Application of a rapid assay to detect targeted numerical and structural anomalies in patient with congenital malformations

Bacterial artificial chromosomes [BACs]-on-Beads [BoBs] is one of the novel and rapid technologies that has been a part of recent advances in genomic technologies. BACs-on- Beads technology [Trade Mark] that assists in speedy detection of copy number changes [CNVs] in targeted genomic regions from minimal amount of DNA. We compared this molecular multiplex, bead-based suspension array that is used in prenatal invasive testing, with conventional cytogenetic and G-banded karyotype techniques. We present the initial BoBs analysis data of 4 patients referred to CABRI with congenital malformations. As per the manufacture's information the targeted region covers at least 4-5 bacs for each region. The selected loci represent the relatively common chromosomal syndromes associated with deletions that can be missed by karyotype analysis. The syndromes are known with definable phenotype and deletion as the major means giving rise to the syndrome. In addition to this the BAC's for the common aneuploidies of chromosomes 13, 18, 21, X, and Y are also present. The method not only detected the known trisomy 21 but also identified a deletion on the long arm of chromosome 7 at q11.2 region that represents the Williams - Beuran Syndrome [WBS] critical region in a patient with suspected trisomy 21. BoBs is potentially a very useful first row test for aneuploidy detection because of its lower cost and rapid detection with minimal amount of DNA especially in newborns with suspected congenital malformations. The results suggest that it is a reliable technique to detect common microdeletions that get missed out by conventional chromosomal analysis

Neonatal jaundice: Is it hereditary spherocytosis?

A full term baby developed indirect hyperbilirubinemia within first 12 hours of life. Hence, capsule phototherapy was started and investigations were done to find out the cause. There was a history of death of previous sibling apparently due to neonatal jaundice. Mother's blood group was A positive, baby's blood group was A negative and DCT was negative. Reticulocyte count was 34%. The baby had low hemoglobin and high MCHC. Hence, diagnosis of neonatal non-immune hemolytic jaundice was considered. Most likely causes were G-6 PD deficiency and hereditary spherocytosis. With capsule phototherapy indirect hyperbilirubinemia was under control with peak TSB level of 22.6 mg/dl on 3[rd] day of life, dropping to 8.5 mg/dl on 12[th] day of life. In addition, single volume exchange blood transfusion was carried out on 5[th] day. The baby remained clinically well throughout hospital stay and was taking breastfeeding well. The baby had bronze grayish color of skin, which could be due to component of direct hyperbilirubinemia present as a result of excessive hemolysis. G-6 PD quantitative test was normal. Peripheral smear done on 4th day showed moderate anisopoikilocytosis with spherocytosis and polychromasia with frequent presence of NRBCs. The percentage of spherocytes were 8% of red cells. In view of above clinical picture and laboratory findings, diagnosis of hereditary spherocytosis was considered. In hereditary spherocytosis, there is alteration of red cell membrane due to genetic defect causing deficiency of cell membrane protein and reducing their deformability1. It affects about 1 in 2000 in Europe and North America. Most cases are autosomal dominant and are mild to moderate in severity with small number of cases being autosomal recessive and having severe form of the disease. Our case probably belongs to autosomal recessive type in view of severe clinical symptoms, family history of sibling who died of severe jaundice in the neonatal period and history of consanguinity between the parents [they were cousins]

neonate with resistant and prolonged hypoglycemia

A case of resistant hypoglycemia in a newborn is presented and the evaluation and management of this rare condition is discussed. Baby was born premature at 34 weeks gestational age and was diagnosed with grade 3 respiratory distress syndrome. He was ventilated and received 2 doses of Survanta. Baby had hypoglycemic episodes from the first day as detected by glucometer and confirmed by laboratory test on venous blood. Baby needed glucose infusion rate up to 13 mg/kg/min by 5th day along with feeds to maintain sugar levels. Hypoglycemic episodes continued despite high glucose infusion rate, full feeds and hydrocortisone. Hence, he was diagnosed as a case of resistant and prolonged hypoglycemia and started on intravenous octreotide. Blood glucose was maintained on intravenous octreotide and glucose infusion rate could be decreased to 7 mg/kg/min. Baby's serum insulin level was very high [317 microU/ml] with corresponding blood glucose of 48 mg/dl. There is a family history of resistant hypoglycemia in one of his cousin sister and history of consanguinity between his parents. Genetic test was done which showed nonsense mutation of ABCC8 gene confirming diagnosis of autosomal recessive congenital hyperinsulinism. Plan is to do subtotal pancreactomy to decrease insulin level. Resistant and prolonged hypoglycemia in a neonate is defined as a hypoglycemia persisting despite glucose infusion rates of 12 mg/kg/min for more than 24 hours and hypoglycemia persisting beyond 7 days of life respectively. Our case had resistant and prolonged hypoglycemia secondary to hyperinsulinism. His blood sugars were under control with the help of hydrocortisone and octreotide in addition to glucose infusion and feeding. Genetic tests were carried out in view of family history of similar presentation in the cousin sister and history of consanguinity in his parents. It confirmed the diagnosis of autosomal recessive congenital hyperinsulinism and he carries same mutation as his affected cousin sister [homozygous mutation in ABCC8 gene]. He underwent subtotal pancreactomy one month back. He is now 5 months old and is on injection octreotide and gastrostomy feeds

Neonatal sepsis: Incidence, risk factors, common pathogens and antimicrobial pattern in a multiethnic population in Ajman, UAE

To determine the incidence, source of infection, impact of gestational age, pattern of delivery, birth weight, feeding pattern on the occurrence of neonatal sepsis and to assess the frequency of pathogens and their antibiotic susceptibility pattern. Medical record review based study was done during Jan-Dec 2011 at GMCH Ajman. Blood was collected aseptically before the administration of antibiotics from 255 sepsis suspected neonates for culture by BACTEC system. The microorganisms isolated were identified by Gram staining and biochemical test; these isolates were further subjected for antibiogram by Kirby-Bauer disc diffusion method. Analysis was performed on SPSS version 20. The neonates were from 28 nationalities, 82% were Asians. Male female ratio was 61: 59. The proportion of sepsis was 6.6%; of which male female ratio was 76:24. Of the 209 early onset sepsis [EOS] cases 8 were culture proven sepsis, and among the 46 late onset sepsis [LOS] cases 9 were culture positive. Of the culture proven cases, 65% were preterm and 35% were term neonates. Of which 53% were delivered by caesarian section and 47% by vaginal delivery. Thirty five percent were low birth weight, 47% were normal birth weight and 18% were overweight. Eighty eight percent were breast fed, 6% were breast fed along with infant formula and 6% were on IV fluids. Microorganisms isolated were Candida albicans, Staphylococcus species, Streptococcus species and Gram negative bacilli. Gram negative bacilli showed 100% susceptibility towards Amikacin, Augmentin and Ciprofloxacin. Gram positive cocci were 100% susceptible for Azithromycin, Ciprofloxacin and Chloramphenicol. The proportion of sepsis among the suspected neonates was 6.6% with male predominance. Mortality rate was 5.8% among the sepsis proven neonates. Multidrug resistance was not observed among the isolates. The response towards the prophylactic and therapeutic antibiotic regime was effective for the prognosis of sepsis

Effects of tobacco use and attitude towards anti-tobacco activities: a cross-sectional study among school students in Ajman, United Arab Emirates

Use of tobacco begins early in childhood and builds up to lifelong habit. The present study determined the knowledge of school students regarding the effects of tobacco and attitude towards anti-tobacco activities. This cross-sectional study was carried out at four schools [Grades IX to XII] in Ajman. A self-administered questionnaire was used focusing on the knowledge regarding tobacco use among adolescents, reasons for initiation, associated health risk, and social problems; previous participation and willingness to participate in anti-tobacco activities. Descriptive and inferential analysis was performed using SPSS 19. 229 male and 182 female students [mean age: 15.6+1.1 years] participated. Grade XII, XI, X, IX students constituted 31.4%, 29.4%, 29.7%, and 9.5% respectively. 328 [79.8%] were aware of the use of cigarettes, shisha, midwakh, chewing and sniffing tobacco among adolescents. About 75% indicated the possible reasons for initiation: to blend with friends, elevate mood, and to deal with family problems [Females more than males p<0.05]. More than 80% were aware of associated health risk and social problems [Females more than males p<0.05]. The social problems stated were problems with family, peer and teachers. As regards the level of health risk, 66.9%, 52.8%, 48.7%, felt that severe risk is associated with cigarette smoking, chewing tobacco, and smoking midwakh respectively. The source of their knowledge included television, internet and newspaper. About 66.2% had advised individuals to quit tobacco; 21.2% participated in anti-tobacco activities. Suggested measures to increase awareness were through media, seminars, workshops and student groups in schools. More than 75% were willing to participate in anti-tobacco activities, and 63.5% interested to give talks on the effects of tobacco. The students possessed positive attitude towards anti-tobacco activities and had knowledge of the health and social effects of tobacco. Active participation of adolescents in anti-tobacco activities can help to root out the problem of tobacco use among adolescents

Rare case of hemophagocytic lymphohistiocytosis: a case report

A two-month old infant was admitted to our hospital with history of fever and cough. He was active and playful with normal systemic examination. He was started on antibiotics because the C-reactive protein [CRP] was high. Over the next few days he deteriorated with persisting fever, altered sensorium and hepatomegaly. Inspite of using third line antibiotics, the CRP kept increasing and the child showed no signs of improvement. A possibility of Hemophagocytic Lymphohistiocytosis [HLH] was considered. Ferritin was high and so the child was referred to a tertiary centre for further treatment. Bone marrow biopsy confirmed the diagnosis of HLH. HLH is a clinical syndrome of hyper inflammation, and uncontrolled and ineffective immune response. It could be primary where genetic mutations have been demonstrated or secondary to infection, malignancy or metabolic condition. Criteria have been laid done for the diagnosis of HLH. This condition should be considered when there is continued deterioration in spite of maximal supportive care

rare case of tyrosinemia presenting with abdominal distension with shock

Tyrosinemia type I is the most severe disease of the tyrosine catabolic pathway resulting from deficiency in fumaryl acetoacetate hydrolase [FAH] leading to elevation of tyrosine in liver, kidney and peripheral nerves. It is characterized by hepatic failure, cirrhosis, renal dysfunction, hepatocarcinoma, and neurologic crisis. The estimated prevalence of type I tyrosinemia worldwide is <1 in 100,000. We present a rare case of tyrosinemia presenting with abdominal distension and shock. A two-month old male child of 2[nd] degree consanguineous marriage was born prematurely and was small for gestation [SGA baby]. She was noted to have neonatal hyperbilirubinemia in the immediate neonatal period. Weight gain remained poor in spite of adequate feeding and supplementation. Persistent abdominal distension was noted, and anti-flatulence drugs were administered for the same, with no improvement noted. X-ray showed gaseous distension of abdomen. Tests for hypothyroidism and Hirschisprung disease were normal. The baby had persistent vomiting; ultrasonography was normal. After one month she developed cold clammy extremities with thread pulse, poor urine output persistent vomiting with significantly distended abdomen. Investigations revealed E-coli positive UTI for which appropriate antibiotics were started. However, the condition of the baby deteriorated and baby developed metabolic acidosis which was initially attributed to resistant E-coli sepsis. On investigating further, an elevated level of alpha fetoprotein [AFP] was noted. The other reports revealed significant coagulopathy and the algorithmic work up revealed tyrosinemia. Tyrosinemia type 1 should be differentiated from other causes of hepatitis and hepatic failure in infants

Knowledge of effects of drinking alcohol and attitude towards anti-substance use campaign among school students in Ajman, UAE

Alcohol consumption is an important epidemiological problem affecting health and is on a rise among the adolescents. Knowledge about effects of alcohol consumption and attitude towards anti-substance use campaign among school students in Ajman, UAE was assessed. A population-based cross-sectional study was conducted among students in four schools in Ajman, grades IX-XII. A pre-tested, close-ended questionnaire relating to knowledge of health and social effects of alcohol and attitude towards anti-substanceuse campaign was administered to the students. Chi-square test was applied to determine association between variables using SPSS.19. 411 students between 15-17 years of age participated [Male students constituted 55.7%, mean age: 15.65 +/- 1.1 years], 375 [91.2%] students indicated alcohol consumption was harmful that. 288 [70.1%] were aware of the use alcohol among school students. Severe health-associated risk was attributed to drinking alcohol by 63%. About 334 [81.3%] responded that social problems were associated with alcohol consumption. Common social problems mentioned were problems with parents, friends, and teachers, and the other effects included poor academic performance. Female students were more aware of the reasons for initiation and health and social problems than the males [p<0.05]. Television, internet and newspaper constituted the most common source of their knowledge. About 66% had advised individuals to quit the habit; about 21.2% students had participated in anti-substance use campaigns. Media. Seminars and workshops in schools were the possible ways suggested for increasing awareness. 81% were willing to organize and participate in anti-substance use campaign in their school. High proportions of students were aware of the harmful effects of alcohol and had positive attitude towards anti-substance use campaigns that are necessary to reduce unhealthy behaviors among adolescents

Effects of tobacco use and attitude towards anti-tobacco activities: a cross-sectional study among school students in Ajman, UAE

Objectives: Use of tobacco begins early in childhood and builds up to lifelong habit. The present study determined the knowledge of school students regarding the effects of tobacco and attitude towards anti-tobacco activities

Materials and Methods: This cross-sectional study was carried out at four schools [Grades IX to XII] in Ajman. A self-administered questionnaire was used focusing on the knowledge regarding tobacco use among adolescents, reasons for initiation, associated health risk, and social problems; previous participation and willingness to participate in anti-tobacco activities. Descriptive and inferential analysis was performed using SPSS 19

Results: 229 male and 182 female students [mean age: 15.6+1.1 years] participated. Grade XII, XI, X, IX students constituted 31.4%, 29.4%, 29.7%, and 9.5% respectively. 328 [79.8%] were aware of the use of cigarettes, shisha, midwakh, chewing and sniffing tobacco among adolescents. About 75% indicated the possible reasons for initiation: to blend with friends, elevate mood, and to deal with family problems [Females more than males p<0.05]. More than 80% were aware of associated health risk and social problems [Females more than males p<0.05]. The social problems stated were problems with family, peer and teachers. As regards the level of health risk, 66.9%, 52.8%, 48.7%, felt that severe risk is associated with cigarette smoking, chewing tobacco, and smoking midwakh respectively. The source of their knowledge included television, internet and newspaper

About 66.2% had advised individuals to quit tobacco; 21.2% participated in anti-tobacco activities. Suggested measures to increase awareness were through media, seminars, workshops and student groups in schools. More than 75% were willing to participate in anti-tobacco activities, and 63.5% interested to give talks on the effects of tobacco

Conclusion: The students possessed positive attitude towards anti-tobacco activities and had knowledge of the health and social effects of tobacco. Active participation of adolescents in anti-tobacco activities can help to root out the problem of tobacco use among adolescents

Rare case of hemophagocytic lymphohistiocytosis: a case report

A two-month old infant was admitted to our hospital with history of fever and cough. He was active and playful with normal systemic examination. He was started on antibiotics because the C-reactive protein [CRP] was high. Over the next few days he deteriorated with persisting fever, altered sensorium and hepatomegaly. Inspite of using third line antibiotics, the CRP kept increasing and the child showed no signs of improvement. A possibility of Hemophagocytic Lymphohistiocytosis [HLH] was considered. Ferritin was high and so the child was referred to a tertiary centre for further treatment. Bone marrow biopsy confirmed the diagnosis of HLH. HLH is a clinical syndrome of hyper inflammation, and uncontrolled and ineffective immune response. It could be primary where genetic mutations have been demonstrated or secondary to infection, malignancy or metabolic condition. Criteria have been laid done for the diagnosis of HLH. This condition should be considered when there is continued deterioration in spite of maximal supportive care

Progeroid syndrome of De Barsy with hypocalcemic seizures: a case report and review of literature

De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation syndrome, now commonly referred as 'progerioid syndrome of de Barsy'. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, cornea clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among those of Afghani origin and this also is the first case reported from United Arab Emirates. There have been no reported cases of hypocalcemic seizures

Autoamputation of congenital hairy polyp in neonate with stridor and respiratory failure

Hairy polyp of the oronasopharynx is an uncommon developmental malformation that is most frequently seen as a pedunculated tumor in the neonate. Derived from the ectoderm and mesoderm, this benign tumor generally has been classified as dermoid. We describe a neonate with a hairy polyp originating from the right lateral pharyngeal wall causing significant respiratory distress with cyanosis and stridor immediately after birth. Symptoms in the neonate disappeared following autoamputation of the mass. To our knowledge, this is the third case described in literature, with full following autoamputation of a hairy polyp

Aortopulmonary septal defect with coarctation of arota in a neonate with unilateral renal agenesis: a case report

Aortopulmonary septal defect [or window] is an uncommon congenital cardiac defect characterized by a deficiency in the septum between the aorta and the pulmonary artery. It is a rare cardiac defect comprising about 0.1-0.3% of congenital heart diseases in children. In about one half of affected patients, it presents as an isolated defect and in the other half, presents as a more complex heart disease in conjuction with another associated cardiac defect. A patent ductus arteriosus is seen in almost three fourths of patients and an interrupted aortic arch or severe coarctation is present in 10-15%. There have been few reports of aortopulmonary window presenting in patients affected by other syndromes, such as VACTERL association. If left untreated, it results in irreversible pulmonary vascular changes and early mortality. The prognosis for isolated aortopulmonary septal defect, with early surgical intervention, is good. In the presence of associated cardiac disease, the prognosis will depend on the nature and severity of the other lesions. An aortopulmonary window does not spontaneously close, and surgical repair is mandatory to prevent the development of pulmonary vascular obstructive disease. Most centers use techniques that involve cardiopulmonary bypass. Aortopulmonary septal defect is a rare defect, and its occurrence in association with extracardiac malformations [such as in VACTERL association] is even rarer. Here we report a case of aortopulmonary septal defect associated with unilateral renal agenesis. A five day old Indian male neonate with unilateral renal agenesis presented in the ER with cardiogenic shock. He was brought by his parents with complaints of poor feeding. A two-dimensional echocardiography revealed an aortopulmonary septal defect with coarctation of the aorta