Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nestedseries of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

A systematic review of trends and patterns of congenital heart disease in children in Nigeria from 1964-2015.

Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in children in Nigeria and examine trends in the occurrence of individual defects across 5 decades. Method: We searched PubMed database, Google scholar, TRIP database, World Health Organisation libraries and reference lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and 2015. Two researchers reviewed the papers independently and extracted the data. Seventeen studies were selected that included 2,953 children with congenital heart disease. Results: The commonest congenital heart diseases in Nigeria are ventricular septal defect (40.6%), patent ductus arteriosus (18.4%), atrial septal defect (11.3%) and tetralogy of Fallot (11.8%). There has been a 6% increase in the burden of VSD in every decade for the 5 decades studied and a decline in the occurrence of pulmonary stenosis. Studies conducted in Northern Nigeria demonstrated higher proportions of atrial septal defects than patent ductus arteriosus. Conclusions: Ventricular septal defects are the commonest congenital heart diseases in Nigeria with a rising burden.

Factors contributing to defaulting scheduled therapy sessions by caregivers of children with congenital disabilities

Background Defaulting scheduled rehabilitation therapy may result in increased adverse outcomes such as permanent disability and increased healthcare costs. Concomitantly, there is evidence to suggest that early and continued rehabilitation of children with congenital disabilities can improve outcomes significantly. This study was conducted to determine factors contributing to caregivers’ defaulting scheduled rehabilitation therapy sessions. Methods A descriptive cross sectional study was carried out at Chitungwiza Central Hospital, a tertiary facility offering in and outpatient rehabilitation services in Zimbabwe. Caregivers of children who had congenital disabilities (N=40) and who had a history of defaulting treatment but were available during the data collection period responded to an interviewer administered questionnaire. Data were analysed for means and frequencies using STATA 13. Results Factors that contributed to caregivers defaulting scheduled therapy included economic constraints (52%), child related factors (43%), caregiver related factors (42%), service centred factors (30%) and psychosocial factors (58%). Majority of the caregivers (98%) were motivated to attend therapy by observable improvements in their children. Other motivators were incentives given in the rehabilitation department (45%), availability of rehabilitation personnel to provide the required services (48%) and psychosocial support from fellow caregivers, families and the rehabilitation staff (68%). Although all the caregivers could not distinguish occupational therapy from physiotherapy services they all reported that therapy was important. Conclusions A combination of psychosocial, economic, child centred and service centred factors contributed to caregivers defaulting scheduled therapy. Interventions that may potentially improve caregiver attendance to scheduled therapy include community outreach services, efficient rehabilitation service provision at the hospitals, and facilitation of income generating programmes for caregivers.

Serum Hsp70 Antigen: Early Diagnosis Marker in Perinatal Asphyxia

Background: Perinatal asphyxia is an important cause of mortality and permanent neurological and developmental deficit. Early and accurate diagnosis would help to establish the likely prognosis and may also help in determining the most appropriate treatment. Studies in experimental animal models suggest that a protein called Hsp70 may be a good and potentially useful marker of cellular stress that may be clinically useful in determining the presence of neonatal asphyxia. Objectives: Regarding the importance of early and accurate diagnosis of asphyxia, we conducted this study, which is the first investigation of the comparison of the serum Hsp70 antigen level between asphyxiated and healthy infants. Patients and Methods: In this observational study, the serum concentrations of Hsp70 antigen were compared between neonates suffering from perinatal asphyxia (n = 50) and normal neonates (n = 51). The inclusion criteria for the cases were neonates who had reached term and had at least two clinical criteria of asphyxia. Exclusion criteria were babies with gestational age < 37 weeks, infants with congenital abnormalities or positive blood culture. Exclusion criteria in this group were the requirement to hospital stay during first week of the life or babies whose mothers had difficulties during pregnancy or delivery. Term neonates without major anomalies who had asphyxia during delivery were enrolled in the first six hours after delivery, and control group consisted of healthy term neonates without problems and normal delivery process in the first week of life. The cord blood was taken during labor to measure Hsp70 antigen level by using an in-house ELISA (The enzyme-linked immunosorbent assay). Results: The median values of serum anti Hsp70 titers were significantly higher in asphyxiated neonates compared with non-asphyxiated neonates (0.36 [0.04 - 1.14] vs 0.24 [0.01 - 0.63]). At cutoff point = 0.3125 ng/mL, sensitivity was 58% and specificity 76% based on ROC curve. Conclusions: A significant difference between the serum concentrations of Hsp70 of the control and patient group was observed in this study. It is inferred serum concentrations of Hsp70 antigen may be a useful marker for the early diagnosis of that prenatal hypoxia.

Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly

Introduction: Congenital mirror movement disorder designates involuntary movements on one side of the body that occur as mirror of the intentional movements on the contralateral side. Colpocephaly is described as persistence of fetal configuration of lateral ventricles. Case Presentation: A two-month old male infant was brought to the hospital due to bilateral identical movements of the hands. Except for bilateral involuntary synkinetic imitative movements in hands, neurological and physical examination was normal. Cranial MRI showed corpus callosum dysgenesis, hypogenesis and dilation of bilateral lateral ventricular posterior horns (colpocephaly). At the age of 7 years, he was started to use metylphenydate to mitigate attention deficit and hyperactivity disorder. The mirror movements were decreasing in amplitude by years and were not so serious to affect normal life activities. Conclusions: Mirror movements, diagnosed usually during childhood, may be congenital or secondary to neurological diseases. Although they generally do not affect normal life activities, in some cases severity of mirror movements causes a real debilitating disease. In our case the patient was diagnosed at the age of 2 months and on follow-up no debilitating problems were observed. This is the first case to describe the association of colpocephaly and mirror movements. The exact mechanism of this association is not known. Although it is known that mirror movements may be in relation with some pychiatric pathologies, this is the first report of attention deficit and hyperactivity disorder in conjunction with mirror movements and/or colpocephaly. Managing comorbidities, either physical or psyhchological, will help the patient to live in good health without trying to cope with other pathological diseases.

Evaluation of Onlay Island Flap Technique in Shallow Urethral Plate Hypospadiasis

Background: Hypospadias is one of the most common congenital genital anomalies in males that necessitates to be operated early in infancy (when 6 to 9 months old). On the other hand, hypospadias is a challenging field of pediatric urology with multiple reconstruction techniques. A perfect hypospadias repair is supposed to return urethral continuity with sufficient caliber, eradicate phallus curvature, and supply an acceptable appearance with low complications. Objectives: This study aimed to evaluate the outcomes of using onlay island flap technique in the repair of hypospadias with shallow urethral plate. Patients and Methods: In this prospective study within June 2012 to December 2013, we performed onlay island flap procedure to repair hypospadias with shallow urethral plate measuring less than 6 millimeter. This technique was selected for all types of hypospadiasis except subcoronal type. Nesbit’s dorsal plication procedure was established for chordee. In cases with very small glans, urethroplasty was performed without glansplasty. Results: Twenty three patients with mean age of 30 (range 10 - 60) months underwent onlay island flap repair; all had a shallow urethral plate < 6 mm, 3 had a very small glans, and 18 had chordee. Meatus was located in distal shaft in 5 cases, mid shaft in 8, proximal in 6 and penoscrotal type in 4 patients. Chordee was corrected with Nesbit’s dorsal plication in 16 cases. Complications were: meatal stenosis in 2 cases and urethrocutaneous fistula in 2 patients, all of which were repaired surgically. Mean follow up time was 13 (3 - 20) months. All cases that had glansplasty have excellent esthetic appearance. Conclusions: This technique offers acceptable results regarding meatal stenosis, urethrocutaneous fistula and esthetic outcome.

Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease

Background: The rate of congenital heart disease is 0.8% in all live births. The majority of this, however, is acyanotic congenital heart disease. The survival rate of children with cardiac disease has increased with the developments provided in recent years and their lifetime is extended. Objectives: This study aims to evaluate neurodevelopment of children with uncomplicated acyanotic congenital heart disease in preschool period and determine the factors affecting their neurodevelopmental process. Patients and Methods: 132 children with acyanotic congenital heart disease aged 6 - 72 months were involved in the study. Mental development and intelligence levels of patients under 2 years old were assessed by using Bayley Development Scale-III, and Stanford Binet Intelligence test was employed for patients over 2 years old. Denver Developmental Screening Test II was applied to all patients for their personal-social, fine motor, gross motor and language development. Results: The average age of patients (67 girls, 65 boys) included in the study was 35.2 ± 19.6 months. It was determined that there were subnormal mental level in 13 (10%) patients and at least one specific developmental disorder in 33 (25%) patients. Bayley Mental Development Scale score of patients who had received incubator care in perinatal period was found significantly low (88 ± 4.2) compared to those with no incubator care (93.17 ± 8.5) (P = 0.028). Low educational level of father was established to be linked with low mental development scores at the age of 2 and following that age (P < 0.05). Iron deficiency anemia was discovered to be related to low psychometric test scores at every age (P < 0.05). Conclusions: Neurodevelopmental problems in children with acyanotic congenital heart disease were found higher compared to those in society. Mental development and intelligence levels of patients were determined to be closely associated with receiving incubator care, father’s educational level and iron deficiency anemia.