M. Plotogea, C. Mehedințu, V. Varlas, A. Petca, R. Mateescu, A. Edu, Vlad Dima, C. Andreescu, Gabriel Marina
Congenital diaphragmatic hernia (CDH) is a structural birth defect that with varying degrees of severity that results in significant neonatal morbidity and mortality. CDH occurs in 1:2,500 live births, and despite the advances in prenatal diagnosis and neonatal intensive care, the mortality and morbidity rate in infants with CDH is significant. In this article, we tried to summarize the main modalities of diagnosis, prognosis and medical treatment in CDH cases, found in specialty literature.
{"title":"The management of congenital diaphragmatic hernia","authors":"M. Plotogea, C. Mehedințu, V. Varlas, A. Petca, R. Mateescu, A. Edu, Vlad Dima, C. Andreescu, Gabriel Marina","doi":"10.37897/rjp.2022.4.3","DOIUrl":"https://doi.org/10.37897/rjp.2022.4.3","url":null,"abstract":"Congenital diaphragmatic hernia (CDH) is a structural birth defect that with varying degrees of severity that results in significant neonatal morbidity and mortality. CDH occurs in 1:2,500 live births, and despite the advances in prenatal diagnosis and neonatal intensive care, the mortality and morbidity rate in infants with CDH is significant. In this article, we tried to summarize the main modalities of diagnosis, prognosis and medical treatment in CDH cases, found in specialty literature.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42848579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Priya Dharshini Duruvasal, S. Ramasamy, Jaishree Vasudevan
Aim. The current study aimed to determine the pattern of birth weights, lengths and occipitofrontal circumference of babies born in tertiary center. Method. Length, occipitofrontal circumference and weight of babies were collected from medical records over last 5 years. These parameters were then plotted in growth chart to find out the nomogram of babies born in our center. Results. A total of 3169 babies (1482 males and 1687 females) were studied. The overall mean birth weight (± standard deviation (SD)) was 2994±419 g, the mean ±SD length 49.4±2.3 cm, the mean ±SD OFC 33.7±1.7 cm. Conclusion. According to NFHS 5, 17% had low birth weight in Tamil Nadu, which is comparatively higher than our study (7.6%). This suggest that with improved care to the antenatal mothers we can reduce the incidence of low-birth-weight babies.
{"title":"Trends of gestational age-related anthropometric parameters of newborns in tertiary care center","authors":"Priya Dharshini Duruvasal, S. Ramasamy, Jaishree Vasudevan","doi":"10.37897/rjp.2022.4.6","DOIUrl":"https://doi.org/10.37897/rjp.2022.4.6","url":null,"abstract":"Aim. The current study aimed to determine the pattern of birth weights, lengths and occipitofrontal circumference of babies born in tertiary center. Method. Length, occipitofrontal circumference and weight of babies were collected from medical records over last 5 years. These parameters were then plotted in growth chart to find out the nomogram of babies born in our center. Results. A total of 3169 babies (1482 males and 1687 females) were studied. The overall mean birth weight (± standard deviation (SD)) was 2994±419 g, the mean ±SD length 49.4±2.3 cm, the mean ±SD OFC 33.7±1.7 cm. Conclusion. According to NFHS 5, 17% had low birth weight in Tamil Nadu, which is comparatively higher than our study (7.6%). This suggest that with improved care to the antenatal mothers we can reduce the incidence of low-birth-weight babies.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45408042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Ene, Camelia Alina Basa, Catalina Ioana Grama, Adelina Maria Giubega, B. Gont, A. Nemeș, I. Cuzino, A. Bivoleanu, A. Toma, R. Bohîlţea, Vlad Dima
Aim. The paper represents a review of the current state of knowledge regarding lenticulostriate vasculopathy (LSV) in premature and term neonates. Material and method. There are reviewed the definition, the history of this diagnosis, the epidemiology, the anatomy of the vessels the etiology and the methods of diagnosis. Results. LSV is defined as the bright hyperechoic blood vessels in the region of the thalamus and basal ganglia. It was first described in 1960. The incidence is 0.3-2% of live births. The etiology is infectious (congenital rubella, cytomegalovirus, toxoplasma, or other chronic intrauterine infections), hypoxic-ischemic, and in many cases idiopathic (without a clear cause). The diagnosis is mainly done by ultrasonography – the are also proposed classification systems based on the number of vessels affected and/or the echogenicity of the vessels involved. Conclusion. LSV represents a pathology recognized for a long time, in the past, it was considered mainly associated with chronic intrauterine infections, at present, it is more and more seen as a consequence of perinatal hypoxic events. Further large follow-up studies are needed in order to better characterize the etiology and prognosis of this pathologic condition.
{"title":"Diagnosis of lenticulostriate vasculopathy – past, present and the future","authors":"I. Ene, Camelia Alina Basa, Catalina Ioana Grama, Adelina Maria Giubega, B. Gont, A. Nemeș, I. Cuzino, A. Bivoleanu, A. Toma, R. Bohîlţea, Vlad Dima","doi":"10.37897/rjp.2022.4.2","DOIUrl":"https://doi.org/10.37897/rjp.2022.4.2","url":null,"abstract":"Aim. The paper represents a review of the current state of knowledge regarding lenticulostriate vasculopathy (LSV) in premature and term neonates. Material and method. There are reviewed the definition, the history of this diagnosis, the epidemiology, the anatomy of the vessels the etiology and the methods of diagnosis. Results. LSV is defined as the bright hyperechoic blood vessels in the region of the thalamus and basal ganglia. It was first described in 1960. The incidence is 0.3-2% of live births. The etiology is infectious (congenital rubella, cytomegalovirus, toxoplasma, or other chronic intrauterine infections), hypoxic-ischemic, and in many cases idiopathic (without a clear cause). The diagnosis is mainly done by ultrasonography – the are also proposed classification systems based on the number of vessels affected and/or the echogenicity of the vessels involved. Conclusion. LSV represents a pathology recognized for a long time, in the past, it was considered mainly associated with chronic intrauterine infections, at present, it is more and more seen as a consequence of perinatal hypoxic events. Further large follow-up studies are needed in order to better characterize the etiology and prognosis of this pathologic condition.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44456029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Ciocârlan, R. Bors, Maria Anghelache, Vlad Dima, M. Plotogea, V. Varlas
About 3-5% of pregnancies are complicated by preeclampsia (PE), a multisystem disorder of exact unknown etiology, characterized by new-onset hypertension (>140/90 mmHg), proteinuria, and/or evidence of organ dysfunction. Although it is not yet completely understood what causes PE, maternal and placental factors seem to be involved. Endothelial dysfunction, maternal vascular inflammation, and remodeling of spiral arteries during placentation seem to be the underlying mechanisms of this pregnancy-related disease. Acute PE neurological complications, such as eclamptic seizures, cerebral edema, and intracerebral hemorrhage, are responsible for more than 70% of maternal deaths. Furthermore, long-term complications, such as cognitive dysfunction, the elevated lifetime risk of cerebrovascular disease, and persistent white matter lesions increase the rate of PE-related maternal morbidity and mortality. Hypertensive disorders associated with pregnancy affect not only the mother but also the baby by restricting the supply of nutrients and oxygen to the fetus. This has been associated with impaired cognitive development in children, increased lifetime cerebrovascular, cardiovascular, and metabolic risk, low intelligence quotient (IQ) and mental development indices (MDI), and more depression symptoms later in life. This study aims to review the literature and synthesize available information about preeclampsia and its neurological consequences on both the mother and the fetus.
{"title":"Neurological lesions of the mother and the fetus in preeclampsia – an overview of the literature","authors":"M. Ciocârlan, R. Bors, Maria Anghelache, Vlad Dima, M. Plotogea, V. Varlas","doi":"10.37897/rjp.2022.s2.13","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.13","url":null,"abstract":"About 3-5% of pregnancies are complicated by preeclampsia (PE), a multisystem disorder of exact unknown etiology, characterized by new-onset hypertension (>140/90 mmHg), proteinuria, and/or evidence of organ dysfunction. Although it is not yet completely understood what causes PE, maternal and placental factors seem to be involved. Endothelial dysfunction, maternal vascular inflammation, and remodeling of spiral arteries during placentation seem to be the underlying mechanisms of this pregnancy-related disease. Acute PE neurological complications, such as eclamptic seizures, cerebral edema, and intracerebral hemorrhage, are responsible for more than 70% of maternal deaths. Furthermore, long-term complications, such as cognitive dysfunction, the elevated lifetime risk of cerebrovascular disease, and persistent white matter lesions increase the rate of PE-related maternal morbidity and mortality. Hypertensive disorders associated with pregnancy affect not only the mother but also the baby by restricting the supply of nutrients and oxygen to the fetus. This has been associated with impaired cognitive development in children, increased lifetime cerebrovascular, cardiovascular, and metabolic risk, low intelligence quotient (IQ) and mental development indices (MDI), and more depression symptoms later in life. This study aims to review the literature and synthesize available information about preeclampsia and its neurological consequences on both the mother and the fetus.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49232846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Bors, Maria Anghelache, M. Ciocârlan, Vlad Dima, M. Plotogea, V. Varlas
Zika virus is a flavivirus transmitted mainly by Aedes mosquitoes, and pregnant women are usually asymptomatic or have non-specific symptoms. The virus can cross the placental barrier and is intensely neurotropic, with destructive and malformative consequences on the fetal central nervous system, causing a series of severe abnormalities in infected fetuses in the first trimester, more severe than in TORCH infections. Viral infection can be suspected during ultrasound screening by highlighting severe microcephaly and macroscopic calcifications in the fetal brain. In addition, auditory, ocular, or musculoskeletal abnormalities have been reported. Prophylaxis of infection in pregnant women is essential due to the increased risk of fetal damage currently, there is no vaccine or approved treatment.
{"title":"Zika virus disease in pregnancy and associated fetal neurological complications – a descriptive review","authors":"R. Bors, Maria Anghelache, M. Ciocârlan, Vlad Dima, M. Plotogea, V. Varlas","doi":"10.37897/rjp.2022.s2.14","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.14","url":null,"abstract":"Zika virus is a flavivirus transmitted mainly by Aedes mosquitoes, and pregnant women are usually asymptomatic or have non-specific symptoms. The virus can cross the placental barrier and is intensely neurotropic, with destructive and malformative consequences on the fetal central nervous system, causing a series of severe abnormalities in infected fetuses in the first trimester, more severe than in TORCH infections. Viral infection can be suspected during ultrasound screening by highlighting severe microcephaly and macroscopic calcifications in the fetal brain. In addition, auditory, ocular, or musculoskeletal abnormalities have been reported. Prophylaxis of infection in pregnant women is essential due to the increased risk of fetal damage currently, there is no vaccine or approved treatment.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44017449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria Anghelache, R. Bors, M. Ciocârlan, Vlad Dima, M. Plotogea, V. Varlas
Multiple sclerosis (MS) is a neurological condition found in young women of reproductive age, and pregnancy can be a challenge. Lack of consensus on the conduct and impact of MS on pregnancy outcomes requires adequate counseling for these patients. Early initiation of treatment in MS to prevent long-term disability is extremely important because delaying treatment after the woman achieves irreversible complications may accompany reproductive goals. Aggression and disease progression requires an ideal schedule for conception. Initiation of treatment and successful pregnancy monitoring are clear goals of healthcare providers. Counseling of patients with MS before pregnancy, conduct during pregnancy, mode of delivery, and postpartum management, to which is added the choice of type of medication are important criteria that prevent complications secondary to the clinical course of this disease.
{"title":"Multiple sclerosis in pregnancy – current neurological considerations","authors":"Maria Anghelache, R. Bors, M. Ciocârlan, Vlad Dima, M. Plotogea, V. Varlas","doi":"10.37897/rjp.2022.s2.12","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.12","url":null,"abstract":"Multiple sclerosis (MS) is a neurological condition found in young women of reproductive age, and pregnancy can be a challenge. Lack of consensus on the conduct and impact of MS on pregnancy outcomes requires adequate counseling for these patients. Early initiation of treatment in MS to prevent long-term disability is extremely important because delaying treatment after the woman achieves irreversible complications may accompany reproductive goals. Aggression and disease progression requires an ideal schedule for conception. Initiation of treatment and successful pregnancy monitoring are clear goals of healthcare providers. Counseling of patients with MS before pregnancy, conduct during pregnancy, mode of delivery, and postpartum management, to which is added the choice of type of medication are important criteria that prevent complications secondary to the clinical course of this disease.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41684641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The human brain begins to develop from intra-uterine life and continues to develop throughout childhood until adolescence. Brain cells are mostly formed before birth, although nerve connections develop later. Neurological disorders have a wide spec-trum and can have various causes, complications, symptoms and effects. These neurological conditions can affect people regardless of age, however, few neurological conditions are present only in the early years of development
{"title":"Neurological conditions – a permanent challenge from pregnancy to childhood","authors":"Vlad Dima","doi":"10.37897/rjp.2022.s2.1","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.1","url":null,"abstract":"The human brain begins to develop from intra-uterine life and continues to develop throughout childhood until adolescence. Brain cells are mostly formed before birth, although nerve connections develop later. Neurological disorders have a wide spec-trum and can have various causes, complications, symptoms and effects. These neurological conditions can affect people regardless of age, however, few neurological conditions are present only in the early years of development","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45535632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Toma, M. Iriciuc, I. Cuzino, Brindusa Petcariu, Raluca Olteanu, B. Gont, Vlad Dima, V. Varlas, R. Bohîlţea
Background. Cerebral venous sinus thrombosis (CVST) is considered a rare condition in neonates. We present the experience of our unit in the diagnosis and management of inborn patients with CVST, in order to increase awareness of this condition and the chances of early diagnosis and management. Material and method. We present three cases of patients born in our department between 2019-2022 with CVST. There are reviewed: the history, the symptomatology in the neonatal period, the imaging findings and the treatment in the hospital. In all the cases the diagnosis was suspected after an ultrasound examination and confirmed by MRI. After discharge from the hospital the patients were followed by the pediatric neurologist and were included in an early intervention program for motor and occupational therapy. There are also reviewed the motor, cognitive and language outcomes of the patients. Results. The first case is represented by the term neonate with seizures at 40 hours of age. The seizures were controlled by levetiracetam. The ultrasound and MRI showed lesions with a venous topography of different ages. The patient developed unilateral motor deficit delayed milestones, and cognitive and language impairment. The second case is an asymptomatic neonate diagnosed at 3 days of life by a routine ultrasound with right-sided intraparenchymal and interhemispheric hematomas and CSVT. The patient developed a head growth deficit and motor delay. The third case is a term LGA neonate with respiratory distress that was diagnosed with a white matter lesion and an old CVST. The patient presented with a mild motor deficit Conclusion. The diagnosis of CVST requires a high awareness about the risk factors, the presenting symptoms and ultrasound suggestive findings – this in turn leads to an appropriate indication for MRI confirmation of the lesions and a better prognosis because the appropriate treatment could be provided and the patient could be included in an early intervention program in order to decrease de incidence and severity of the long-term neuro-behavioral consequences.
{"title":"Neonatal cerebral venous sinus thrombosis. Diagnosis, management and outcome – a short case series","authors":"A. Toma, M. Iriciuc, I. Cuzino, Brindusa Petcariu, Raluca Olteanu, B. Gont, Vlad Dima, V. Varlas, R. Bohîlţea","doi":"10.37897/rjp.2022.s2.17","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.17","url":null,"abstract":"Background. Cerebral venous sinus thrombosis (CVST) is considered a rare condition in neonates. We present the experience of our unit in the diagnosis and management of inborn patients with CVST, in order to increase awareness of this condition and the chances of early diagnosis and management. Material and method. We present three cases of patients born in our department between 2019-2022 with CVST. There are reviewed: the history, the symptomatology in the neonatal period, the imaging findings and the treatment in the hospital. In all the cases the diagnosis was suspected after an ultrasound examination and confirmed by MRI. After discharge from the hospital the patients were followed by the pediatric neurologist and were included in an early intervention program for motor and occupational therapy. There are also reviewed the motor, cognitive and language outcomes of the patients. Results. The first case is represented by the term neonate with seizures at 40 hours of age. The seizures were controlled by levetiracetam. The ultrasound and MRI showed lesions with a venous topography of different ages. The patient developed unilateral motor deficit delayed milestones, and cognitive and language impairment. The second case is an asymptomatic neonate diagnosed at 3 days of life by a routine ultrasound with right-sided intraparenchymal and interhemispheric hematomas and CSVT. The patient developed a head growth deficit and motor delay. The third case is a term LGA neonate with respiratory distress that was diagnosed with a white matter lesion and an old CVST. The patient presented with a mild motor deficit Conclusion. The diagnosis of CVST requires a high awareness about the risk factors, the presenting symptoms and ultrasound suggestive findings – this in turn leads to an appropriate indication for MRI confirmation of the lesions and a better prognosis because the appropriate treatment could be provided and the patient could be included in an early intervention program in order to decrease de incidence and severity of the long-term neuro-behavioral consequences.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42001667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Cardos, Vlad Dima, M. Predescu, Mihaela Demetrian, F. Nedelea
Prader-Willi syndrome (PWS) is an imprinted neuro-behavioral syndrome, affecting many organ systems, characterized by severe hypothalamic-pituitary dysfunction, severe hypotonia, feeding difficulties in the neonatal period, followed by hyperphagia with gradual development of morbid obesity since early childhood, short stature, hypogonadism, infertility, characteristic facial features, impaired motor and language development, cognitive impairment of varying degrees, delayed speech, increased risk of developing autism spectrum disorders (ASD), impaired social skills, and behavioral problems and / or severe psychiatric problems. Loss of expression of the preferentially paternally expressed of genes from the chromosomal region 15q11-q13 are the basis of pathogenesis of PWS, which occur through several mechanisms: deletion of 5-6 Mb DNA fragment from the 15q11-q13 region of the inherited paternal chromosome (65-75%), maternal uniparental disomy (mUPD) (in 20-30%) and Imprinting center (IC) defects, as microdeletions and epimutations (in 1-4%). In this paper, we present two cases diagnosed with PWS from our experience. The importance of diagnosis and familial recurrence risk will be discussed, as well as genotype-phenotype relationships in PWS. Patients with PWS should benefit from multidisciplinary management very early for greatly improving their quality of life, taking into consideration that obesity is a major factor influencing morbidity and mortality. In addition, a better understanding of the molecular basis of PWS pathogenesis offers hope for the development of new, revolutionary, epigenetic therapies in PWS, as well as in other genetic imprinting diseases.
{"title":"Prader-Willy syndrome: heterogenous genetic mechanisms in a wide phenotypic spectrum","authors":"G. Cardos, Vlad Dima, M. Predescu, Mihaela Demetrian, F. Nedelea","doi":"10.37897/rjp.2022.s2.3","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.3","url":null,"abstract":"Prader-Willi syndrome (PWS) is an imprinted neuro-behavioral syndrome, affecting many organ systems, characterized by severe hypothalamic-pituitary dysfunction, severe hypotonia, feeding difficulties in the neonatal period, followed by hyperphagia with gradual development of morbid obesity since early childhood, short stature, hypogonadism, infertility, characteristic facial features, impaired motor and language development, cognitive impairment of varying degrees, delayed speech, increased risk of developing autism spectrum disorders (ASD), impaired social skills, and behavioral problems and / or severe psychiatric problems. Loss of expression of the preferentially paternally expressed of genes from the chromosomal region 15q11-q13 are the basis of pathogenesis of PWS, which occur through several mechanisms: deletion of 5-6 Mb DNA fragment from the 15q11-q13 region of the inherited paternal chromosome (65-75%), maternal uniparental disomy (mUPD) (in 20-30%) and Imprinting center (IC) defects, as microdeletions and epimutations (in 1-4%). In this paper, we present two cases diagnosed with PWS from our experience. The importance of diagnosis and familial recurrence risk will be discussed, as well as genotype-phenotype relationships in PWS. Patients with PWS should benefit from multidisciplinary management very early for greatly improving their quality of life, taking into consideration that obesity is a major factor influencing morbidity and mortality. In addition, a better understanding of the molecular basis of PWS pathogenesis offers hope for the development of new, revolutionary, epigenetic therapies in PWS, as well as in other genetic imprinting diseases.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43916078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V. Varlas, R. Bors, Vlad Dima, M. Plotogea, C. Mehedințu
Epilepsy is a common neurological condition in women of childbearing age. Patients with epilepsy should be carefully advised in pre-pregnancy counseling as well as during pregnancy, with particular emphasis on the level of fetal safety of antiepileptic treatment. During pregnancy, there must be an optimization of the therapeutic strategy so that the teratogenic risks of fetal and maternal convulsions are greatly diminished. The role of this review was to present the approach to this pathology in pregnant women and its management for good neonatal and maternal outcomes.
{"title":"Epilepsy in pregnancy: a challenge for good maternal and fetal outcomes","authors":"V. Varlas, R. Bors, Vlad Dima, M. Plotogea, C. Mehedințu","doi":"10.37897/rjp.2022.s2.7","DOIUrl":"https://doi.org/10.37897/rjp.2022.s2.7","url":null,"abstract":"Epilepsy is a common neurological condition in women of childbearing age. Patients with epilepsy should be carefully advised in pre-pregnancy counseling as well as during pregnancy, with particular emphasis on the level of fetal safety of antiepileptic treatment. During pregnancy, there must be an optimization of the therapeutic strategy so that the teratogenic risks of fetal and maternal convulsions are greatly diminished. The role of this review was to present the approach to this pathology in pregnant women and its management for good neonatal and maternal outcomes.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43015657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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