Aim This study was conducted to evaluate the impact of health promotion interventions on early childhood caries prevention in 2-5 year-olds receiving dental treatment under general anesthesia. Materials and Methods Thirty-seven mother-child couples presenting to the clinic of the Dental School of Tehran University of Medical Sciences for treatment under general anesthesia were randomly divided to two groups 19 couples in the pamphlet and fluoride varnish four times a year, and 18 couples in the pamphlet plus six phone call reminders and fluoride varnish four times a year. A standard questionnaire on demographics and children oral health-related practice of parents was completed by respondents. On children's oral examination, the Simplified Oral Hygiene Index (OHI-S), dmft, and the presence of new white spot lesions (WS) were recorded in both phases. At the final stage, Early Childhood Oral Health Impact Scale (ECOHIS) was completed by parents. The length of follow-up was 24 months. Results In both groups, thever, in the reminder group, the mothers' perception of their perceived ability to make children brush their teeth twice a day was improved. Copyright © 2020 Razeghi, Amiri, Mohebbi and Kharazifard.Down syndrome (DS) is the most common genetic syndrome associated with immune defects. https://www.selleckchem.com/products/BEZ235.html The extent of immune dysregulation in DS is substantial, spanning the innate and adaptive systems and including anomalies in T and B cells, monocytes, neutrophil chemotaxis, circulating cytokines, and suboptimal antibody responses which all contribute to an increased risk of infections, poorer clinical outcomes and chronic inflammation in this vulnerable cohort. Other aspects of innate immunity may also be abnormal and contribute to the increased morbidity and warrant further interrogation such as gamma delta T cell function, the inflammasome, Toll-like receptors and their pathways. Pharmacotherapies such as pavilizumab, pneumococcal and influenza immunizations, as well as potential immunoprophylactic agents such as pidotimod, azithromycin and Broncho-Vaxom may help alleviate the infectious consequences. Children with DS need to be managed with a heightened sense of awareness and urgency in the setting of sepsis and signs of chronic inflammation need regular screening and appropriate follow up. Copyright © 2020 Huggard, Doherty and Molloy.Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and cardiovascular and neurological impairment. In our report, we present a case of a 16-year-old female with skeletal abnormalities, reduced articular mobility, skin, and muscular hypertrophy and cardiovascular defects characteristic of Myhre syndrome. Long-term pulmonary hypertension and arterial hypertension were persistent in spite of antihypertensive treatment. Our patient was also diagnosed with chronic kidney disease and Dunbar syndrome, which is an external compression of the coeliac trunk or coeliac artery by the surrounding tissues. Until now, only a few cases of renal complications in Myhre syndrome have been published. We describe for the first time a female patient with genetically confirmed Myhre syndrome caused by the p.Ile500Val SMAD4 mutation presenting with an unusual occurrence of congenital vesicoureteral reflux, proteinuria with a decreased renal function, and a condition recognized as Dunbar syndrome. Copyright © 2020 Varenyiova, Hrckova, Ilencikova and Podracka.UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the production of extracellular matrix components which are essential to the migration and connectivity of neurons early in human brain development. In this report, we describe one child of a consanguineous family who presented with distinct clinical features including global developmental delay, axial hypotonia, bilateral undescended testis, and subtle dysmorphic features. Whole genome sequencing and a segregation was performed to identify the genetic cause of the disease within the family. Though mutations in the UGDH protein have been described as causing developmental delay in various model organisms, to our knowledge, this is the first identification of the novel homozygous missense variant in exon8 of UGDH NM_003359.3 c.950 G>A (p.Arg317Gln) and most likely the cause of the patient's phenotype. This variant falls in an active region and replaces the highly conserved Arginine 317 residues across mammals. Copyright © 2020 Alhamoudi, Bhat, Nashabat, Alharbi, Alyafee, Asiri, Umair and Alfadhel.Aorto-left ventricular tunnel (ALVT) is a rare congenital heart defect. Surgery has to be performed early to avoid life-threatening complications. Prenatal diagnosis of this defect is challenging. We report a case of ALVT diagnosed in a fetus showing premature severe cardiac failure at 24 GA. The new born was operated at day 3 of life with good results. Two years later, he is still doing well recovering a complete normal cardiac function. ALVT should be suggested in front of any fetal cardiac failure. Thanks to early diagnosis, prompt neonatal management can be organized and allows positive outcome. Copyright © 2020 Truong, Moreau De Bellaing, Vialle, Haydar, Vouhe, Jouk and Blaysat.Perinatal asphyxia (PA) is a burdening pathology with high short-term mortality and severe long-term consequences. Its incidence, reaching as high as 10 cases per 1000 live births in the less developed countries, prompts the need for better awareness and prevention of cases at risk, together with management by easily applicable protocols. PA acts first and foremost on the nervous tissue, but also on the heart, by hypoxia and subsequent ischemia-reperfusion injury. Myocardial development at birth is still incomplete and cannot adequately respond to this aggression. Cardiac dysfunction, including low ventricular output, bradycardia, and pulmonary hypertension, complicates the already compromised circulatory status of the newborn with PA. Multiorgan and especially cardiovascular failure seem to play a crucial role in the secondary phase of hypoxic-ischemic encephalopathy (HIE) and its high mortality rate. Hypothermia is an acceptable solution for HIE, but there is a fragile equilibrium between therapeutic gain and cardiovascular instability.
Aim This study was conducted to evaluate the impact of health promotion interventions on early childhood caries prevention in 2-5 year-olds receiving dental treatment under general anesthesia. Materials and Methods Thirty-seven mother-child couples presenting to the clinic of the Dental School of Tehran University of Medical Sciences for treatment under general anesthesia were randomly divided to two groups 19 couples in the pamphlet and fluoride varnish four times a year, and 18 couples in the pamphlet plus six phone call reminders and fluoride varnish four times a year. A standard questionnaire on demographics and children oral health-related practice of parents was completed by respondents. On children's oral examination, the Simplified Oral Hygiene Index (OHI-S), dmft, and the presence of new white spot lesions (WS) were recorded in both phases. At the final stage, Early Childhood Oral Health Impact Scale (ECOHIS) was completed by parents. The length of follow-up was 24 months. Results In both groups, thever, in the reminder group, the mothers' perception of their perceived ability to make children brush their teeth twice a day was improved. Copyright © 2020 Razeghi, Amiri, Mohebbi and Kharazifard.Down syndrome (DS) is the most common genetic syndrome associated with immune defects. https://www.selleckchem.com/products/BEZ235.html The extent of immune dysregulation in DS is substantial, spanning the innate and adaptive systems and including anomalies in T and B cells, monocytes, neutrophil chemotaxis, circulating cytokines, and suboptimal antibody responses which all contribute to an increased risk of infections, poorer clinical outcomes and chronic inflammation in this vulnerable cohort. Other aspects of innate immunity may also be abnormal and contribute to the increased morbidity and warrant further interrogation such as gamma delta T cell function, the inflammasome, Toll-like receptors and their pathways. Pharmacotherapies such as pavilizumab, pneumococcal and influenza immunizations, as well as potential immunoprophylactic agents such as pidotimod, azithromycin and Broncho-Vaxom may help alleviate the infectious consequences. Children with DS need to be managed with a heightened sense of awareness and urgency in the setting of sepsis and signs of chronic inflammation need regular screening and appropriate follow up. Copyright © 2020 Huggard, Doherty and Molloy.Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and cardiovascular and neurological impairment. In our report, we present a case of a 16-year-old female with skeletal abnormalities, reduced articular mobility, skin, and muscular hypertrophy and cardiovascular defects characteristic of Myhre syndrome. Long-term pulmonary hypertension and arterial hypertension were persistent in spite of antihypertensive treatment. Our patient was also diagnosed with chronic kidney disease and Dunbar syndrome, which is an external compression of the coeliac trunk or coeliac artery by the surrounding tissues. Until now, only a few cases of renal complications in Myhre syndrome have been published. We describe for the first time a female patient with genetically confirmed Myhre syndrome caused by the p.Ile500Val SMAD4 mutation presenting with an unusual occurrence of congenital vesicoureteral reflux, proteinuria with a decreased renal function, and a condition recognized as Dunbar syndrome. Copyright © 2020 Varenyiova, Hrckova, Ilencikova and Podracka.UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the production of extracellular matrix components which are essential to the migration and connectivity of neurons early in human brain development. In this report, we describe one child of a consanguineous family who presented with distinct clinical features including global developmental delay, axial hypotonia, bilateral undescended testis, and subtle dysmorphic features. Whole genome sequencing and a segregation was performed to identify the genetic cause of the disease within the family. Though mutations in the UGDH protein have been described as causing developmental delay in various model organisms, to our knowledge, this is the first identification of the novel homozygous missense variant in exon8 of UGDH NM_003359.3 c.950 G>A (p.Arg317Gln) and most likely the cause of the patient's phenotype. This variant falls in an active region and replaces the highly conserved Arginine 317 residues across mammals. Copyright © 2020 Alhamoudi, Bhat, Nashabat, Alharbi, Alyafee, Asiri, Umair and Alfadhel.Aorto-left ventricular tunnel (ALVT) is a rare congenital heart defect. Surgery has to be performed early to avoid life-threatening complications. Prenatal diagnosis of this defect is challenging. We report a case of ALVT diagnosed in a fetus showing premature severe cardiac failure at 24 GA. The new born was operated at day 3 of life with good results. Two years later, he is still doing well recovering a complete normal cardiac function. ALVT should be suggested in front of any fetal cardiac failure. Thanks to early diagnosis, prompt neonatal management can be organized and allows positive outcome. Copyright © 2020 Truong, Moreau De Bellaing, Vialle, Haydar, Vouhe, Jouk and Blaysat.Perinatal asphyxia (PA) is a burdening pathology with high short-term mortality and severe long-term consequences. Its incidence, reaching as high as 10 cases per 1000 live births in the less developed countries, prompts the need for better awareness and prevention of cases at risk, together with management by easily applicable protocols. PA acts first and foremost on the nervous tissue, but also on the heart, by hypoxia and subsequent ischemia-reperfusion injury. Myocardial development at birth is still incomplete and cannot adequately respond to this aggression. Cardiac dysfunction, including low ventricular output, bradycardia, and pulmonary hypertension, complicates the already compromised circulatory status of the newborn with PA. Multiorgan and especially cardiovascular failure seem to play a crucial role in the secondary phase of hypoxic-ischemic encephalopathy (HIE) and its high mortality rate. Hypothermia is an acceptable solution for HIE, but there is a fragile equilibrium between therapeutic gain and cardiovascular instability.
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