A Prospective comparative Study of Vermilion repair by Modified Vadvancement Vermilion Flap in Unilateral Cleft Lip Patients

Background Oro-facial clefts include a range of congenital deformities most commonly presenting as cleft lip with or without cleft palate (CLP) or isolated cleft palate (CP). CLP is the second most common congenital birth defect in the U.S. Aim of the Work to assess modified v-advancement vermilion flap combined with Tennison technique for vermilion repair in unilateral cleft lip regarding aesthetic outcome in comparison with repair of cleft lip by Tennison technique. Patients and methods This study was conducted in plastic, maxillofacial and reconstructive surgery department in Ain Shams University between September 2019 to February 2020. It included 20 patients divided into two group; the first group consisted of 10 patients who underwent repair of cleft lip by Tennison technique and the second group consisted of 10 patients who underwent repair by Tennison technique combined with v- advancement vermilion flap. Both groups were assessed postoperatively by Asher-McDade et. al. scoring system. Result The study showed statistically significant difference between the two groups as regard the white lip length which was more symmetrical in cases repaired by Tennison technique combined with modified v-advancement vermillion flap (P = 0.01). The bulge and the deficiency in the lateral vermilion were decreased in the group treated by Tennison technique with modified v-advancement vermilion flap. However the difference was statistically insignificant (P = 0.66). Conclusion The choice of a technique for surgical correction of UCL should be based on an evidence that this technique has the best functional and aesthetic outcomes. The findings of this study support the view that these two methods of cleft lip repair have their own advantages and disadvantages. Tennison technique combined with vadvancement vermilion flap achieved less bulge in the vermilion with no statistically significant difference.

MANAGEMENT OF A DELAYED PRESENTATION OF CONGENITAL KNEE DISLOCATION IN A 14 MONTH OLD CHILD WITH LARSENS SYNDROME AND PIERRE ROBIN SEQUENCE

Larsens syndrome is a rare genetic disorder characterized by multiple joint dislocations, abnormal facial features, and ligamentous laxity.Dislocation can involve Hips, knees, elbows, and other joints. it was first described by Larsen et al in 1950 [1]. Pierre Robin sequence is another rare congenital birth defect That is characterized by microganthia, glossoptosis and cleft palate which can lead to variety of functional abnormalities including feeding , breathing and hearing [2,3]. Here is a case report of a14-month-old child with Larsens syndrome who presented late with multiple joints dislocation including (elbow, hips, knees, and ankle), and failed management of knee dislocation.

Detection of Novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele

Aim: To detect the novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele. Methodology: The study design was cross sectional. It comprises of sixty individuals, of them fifty were diagnosed cases of myelomeningocele and ten were healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center. The study was carried out in Dow Diagnostic and Research Laboratory (D.D.R.L.). Most of the patients were less than one year of age. The cases were evaluated for various other parameters like site and size of cyst and associated features like presence of hydrocephalus in the individuals. Since folic acid deficiency is the key component in the causation of the disease so mothers were also asked about the consumption of folic acid. Blood was drawn from patients after a written permission from the parents of the concerned patient. It was followed by the conduction of PCR to seek for any mutation in VANGL1 gene. Results: We found a rare mutation in VANGL1 gene revealing substitution of valine to serine at position 239 i.e. V239S. Hydrocephalus being the associated anomaly was present in 32% of the patients. Most of the affected individuals were males. 98% mothers of the sufferers did not take folic acid during pregnancy. In most of the patients, lump was present on the lumbar region. Conclusion: Myelomeningocele is a congenital birth defect with lifelong complications. Its prevalence can be decreased by taking certain measures. Periconceptional intake of folic acid has been established to lessen the risk of the disease. We identified a rare mutation in VANGL1 gene that may result in the causation of myelomeningocele. Keywords: Neural tube defects, mutation, myelomeningocele.

Excessive All-Trans Retinoic Acid Inhibits Cell Proliferation Through Upregulated MicroRNA-4680-3p in Cultured Human Palate Cells

Cleft palate is the second most common congenital birth defect, and both environmental and genetic factors are involved in the etiology of the disease. However, it remains largely unknown how environmental factors affect palate development. Our previous studies show that several microRNAs (miRs) suppress the expression of genes involved in cleft palate. Here we show that miR-4680-3p plays a crucial role in cleft palate pathogenesis. We found that all-trans retinoic acid (atRA) specifically induces miR-4680-3p in cultured human embryonic palatal mesenchymal (HEPM) cells. Overexpression of miR-4680-3p inhibited cell proliferation in a dose-dependent manner through the suppression of expression of ERBB2 and JADE1, which are known cleft palate-related genes. Importantly, a miR-4680-3p-specific inhibitor normalized cell proliferation and altered expression of ERBB2 and JADE1 in cells treated with atRA. Taken together, our results suggest that upregulation of miR-4680-3p induced by atRA may cause cleft palate through suppression of ERBB2 and JADE1. Thus, miRs may be potential targets for the prevention and diagnosis of cleft palate.

Incidence of Cleft Lip and Cleft Palate - An Institutional Based Retrospective Study

Cleft lip or the palate is the congenital birth defect with which is characterised by complete or partial cleft lip or palate. The congenital cleft involving the facial structures may vary from trace of notching of the lip to a complete non fusion of lip and the palate. This study was done to determine the incidence of cleft lip and palate. It is a single centered retrospective study. Data was collected from the patient record system used in a private dental institution and following parameters such as gender, type of cleft lip and palate, unilateral or bilateral was recorded. 86000 patient details were analysed between June 2019 to March 2020 out of which 74 patients who fulfilled the inclusion and exclusion criteria were included in the study. The data was statistically analysed using SPSS software. In this study, it was observed that cleft lip was most commonly seen in males and cleft palate in females. Unilateral cleft lip is common in both males and females. Incomplete cleft palate is more common followed by complete cleft palate. Orofacial defects are most commonly seen at the time of birth.

Spina Bifida Myelomeningocele: The Brain and Neuropsychological Outcomes

This paper reviews the physical, neural, and cognitive phenotypes of spina bifida myelomeningocele (SBM), a non-lethal neural tube defect that is the most common congenital birth defect affecting the central nervous system. After reviewing the physical and neural phenotypes, we explain how these variations affect in a principled manner variation in the cognitive phenotype of SBM. The cognitive phenotype represents a modal profile with strengths in associative, rule-based learning and weaknesses in assembled, integrative processes. This phenotype is related to core deficits in timing, attention, and movement that arise early in development because of brain malformations involving the cerebellum, midbrain, and corpus callosum. The variability of outcomes in SBM is also related to the level of spinal cord lesion, secondary effects of hydrocephalus and its treatment, and the psychosocial environment. Early interventions and comprehensive interventions that take advantage of our understanding of the modal cognitive phenotype modal profile and the variations that occur are important in helping people with SBM maximize their cognitive development, adaptive functions, and quality of life.

Development and Characterization of Double-Antibody Sandwich ELISA for Detection of Zika Virus Infection

Zika virus (ZIKV) is an emerging mosquito-transmitted flavivirus that can cause severe disease, including congenital birth defect and Guillain−Barré syndrome during pregnancy. Although, several molecular diagnostic methods have been developed to detect the ZIKV, these methods pose challenges as they cannot detect early viral infection. Furthermore, these methods require the extraction of RNA, which is easy to contaminate. Nonstructural protein 1 (NS1) is an important biomarker for early diagnosis of the virus, and the detection methods associated with the NS1 protein have recently been reported. The aim of this study was to develop a rapid and sensitive detection method for the detection of the ZIKV based on the NS1 protein. The sensitivity of this method is 120 ng mL−1 and it detected the ZIKV in the supernatant and lysates of Vero and BHK cells, as well as the sera of tree shrews infected with the ZIKV. Without the isolation of the virus and the extraction of the RNA, our method can be used as a primary screening test as opposed to other diagnosis methods that detect the ZIKV.

Implementation of Updated Hearing Screen Guidelines in a Level IV NICU—A Quality Improvement Project

Hearing loss is the most common congenital birth defect. In 2007, American Academy of Pediatrics updated the hearing screen guidelines to recommend hearing screen by 1 month of age, diagnostic evaluation by 3 months, and early interventions by 6 months. Early interventions have been shown to improve developmental outcome in children with hearing loss. Infants admitted to the neonatal intensive care unit (NICU) are at higher risk for hearing loss. For infants born before 34 weeks' gestation, there are no guidelines for initial hearing screen. Although auditory brain stem response can be reliably performed at 32 to 34 weeks, in most NICUs, they are screened prior to discharge per universal hearing screen guidelines. In high-risk infants, often with prolonged hospitalization, this leads to missed opportunity for early detection and implementation of early intervention services. Using quality improvement methodology, an updated hearing screen algorithm was developed and implemented in our level IV NICU along with an electronic medical record tool to improve the process of identifying infants meeting criteria for hearing screen.

Sonic Hedgehog is a member of the Hh/DD-peptidase family that spans the eukaryotic and bacterial domains of life

Sonic Hedgehog (Shh) coordinates Zn2+ in a manner that resembles that of peptidases. The ability of Shh to undergo autoproteolytic processing is impaired in mutants that affect the Zn2+ coordination, while mutating residues essential for catalytic activity results in more stable forms of Shh. The residues involved in Zn2+ coordination in Shh are found mutated in some individuals with the congenital birth defect holoprosencephaly, demonstrating their importance in development. Highly conserved Shh domains are found a parts of some bacterial proteins that are members of the larger family of DD-peptidases, supporting the notion that Shh acts as a peptidase. Whereas this Hh/DD-peptidase motif is present in Hedgehog (Hh) proteins of nearly all animals, it is not present in Drosophila Hh, indicating that Hh signaling in fruit flies is derived, and perhaps not a good model for vertebrate Shh signaling. Sequence analysis of Hh proteins and their possible evolutionary precursors suggest that the evolution of modern Hh might have involved horizontal transfer of a bacterial gene coding of a Hh/DD-peptidase into a Cnidarian ancestor, recombining to give rise to modern Hh.

Anaesthesia for Cleft Lip and Palate Surgery: Study from a Hospital of Eastern Nepal

IntroductionCleft lip and palate deformity is the most common congenital birth defect caused by complex genetic and environmental factors. Pre-operative management of these patients is always challenging and anesthesia has a great role for the surgery.ObjectiveThe aim of this study is to evaluate the outcomes including pre-operative election of cases, intra-operative and post-operative complications in pediatric patients.MethodologyThis is retrospective study conducted on cleft lip and palate repair patients between the ages of 3 months to 12 years, operated under general anesthesia during last six years at Morang Co-operative Hospital, Biratnagar, Nepal. Total 570 patients were assessed with preoperative, intra-operative and post-operative parameters, complications and managements. The MS Excel office and SPSS software was used to analyze the data.ResultsAmong 570 patients about one third came from the high mountain and hilly region and the rest from the Tarai. The maximum travel _me to reach the hospital was 2 days. The percentage of cancellation was 22.13% and was mainly due to the respiratory problems. Among 570 patients 352(61.75%) were males. While classifying the cases, 202 cases were presented with only cleft lip, 325 cleft lip and palate combined and 43 patients with isolated cleft palate. Narcotics were not used for analgesia and analgesia maintained with other measures. There was no intra and post-operative death and none of the patient received intra-operative blood transfusion.ConclusionCleft lip and palate surgery in pediatric patients is possible in any hospitals when trained man power and proper operating and post-operative setup is available. Anesthesia for cleft lip and palate is challenging associated with several complications requiring continuous and vigilant anesthetic supervision and management for the better outcome.Birat Journal of Health Sciences Vol.2/No.1/Issue 2/ Jan - April 2017, Page: 127-133