definitive infection (positive blood and/or cerebrospinal fluid culture) or clinical sepsis (clinical and laboratory signs of infection without positive blood or CSF culture). Receiver-operating characteristic curves were used for the determination of thresholds for the infection group versus healthy neonate group.

Findings

Eighty infants were enrolled in this study. IL-8 and CRP decreased in order of definitive infection, clinical sepsis and healthy subjects respectively (P<0.001). Sensitivity, specificity, positive predictive value, negative predictive value for serum levels were 0.95, 0.1, 0.97, 0.1 for IL-8 and 0.83, 0.86, 0.83, 0.69 for CRP respectively (cut-off point for IL-8 >60pg/ml and for CRP>6mg/dl).

Conclusion

IL-8 may be a valid and early predictive marker of neonatal infection. Also, IL-8 is associated with severity of infection.     

Congenital myotonic dystrophy in a national registry

AIM:

To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy – a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted.

METHODS:

Genetically confirmed cases of CDM demonstrating symptoms in the first four weeks of life are described. Patients (or their caregivers) and physicians completed survey information at baseline and annually thereafter.

RESULTS:

Twenty-one patients were included (13 male and eight female), ranging from three to 24 years of age. The CTG trinucleotide repeat number ranged from 940 to 2100. Gastrointestinal, pneumonia and cardiac morbidities were most common. No deaths were noted.

CONCLUSIONS:

The United States Registry is a valuable resource for clinical research on patients with CDM; however, in contrast with the Canadian Paediatric Surveillance Program, some limitations are identified.     

Congenital cystic lesions of lung in the paediatric population: A 5-year single institutional study with review of literature

Background:

The aim was to evaluate the clinical presentation, investigation modalities, operative management, pathology, outcome (morbidity and mortality) and short term follow-up of congenital cystic lesions of the lung.

Materials and Methods:

This is a retrospective study. Study period was 5 years (December 2008-November 2013) in the Department of paediatric surgery, Nil Ratan Sircar Medical College. Study population: Total number = 10 patients. Age range: 2 days-7 years. (Neonate-4). Male and female ratio = 1:1.

Result:

Among 10 cases of lung cyst four having congenital lobar emphysema, four having congenital pulmonary airway malformation, one sequestration and one teratoma. All patients have undergone surgical excision in terms of lobectomy or excision of the lesion. Post-operative histopathology confirmed the diagnosis. Recovery was uneventful.

Conclusion:

Although our experience is limited, operative management of lung cysts seems to be safe with rewarding results. However we are yet to encounter many of the other varieties of the cysts found in the lung, which may be associated with other congenital anomalies and have an impact on prognosis.     

Oesophageal atresia: Diagnosis and prognosis in Dakar,Senegal

Background:

Oesophageal atresia is a neonatal emergency surgery whose prognosis has improved significantly in industrialised countries in recent decades. In sub-Saharan Africa, this malformation is still responsible for a high morbidity and mortality. The objective of this study was to analyse the diagnostic difficulties and its impact on the prognosis of this malformation in our work environment.

Patients and Methods:

We conducted a retrospective study over 4 years on 49 patients diagnosed with esophageal atresia in the 2 Paediatric Surgery Departments in Dakar.

Results:

The average age was 4 days (0-10 days), 50% of them had a severe pneumonopathy. The average time of surgical management was 27 h (6-96 h). In the series, we noted 10 preoperative deaths. The average age at surgery was 5.7 days with a range of 1-18 days. The surgery mortality rate is 28 patients (72%) including 4 late deaths.

Conclusion:

The causes of death were mainly sepsis, cardiac decompensation and anastomotic leaks.Key words: Esophageal atresia, Diagnosis, Prognosis, Sub-Saharan Africa     

Correlation between Hypoglycemia and Positive Rate of Inborn Error of Metabolism in Neonatal Intensive Care Unit

Objective

To investigate the correlation between hypoglycemia and positive rate of inborn error of metabolism (IEM) in neonatal intensive care unit.

Methods

160 patients from a neonatal intensive care unit were enrolled. Blood glucose was measured by Roche Modular chemistry. The dry blood on filter papers, collected from 160 patients, was tested by tandem mass spectrometry to detect 35 inborn errors of metabolism. Clinical follow-up of all the patients was at least in an interval of 12 months. The mean observation period was 13.5 months per child.

Findings

Based on the ROC curve, the optimal cut-off value of hypoglycemia as an indicator for screening for IEMs was projected to be 2.8 mmol/L, which yielded a sensitivity of 71.4% and a specificity of 76.5%. The patients were divided into two groups: hypoglycemia group (48 cases) and the control group (112 cases). 5(10.4%) of the 48 patients in the hypoglycemia group were positive, while only 2(1.8%) of the 112 patients in the control group were positive. The difference of the positive rate in the screening for IEMs between the two groups was significant (χ²=4.10, P<0.05); the relative risk (RR) was 5.83 (95% CI: 1.06–32.12).

Conclusion

The risk of patients with hypoglycemia suffering from IEMs was significantly higher than that of the non-hypoglycemia patients in NICU, based on cut-off value of 2.8mmol/L.