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INTRODUCTION: In the present study we describe atypical cases with bright and enlarged fetal kidneys identified on fetal ultrasound with different genetic etiologies. METHODS: Exome sequencing was undertaken after prenatal counseling and after the initial diagnosis of enlarged fetal kidneys was made on ultrasound for four cases and the results were then correlated. RESULTS: In the present study we identified underlying variants in ACE, ETFA, PKD1, and MKS1 gene where the atypical presentation of fetal kidneys was noted either as a part of spectrum of syndrome or alone. CONCLUSIONS: In the era of exome sequencing, targeted gene sequencing is getting replaced and for better. However not all answers are direct, and sometimes the variant categorization is dependent on the acumen and agreement of all those involved in the process. It includes those involved the diagnostic as well those catering to the patients. It is very important to be updated on the relevance of multiple gene in causing similar phenotypes particularly in the prenatal context were coming up with a timely diagnosis is very important for any sort of intervention.
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Background: Autopsy has been a gold standard in cases of antenatal detected anomalies or fetal demise. This helped clinicians in getting insights into the future management. In current times, ultrasound and genomic testing has become extremely powerful in further refining the etiological basis; however, fetal autopsy still has its role even now. Material and Methods: We have discussed the utility of fetal autopsy in current times by diving the cases in seven groups. Results: Case based discussions to discuss the utility of fetal autopsy. Conclusions: We suggest that fetal autopsy should be the standard of care in case of any abnormal fetal outcomes alongwith fetal genomic testing. Fetal autopsy is complementary to the ultrasound assessment and genomic investigations in reaching the final diagnosis and provides invaluable information regarding recurrence risk which may not be available when couple plans next pregnancy.
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Mutations in PACS1 cause moderate-to-severe intellectual disability. Very few cases of PACS1 neurodevelopment disorder have been described in the literature that were identified using whole exome sequencing (WES). We report a case of de novo PACS1 mutation identified through WES after an initial workup for mucopolysaccharidosis. Through this case, we wish to emphasize that most important clinical clue in the facial gestalt is a downturned angle of mouth, thin lips, and wide mouth, giving characteristic wavy appearance of face that can distinguish these cases and can prevent unnecessary workup for the patients.
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Background and objective: Malocclusion is a manifestation of normal biological variability, defined as a misalignment of the teeth or an incorrect occlusion between the upper and lower dental arches. This study aimed to evaluate the mandibular intercanine primary, mixed, and permanent dentition in school children of Shimla, Himachal Pradesh. Materials and methods: This cross-sectional study was conducted on 1,392 children between the ages of 4 and 18 years from schools that fulfilled the inclusion criteria. The dental casts were poured and further divided based on the dentition stage, i.e., primary, mixed, and permanent dentition stages. Mandibular arch widths-interincisor and intercanine were measured on the casts by a digital vernier caliper. Results: The statistically significant difference was found as the interincisor width increased from primary to mixed dentition and between males and females for permanent dentition. Intercanine width significantly increases from primary to mixed dentition and gradually from mixed to permanent dentition stages. Conclusion: The present study found that there is a significant increase in interincisor and intercanine width in the lower dental arch from primary dentition to permanent dentition. How to cite this article: Singhal P, Jaswal O, Thakur S. Mandibular Interincisor and Intercanine Width at Three Different Stages of Dentition: A Cross-sectional Study. Int J Clin Pediatr Dent 2024;17(4):417-424.
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Introduction: The preferred treatment for primary teeth that are necrotic has been pulpectomy. Despite being the gold standard for years, using hand files can be difficult because of the longer chairside periods. Technology advancements have made it possible to reduce the need for manual dexterity and enhance pulpectomy care. Pediatric rotary files are now available specifically for use with primary teeth. This study's goal was to assess and contrast the instrumentation time and obturation quality of manual H files and pediatric rotary file systems (Prime Pedo™ and DXL-Pro™ rotary file systems) in primary mandibular molars. Materials and methods: A total of 51 deciduous mandibular molars that were evenly distributed for instrumentation were subjected to pulpectomy. Group I included the Prime Pedo™ rotary file system, group II included the DXL-Pro™ rotary file system, and group III included manual H files. A stopwatch was used to record the instrumentation time, and a postoperative radiograph was used to record the obturation quality. Results: When comparing pediatric rotary file systems to manual H files, there was a statistically significant reduction in instrumentation time (p = 0.000). When comparing the pediatric rotary file systems to the manual H files, there was no discernible difference in the obturation quality (p = 0.534). Conclusion: In all three file groups, the quality of obturation produced results that were comparable. On the other hand, a significant difference was observed in the instrumentation time between rotary and manual instrumentation for deciduous teeth. How to cite this article: Thakur S, Dhanasekaran M, Singhal P. Comparative Evaluation of Clinical Instrumentation Time and Quality of Obturation of Two Different Pedo Rotary File Systems in Primary Mandibular Molars: An In Vivo Study. Int J Clin Pediatr Dent 2024;17(3):303-306.
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Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.
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By definition, supplemental teeth are supernumerary teeth (ST) resembling adjacent teeth at the end of a tooth series and are well aligned in the arch. A case of the non-syndrome, supplemental type of supernumerary lateral incisor is presented, along with an unusual habit that was noted accidentally in the same child. In the present case, of the two lateral incisors, the mesial supplemental lateral incisor was causing an impaction of 11. In addition, the patient was aesthetically concerned. So, the decision was made to extract the supplemental tooth with altered morphology (mesial one) under local anesthesia even though, as per definition, the distal one is the supplementary tooth. And finally, to align the incisors by orthodontic treatment. Aim: A case of the non-syndrome, supplemental type of supernumerary lateral incisor is presented, along with an unusual habit of that was noted accidentally in the same child. Background: By definition, supplemental teeth are supernumerary teeth (ST) resembling adjacent teeth at the end of a tooth series and are well aligned in the arch. Case description: In the present case, of the two lateral incisors, the mesial supplemental lateral incisor was causing impaction of 11. In addition, the patient was aesthetically concerned. Conclusion: Decision was made to extract the supplemental tooth with altered morphology (mesial one) under local anesthesia even though, as per definition, the distal one is the supplementary tooth. And finally, to align the incisors by orthodontic treatment. Clinical significance: Decision-making regarding removal of tooth is quite baffling as a selective removal of the normal or the supplementary tooth may be required and it should be made after analyzing multiple factors. How to cite this article: Sojan M, Thakur S. An Unusual Case of Mesial Supplementary Lateral Incisor; A Case Report. Int J Clin Pediatr Dent 2023;16(3):518-521.
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Herein, control transfer hydrogenation (TH) of azoarenes to hydrazo compounds is established employing easy-to-synthesize reusable cobalt catalyst using lower amounts of N2H4·H2O under mild conditions. With this effective methodology, a library of symmetrical and unsymmetrical azoarene derivatives was successfully converted to their corresponding hydrazo derivatives. Further, this protocol was extended to the TH of nitroarenes to amines with good-to-excellent yields. Several kinetic studies along with Hammett studies were carried out to understand the plausible mechanism and the electronic effects in this transformation. This inexpensive catalyst can be recycled up to five times without considerable loss of catalytic activity.
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PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. RESULTS: 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. CONCLUSION: Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.
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Heart Defects, Congenital , Limb Deformities, Congenital , Tracheoesophageal Fistula , Female , Humans , Pregnancy , Fetus/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/genetics , Kidney/abnormalities , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/genetics , Trachea/abnormalities , Tracheoesophageal Fistula/diagnostic imaging , Tracheoesophageal Fistula/genetics , Prenatal DiagnosisABSTRACT
Background and objectives: Ideally every child must have access to preventive and restorative care of greater quality. However, in rural areas, resources and dental care services are limited. Silver diamine fluoride (SDF) has been identified as an efficient topical cariostatic and preventive medicament for managing ECC in children who cannot be treated conventionally. Since SDF is an emerging alternative for caries prevention and arrest, AAPD recommends more practice-based research to evaluate its efficacy. The aim of this study was to evaluate the effectiveness of silver diamine fluoride at different time durations of application in treatment of carious primary teeth in children with least access to dental care. Methodology: This was a prospective, randomized, field trial that included patients with primary tooth. Primary tooth presenting carious lesion in ICDAS 3-6 category were randomly assigned to one of the three groups. Results: At 3-week mean rank of lesions arrested in Group 1 and Group 2 were 73.3 and 72.29, whereas it was 86.9 in case of Group 3. At 6 months it was 79.15, 77.29, and 75.96 in Group 1, 2, and 3, respectively (p > 0.05). Conclusion: SDF is effective in controlling caries progression in both cavitated and non-cavitated lesion with minimal time duration of application (30 seconds). This approach may be of great utility as an alternative to other expensive preventive and therapeutic methods in communities with limited resources. Nonetheless obtaining caregiver consent is mandatory. How to cite this article: Thakur S, Sojan M, Singhal P, et al. A Comparative Study to Evaluate the Effectiveness of Silver Diamine Fluoride at Different Time Durations of Application in Treating Carious Primary Teeth: A Randomized Trial. Int J Clin Pediatr Dent 2022;15(S-2):S147-S150.
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Antenatal posterior fossa cystic lesions are intimidating due to overlapping imaging features of benign and severe malformations. Sonographic assessment of the posterior fossa with good resolution median sagittal and axial views, either primary or secondarily reconstructed, plays the lead role in antenatal evaluation, further enhanced when sequential assessments are added. We present 10 cases of fetal posterior fossa cystic lesions diagnosed in the first and second trimesters that were sequentially analyzed and followed up till delivery or termination. The ultrasound imaging appearance, evolution, and morphometry have been presented in this article.
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Cysts , Dandy-Walker Syndrome , Humans , Female , Pregnancy , Cranial Fossa, Posterior/diagnostic imaging , Cranial Fossa, Posterior/abnormalities , Cranial Fossa, Posterior/pathology , Pregnancy Trimester, Second , Fetus/pathology , Cysts/pathology , Magnetic Resonance Imaging/methodsABSTRACT
Background: A significant improvement in the nasal symmetry after presurgical nasoalveolar molding (PNAM) is seen in complete unilateral cleft lip and palate (UCLP) infants. However, the follow-up changes in the nasal symmetry before and after PNAM and surgical repair have not been well documented. Materials and Methods: The purpose of this retrospective study is to assess the progressive changes in the nasal symmetry after PNAM and primary cheiloplasty to 1 year in complete UCLP infants. Out of 28 complete UCLP patients who were given PNAM treatment during the period between January 2014 to March 2019, 19 UCLP infants could be included for the study. Submental oblique photographs at the initial visit (T1), immediately after cheiloplasty (T2), and 1 year (T3) after cheiloplasty were selected, and quantity of nasal asymmetry at each period (T1-T2; T1-T3; and T2-T3) was analyzed by paired t-test (P < 0.05). Results: The quantity of asymmetry revealed that there was a highly significant improvement (P < 0.001) in nasal asymmetry at T1-T2 and T1-T3. Nonsignificant relapse was observed at T2-T3; however, a significant relapse in nasal dome height was observed during this period. Conclusion: The improvement in the nasal symmetry after cheiloplasty in PNAM-treated patients is maintained till 1 year postsurgically though there is a nonsignificant relapse.
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OBJECTIVE: To compare outcomes in higher-order multiple pregnancies reduced to dichorionic diamniotic (DCDA) twins with primary DCDA twins and singleton pregnancies. METHODS: This prospective observational study included all higher-order multiple pregnancies that underwent ultrasound-guided transabdominal fetal reduction at 11-13 weeks of gestation from January 2018 to June 2020. Outcomes were compared with 100 primary DCDA twins and 1078 singletons. RESULTS: Sixty-four higher-order multiples underwent reduction at mean gestational age of 11.46 weeks. Of the reduced pregnancies, 3.12% resulted in miscarriage before 24 weeks compared with 2% (2/100) of primary twins and 0.74% of singletons (P = 0.09). The mean gestational age at delivery was 33.48 weeks for reduced twins, 34.52 weeks for primary twins (P = 0.10) and 38.14 weeks for singletons (P < 0.001). Compared with primary twins, the adjusted odds of preterm delivery before 34 weeks and before 36 weeks for reduced twins were 0.56 (95% confidence interval [CI] 0.48-3.54, P = 0.62) and 0.84 (95% CI 0.78-8.85, P = 0.08), respectively. There was no significant difference in rates of pre-eclampsia, Cesarean delivery, birth weight below the 10th and 3rd centiles, and perinatal mortality among primary and reduced twins. All risks were significantly lower in singleton pregnancies. CONCLUSION: Reduced twins have similar obstetric and perinatal outcomes as primary twins, but adverse outcomes are significantly higher in both groups when compared with singleton pregnancies.
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Pregnancy Reduction, Multifetal , Pregnancy, Twin , Female , Gestational Age , Humans , Infant , Infant, Newborn , Pregnancy , Pregnancy Outcome , Pregnancy Reduction, Multifetal/adverse effects , Pregnancy Reduction, Multifetal/methods , Retrospective Studies , Twins, DizygoticABSTRACT
Diagnosing tooth resorption is critical for effective management. Internal resorption is a rare phenomenon, presenting with a pathognomonic clinical sign of a "pink spot" in the crown. In case of infection-induced tooth resorption, endodontic therapy needs to be carried out to decrease bacterial load within the pulp space and facilitate repair of resorbed tooth structure. Following inflammation of the pulpal tissue, clastic cells infiltrate the pulp chamber along with physiological blood supply and thereby initiate the process of internal tooth resorption. Tooth resorption involves two phases: an initial injury phase and the subsequent stimulation phase. The injury phase pertains to the pulpal tissue getting injured by a noxious stimulus, whereas stimulation is caused by the infection present in the vicinity of the tooth. Additionally, in a case where the resorption is caused due to trauma, a multidisciplinary approach becomes imperative so that the long-term solution is achieved. This paper presents a case with internal resorption with a poor prognosis. However, surgical intervention was made to preserve the tooth until a definitive procedure can be instituted. How to cite this article: Deep A, Thakur S, Singhal P, et al. Management of Root Perforation due to Internal Resorption: A 1-year follow-up Study. Int J Clin Pediatr Dent 2021;14(4):593-595.
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BACKGROUND: Presurgical nasoalveolar molding (PNAM) was introduced by Grayson et al., in 1993 to presurgically mold the alveolus, lip, and nose in infants with cleft lip and palate (CLP). The aim of this comparative clinical trial was to evaluate the efficacy and efficiency of Modified and Conventional Grayson's PNAM in patients concerning morphological and anatomical changes in maxillary alveolus, nasal symmetry, number of visits, and duration of treatment. MATERIALS AND METHODS: In this comparative clinical trial study, 16 infants with unilateral complete CLP were equally divided into two groups: Group I (modified PNAM technique using titanium molybdenum alloy [TMA] wire nasal stent) and Group II (conventional PNAM technique using stainless steel wire nasal stent). Patient photographic evaluation of nasal symmetry and maxillary study model CAD-CAM analysis, pre- and post-operatively in both groups, were compared using a paired t-test between the groups using the Chi-square test with P < 0.05 as statistically significant. RESULTS: In both groups, on evaluating nasal measurements, statistically significant (P < 0.05) decrease in nasal width and increase in columella deviation angle, a decrease of nostril length, and an increase of columella length in Group I were observed. On maxillary study model evaluation, a statistically significant (P < 0.05) decrease in width of the alveolar cleft was noticed in both groups and lateral deviation of the incisal point in Group I and width of the palatal cleft in Group II was noticed. CONCLUSION: This study showed a morphological improvement in nasal symmetry and maxillary alveolar morphology in complete unilateral CLP patients, treated with both Modified and Conventional PNAM techniques, with the Modified PNAM technique being more efficient for treatment duration and the number of adjustments as there are less number of visits.
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Ankyloglossia or "tongue-tie," observed in neonates, children, or adults, is characterized by an abnormally short, thick, fibrosed lingual frenulum which may cause restriction in function of tongue including limitation in tongue movement. The use of Hazelbaker Assessment Tool for Lingual Frenulum Function allows elaborate and extensive scoring of the anomaly. This article reports the surgical management of an 11-year-old patient having ankyloglossia associated with restricted movement of tongue and difficulty in speech. Six months postoperatively, the patient showed uneventful healing and was satisfied with the procedure.
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Chromosomal aberrations such as parental balanced translocation contribute to a significant proportion of recurrent pregnancy losses. These have extreme genetic implications on the foetus which can either cause physical and/or mental retardation or early death. In this study, we report a unique clinical case of a couple with three consecutive pregnancy losses and we aim to determine the genetic abnormalities causing the miscarriages. Conventional cytogenetic and molecular genetic analysis were performed on the products of conception as well as for the parents. Chromosomal analysis was performed based on the ISCN 2016 guidelines. This was followed by Chromosomal microarray analysis carried out using ISCA consortium probe set (8X60K). Genetic testing for the 1st product of conception was not performed. However, the 2nd and 3rd products of conception indicated an autosomal trisomy 22 and a 3.7 Mb deletion of 2p (cytoband p25.3) along with 13.6 Mb duplication of 16p (cytoband p13.3p13.12), respectively. The paternal karyotype was normal but mother showed a balanced translocation 46,XX,t(2;16)(p25.3;p13.3). This was parallel to the products of conception microarray findings, unbalanced chromosomal abnormality in the foetus. Balanced translocation carriers are susceptible for meiotic nondisjunction processes and early detection of genetic anomalies can be informative to parents trying to conceive. Genetic analysis of the abortus after the 1st loss can be helpful to understand the cause of miscarriage. A combined approach with microarray and karyotyping of the products of conception can be important to determine the specific aberrations in the foetal chromosomes leading to abortion.