M. Dumitrașcu, Alice Elena Ghenea, Mihaela Popescu, A. Dumitrașcu, M. Carsote, C. Mehedințu, F. Șandru
The term of “incidentaloma” involves multiple disciplines of the medicine, especially on the era of modern medicine with massive progress of investigations tools that increased the epidemiological implications of this entity. “Endocrine incidentaloma” represents a term mostly used for adrenals and pituitary glands (and less used for thyroid where it is replaced by the term of “thyroid nodule”). Adult adrenal incidentaloma (AAI) is expected to be found up to 5-20% of population depending on age group, co-morbidities, radiological/imaging method (the incidence increases with age), and not in children. We aim to overview the spectrum of pediatric AI (PAI) as an umbrella term for various histological and endocrine conditions. This is a brief narrative review of literature. Inclusion criteria are: PubMed published papers, in extenso articles (English language), the year of publication between 2016 and 2021; the selection is based on clinical relevance. A number of 70 references is included. PAI may be related to various tumors of the cortex and medulla, while AAI mostly means an adrenocortical adenoma with a very good prognostic. AAI diagnostic (based not only on radiological, but also an endocrine assessment) exceptionally underlines an adrenocortical carcinoma or evolves to a malignancy while in pediatric population the eventuality of an incidental adrenocortical carcinoma is not so rare (the non-functional pattern is more frequent in children than in adults). Neural crest-derived tumors may be located at adrenal levels; while ganglioneuroma is a benign tumor which typically respects the incidental detection, neuroblastoma is mostly aggressive and the clinical presentation suggestive for a malignancy is more frequent rather than a completely asymptomatic picture. 10-14% of pheochromocytomas are incidentally detected; however, the adrenalectomy is imperative, regardless the phenotype. PAI represents a large multidisciplinary field which is still a matter of debate in certain areas. The key message is the fact that accidental detection of an adrenal mass on an apparently healthy child needs careful examination; serial follow-up is less likely the elective approach (opposite to adult population) since adrenalectomy provides adequate histological report in order to sustain the endocrine and imaging workup.
{"title":"Pediatric adrenal incidentaloma","authors":"M. Dumitrașcu, Alice Elena Ghenea, Mihaela Popescu, A. Dumitrașcu, M. Carsote, C. Mehedințu, F. Șandru","doi":"10.37897/rjp.2021.4.4","DOIUrl":"https://doi.org/10.37897/rjp.2021.4.4","url":null,"abstract":"The term of “incidentaloma” involves multiple disciplines of the medicine, especially on the era of modern medicine with massive progress of investigations tools that increased the epidemiological implications of this entity. “Endocrine incidentaloma” represents a term mostly used for adrenals and pituitary glands (and less used for thyroid where it is replaced by the term of “thyroid nodule”). Adult adrenal incidentaloma (AAI) is expected to be found up to 5-20% of population depending on age group, co-morbidities, radiological/imaging method (the incidence increases with age), and not in children. We aim to overview the spectrum of pediatric AI (PAI) as an umbrella term for various histological and endocrine conditions. This is a brief narrative review of literature. Inclusion criteria are: PubMed published papers, in extenso articles (English language), the year of publication between 2016 and 2021; the selection is based on clinical relevance. A number of 70 references is included. PAI may be related to various tumors of the cortex and medulla, while AAI mostly means an adrenocortical adenoma with a very good prognostic. AAI diagnostic (based not only on radiological, but also an endocrine assessment) exceptionally underlines an adrenocortical carcinoma or evolves to a malignancy while in pediatric population the eventuality of an incidental adrenocortical carcinoma is not so rare (the non-functional pattern is more frequent in children than in adults). Neural crest-derived tumors may be located at adrenal levels; while ganglioneuroma is a benign tumor which typically respects the incidental detection, neuroblastoma is mostly aggressive and the clinical presentation suggestive for a malignancy is more frequent rather than a completely asymptomatic picture. 10-14% of pheochromocytomas are incidentally detected; however, the adrenalectomy is imperative, regardless the phenotype. PAI represents a large multidisciplinary field which is still a matter of debate in certain areas. The key message is the fact that accidental detection of an adrenal mass on an apparently healthy child needs careful examination; serial follow-up is less likely the elective approach (opposite to adult population) since adrenalectomy provides adequate histological report in order to sustain the endocrine and imaging workup.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41784571","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}
D. Toma, Dorottya Miklósi, A. Sglimbea, L. Hadadi, M. Pop, Andreea Cerghit-Paler, Amalia Făgărășan, R. Togănel, L. Gozar
Turner syndrome (TS) is the most common chromosomal abnormality affecting females and cardiac abnormalities have been described in up to 50% of patients. Although coarctation represents one of the most frequent cardiac malformation, treatment options in these patients represent an area of debate, due to associated aortopathy and risk for aortic dissection. In addition to the contradictory data found in the literature, regarding the safety profile and utility of stenting of coarctation of the aorta in TS patients, we present the case of a patient of pediatric age, who successfully underwent the procedure, being free from periprocedural and short-term complications. Beside the presentation itself, we aimed to review and summarize the data available in the literature regarding this topic. As a conclusion, we emphasize the role of minimally invasive interventional therapy and wish to underline the need of further, larger scale studies and guidelines in this patient group. Given the related aortopathy, all preventive measures should be undertaken to avoid aortic dissection during stent implantation in this vulnerable population. Although the evolution of our patient was favorable, data found in the literature is somewhat contradictory and a close follow-up is indicated to help evaluate the risk of long-term complications.
{"title":"Successful percutaneous stenting of coarctation of the aorta in Turner syndrome – a case report and literature review","authors":"D. Toma, Dorottya Miklósi, A. Sglimbea, L. Hadadi, M. Pop, Andreea Cerghit-Paler, Amalia Făgărășan, R. Togănel, L. Gozar","doi":"10.37897/rjp.2021.3.6","DOIUrl":"https://doi.org/10.37897/rjp.2021.3.6","url":null,"abstract":"Turner syndrome (TS) is the most common chromosomal abnormality affecting females and cardiac abnormalities have been described in up to 50% of patients. Although coarctation represents one of the most frequent cardiac malformation, treatment options in these patients represent an area of debate, due to associated aortopathy and risk for aortic dissection. In addition to the contradictory data found in the literature, regarding the safety profile and utility of stenting of coarctation of the aorta in TS patients, we present the case of a patient of pediatric age, who successfully underwent the procedure, being free from periprocedural and short-term complications. Beside the presentation itself, we aimed to review and summarize the data available in the literature regarding this topic. As a conclusion, we emphasize the role of minimally invasive interventional therapy and wish to underline the need of further, larger scale studies and guidelines in this patient group. Given the related aortopathy, all preventive measures should be undertaken to avoid aortic dissection during stent implantation in this vulnerable population. Although the evolution of our patient was favorable, data found in the literature is somewhat contradictory and a close follow-up is indicated to help evaluate the risk of long-term complications.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44821455","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}
Laura Damian, Mihaela Spârchez, Mihaela Lupșe, Ioana Felea, Simona Rednic, Cristina Pamfil, Camelia Bucșa, Romana Vulturar
NOD2 (nucleotide-binding oligomerization domain-2), un receptor de recunoaștere a tiparelor moleculare, este implicat în apărarea imună înnăscută împotriva agenților patogeni, în integritatea mucoasei intestinale, compoziția microbiomului intestinal, autofagie, homeostazia imună și inflamație. Mutațiile NOD2 au fost asociate în primul rând cu boli ale copilului (sindromul Blau și sarcoidoza cu debut precoce, boala Crohn monogenică), dar și cu boli ale adultului (sindromul autoinflamator asociat NOD2 – NAID, denumit și sindrom Yao, etc.). S-au descris și forme intermediare între sindromul Blau și NAID. Sindromul Blau și sarcoidoza cu debut precoce sunt formele familială și, respectiv, sporadică ale unei boli rare autoinflamatorii monogenice, cu transmitere autozomal dominantă. Sindromul Blau debutează în copilăria mică, evoluând cu artrită granulomatoasă fără cazeificare, cu tenosinovită proeminentă, cu o erupție maculo-papulară sau ihtioziformă cu tentă bronzată, uveită și febră intermitentă. Pot să fie prezente și o febră periodică, limfadenopatie generalizată, precum și afectare viscerală granulomatoasă. Terapia constă din corticosteroizi, terapii imunosupresoare „de fond“ și eventual terapii biologice. La adulți, sindromul NAID sau Yao evoluează cu pusee de inflamație sistemică, cu tumefierea membrelor inferioare, tenosinovită și artrită neerozivă, febră și dermatită. Discutăm și diagnosticul diferențial cu alte boli rare granulomatoase. Creșterea informării privind aceste patologii rare autoinflamatorii, care pot să altereze calitatea vieții și să determine dizabilitate, este necesară cu scopul de a le ameliora prognosticul.
{"title":"Sindroame autoinflamatorii granulomatoase asociate cu NOD2 – o scurtă actualizare pentru clinicieni","authors":"Laura Damian, Mihaela Spârchez, Mihaela Lupșe, Ioana Felea, Simona Rednic, Cristina Pamfil, Camelia Bucșa, Romana Vulturar","doi":"10.37897/rjp.2021.3.3","DOIUrl":"https://doi.org/10.37897/rjp.2021.3.3","url":null,"abstract":"NOD2 (nucleotide-binding oligomerization domain-2), un receptor de recunoaștere a tiparelor moleculare, este implicat în apărarea imună înnăscută împotriva agenților patogeni, în integritatea mucoasei intestinale, compoziția microbiomului intestinal, autofagie, homeostazia imună și inflamație. Mutațiile NOD2 au fost asociate în primul rând cu boli ale copilului (sindromul Blau și sarcoidoza cu debut precoce, boala Crohn monogenică), dar și cu boli ale adultului (sindromul autoinflamator asociat NOD2 – NAID, denumit și sindrom Yao, etc.). S-au descris și forme intermediare între sindromul Blau și NAID. Sindromul Blau și sarcoidoza cu debut precoce sunt formele familială și, respectiv, sporadică ale unei boli rare autoinflamatorii monogenice, cu transmitere autozomal dominantă. Sindromul Blau debutează în copilăria mică, evoluând cu artrită granulomatoasă fără cazeificare, cu tenosinovită proeminentă, cu o erupție maculo-papulară sau ihtioziformă cu tentă bronzată, uveită și febră intermitentă. Pot să fie prezente și o febră periodică, limfadenopatie generalizată, precum și afectare viscerală granulomatoasă. Terapia constă din corticosteroizi, terapii imunosupresoare „de fond“ și eventual terapii biologice. La adulți, sindromul NAID sau Yao evoluează cu pusee de inflamație sistemică, cu tumefierea membrelor inferioare, tenosinovită și artrită neerozivă, febră și dermatită. Discutăm și diagnosticul diferențial cu alte boli rare granulomatoase. Creșterea informării privind aceste patologii rare autoinflamatorii, care pot să altereze calitatea vieții și să determine dizabilitate, este necesară cu scopul de a le ameliora prognosticul.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44198533","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}
B. Mihai, R. Bohîlțea, Vlad Dima, A. Veduta, T. Salmen, T. Georgescu, M. Vlădăreanu, V. Varlas
Sacrococcygeal teratomas complicate approximatively 1 in 27,000 pregnancies, being the most common congenital germ cell tumors in infants. The diagnosis is suspected using ultrasonographic examination and confirmed after a pathology report is performed. The main issue complicating fetuses with sacrococcygeal teratomas is represented by the rapid growth and the great need of blood supply captured by the tumor that interferes with the fetal growth and fetal wellbeing, generating heart failure and, unfortunately, increasing neonatal mortality. Thus, ultrasonographic monitoring is fundamental, to diagnose, closely monitor the growth and vascularization of the tumor and to ameliorate the neonatal prognosis by establishing the proper time of birth. There are specialized healthcare centers that could perform in utero surgery with the aim to aid the normal growth and development of the fetus until term, when a curative surgery is performed to the newborn. In cases complicated with heart failure leading to fetal hydrops, pregnancy termination could be a valuable option for the mothers, as soon as the etiology and the stage of heart decompensation are known. We present a case of a fetal sacrococcygeal teratoma in a 36-year-old pregnant woman, an uninvestigated pregnancy that had a dreadful outcome with neonatal death.
{"title":"Update in the prenatal management of sacrococcygeal teratomas and the outcome of the newborn – case report","authors":"B. Mihai, R. Bohîlțea, Vlad Dima, A. Veduta, T. Salmen, T. Georgescu, M. Vlădăreanu, V. Varlas","doi":"10.37897/rjp.2021.3.5","DOIUrl":"https://doi.org/10.37897/rjp.2021.3.5","url":null,"abstract":"Sacrococcygeal teratomas complicate approximatively 1 in 27,000 pregnancies, being the most common congenital germ cell tumors in infants. The diagnosis is suspected using ultrasonographic examination and confirmed after a pathology report is performed. The main issue complicating fetuses with sacrococcygeal teratomas is represented by the rapid growth and the great need of blood supply captured by the tumor that interferes with the fetal growth and fetal wellbeing, generating heart failure and, unfortunately, increasing neonatal mortality. Thus, ultrasonographic monitoring is fundamental, to diagnose, closely monitor the growth and vascularization of the tumor and to ameliorate the neonatal prognosis by establishing the proper time of birth. There are specialized healthcare centers that could perform in utero surgery with the aim to aid the normal growth and development of the fetus until term, when a curative surgery is performed to the newborn. In cases complicated with heart failure leading to fetal hydrops, pregnancy termination could be a valuable option for the mothers, as soon as the etiology and the stage of heart decompensation are known. We present a case of a fetal sacrococcygeal teratoma in a 36-year-old pregnant woman, an uninvestigated pregnancy that had a dreadful outcome with neonatal death.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43311257","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}
S. Pintilie, A. Fodor, M. Bembea, C. Petcheși, Simona Grad, L. Damian, R. Vulturar
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidinoacetate and genetic tests are used for diagnosis. Electromyography may be normal or may have a myopathic pattern with low amplitude polyphasic waves. Muscle biopsy may show abnormalities including small myocytes. Creatine supplementation can fully prevent the neurological disability, if the treatment is started early in life; the muscular function improves irrespective of the supplementation moment.
{"title":"A rare but treatable inborn error of metabolism: Arginine glycine amidinotransferase (AGAT) deficiency","authors":"S. Pintilie, A. Fodor, M. Bembea, C. Petcheși, Simona Grad, L. Damian, R. Vulturar","doi":"10.37897/rjp.2021.3.4","DOIUrl":"https://doi.org/10.37897/rjp.2021.3.4","url":null,"abstract":"AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidinoacetate and genetic tests are used for diagnosis. Electromyography may be normal or may have a myopathic pattern with low amplitude polyphasic waves. Muscle biopsy may show abnormalities including small myocytes. Creatine supplementation can fully prevent the neurological disability, if the treatment is started early in life; the muscular function improves irrespective of the supplementation moment.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41714795","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}
During childhood, 3 levels of stress were proposed: positive, tolerable and toxic. The toxic stress produced by the strong, frequent and prolonged activation of the body’s response systems is a generator of behavioral and somatic sequelae. Child abuse is present in all social media in different countries. The absence of basic care has devastating effects on social and cognitive development, as found in institutionalized children. Attachment behavior and fear memory are considered stress-related biological systems. The response to stress is driven by the dynamics of cortisol secretion and its interaction with its cellular receptor. It plays a central role in the response to aggression through the process of methylation, decreased gene expression in the hippocampus and increased response to stress. Stress treatment is variable in efficiency and involves preventive measures (family and community), at school, bullying, psychological counseling, trauma-focused psychotherapy, cognitive therapy, through music.
{"title":"STRESS IN CHILDREN PATHOLOGY: FROM PSYCHOSOMATICS TO MOLECULAR BIOLOGY","authors":"S. Buzinschi","doi":"10.37897/rjp.2021.2.1","DOIUrl":"https://doi.org/10.37897/rjp.2021.2.1","url":null,"abstract":"During childhood, 3 levels of stress were proposed: positive, tolerable and toxic. The toxic stress produced by the strong, frequent and prolonged activation of the body’s response systems is a generator of behavioral and somatic sequelae. Child abuse is present in all social media in different countries. The absence of basic care has devastating effects on social and cognitive development, as found in institutionalized children. Attachment behavior and fear memory are considered stress-related biological systems. The response to stress is driven by the dynamics of cortisol secretion and its interaction with its cellular receptor. It plays a central role in the response to aggression through the process of methylation, decreased gene expression in the hippocampus and increased response to stress. Stress treatment is variable in efficiency and involves preventive measures (family and community), at school, bullying, psychological counseling, trauma-focused psychotherapy, cognitive therapy, through music.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46951229","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}
L. Ion, D. Boda, Mădălina-Otilia Purice, Irina-Elena Caracaș, S. Tudorache, M. Manta, A. Pavel, Roxana Andrei, Damaris Bozai, Raluca Gheorghiță, A. Popescu
We present a case of a 3 years and 8 months old female child with a generalized maculoerythematous rash associated with positive serologies for Epstein Barr virus, Echovirus and Coxsackie that raise suspicion of GianottiCrosti syndrome. The extremely low prevalence of this syndrome and the very long duration of the disease are highlighted, the rash can persist for up to 4 months. We discuss this case both in order to make health professionals aware of the existence of this rare condition, which should be considered in the differential diagnosis of a viral rash, and to educate the community (school, kindergarten) that tends to isolate affected children during persistence of the rash, which is considered contagious.
{"title":"GIANOTTI-CROSTI SYNDROME","authors":"L. Ion, D. Boda, Mădălina-Otilia Purice, Irina-Elena Caracaș, S. Tudorache, M. Manta, A. Pavel, Roxana Andrei, Damaris Bozai, Raluca Gheorghiță, A. Popescu","doi":"10.37897/rjp.2021.2.11","DOIUrl":"https://doi.org/10.37897/rjp.2021.2.11","url":null,"abstract":"We present a case of a 3 years and 8 months old female child with a generalized maculoerythematous rash associated with positive serologies for Epstein Barr virus, Echovirus and Coxsackie that raise suspicion of GianottiCrosti syndrome. The extremely low prevalence of this syndrome and the very long duration of the disease are highlighted, the rash can persist for up to 4 months. We discuss this case both in order to make health professionals aware of the existence of this rare condition, which should be considered in the differential diagnosis of a viral rash, and to educate the community (school, kindergarten) that tends to isolate affected children during persistence of the rash, which is considered contagious.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43307992","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}
C. Petcheși, G. Ciavoi, F. Feier, O. Iuhas, K. Kozma, Claudia Jurca, M. Bembea
Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.
{"title":"DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS","authors":"C. Petcheși, G. Ciavoi, F. Feier, O. Iuhas, K. Kozma, Claudia Jurca, M. Bembea","doi":"10.37897/rjp.2021.2.8","DOIUrl":"https://doi.org/10.37897/rjp.2021.2.8","url":null,"abstract":"Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44027023","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}
Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy. Globally, SMA is, after cystic fibrosis, the second cause of death due to a a genetic disease in the pediatric population. Over 95% of the total cases of SMA are represented by 5q SMA, caused by biallelic mutations in the SMN1 gene (5q13.2), the rest of the SMA types being called, generically, non-5q SMA. Currently, a few genetic targeted therapies are available for 5q SMA, while other innovative therapies are still in clinical trials. Early diagnosis and treatment of 5q SMA have an essential role in preventing the onset and evolution of symptoms and can save the life of the patient and prevent debilitating sequelae. This article aims to briefly describe the cause and symptomatology of 5q SMA as well as to make a short review of the genetic therapies available for this disease.
{"title":"INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY","authors":"Elena-Silvia Shelby, A. Mirea","doi":"10.37897/rjp.2021.2.4","DOIUrl":"https://doi.org/10.37897/rjp.2021.2.4","url":null,"abstract":"Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy. Globally, SMA is, after cystic fibrosis, the second cause of death due to a a genetic disease in the pediatric population. Over 95% of the total cases of SMA are represented by 5q SMA, caused by biallelic mutations in the SMN1 gene (5q13.2), the rest of the SMA types being called, generically, non-5q SMA. Currently, a few genetic targeted therapies are available for 5q SMA, while other innovative therapies are still in clinical trials. Early diagnosis and treatment of 5q SMA have an essential role in preventing the onset and evolution of symptoms and can save the life of the patient and prevent debilitating sequelae. This article aims to briefly describe the cause and symptomatology of 5q SMA as well as to make a short review of the genetic therapies available for this disease.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47149722","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}
Entrepreneurship and medicine are in continuous growth alongside, and even if they appear to be completely different fields, entrepreneurship in medicine is becoming of remarkable interest, further highlighted by the COVID-19 pandemic. A main reason for this is its ability to use digital technologies, which are meant to improve healthcare. Applying digitalization in healthcare includes not only computer and database use (cloud computing, big data), but more complex methods such as robotics, automation, internet of things, artificial intelligence and, not lastly, collaboration platforms. Some shortcomings in respect to digitalization can be identified in the Romanian healthcare system and these may impact public health. Digitalization may contribute fundamentally to the improvement of public health by increasing performance. However, in the context of the COVID-19 pandemic, other ailments that burden the healthcare system should not be neglected (cardiovascular diseases, malignancies, etc.).
{"title":"SOME CHARACTERISTICS OF ENTREPRENEURSHIP IN MEDICINE. THE DIGITALIZATION OF THE MEDICAL SYSTEM IN ROMANIA","authors":"Irina Dijmărescu, B. Pharmacy","doi":"10.37897/rjp.2021.2.2","DOIUrl":"https://doi.org/10.37897/rjp.2021.2.2","url":null,"abstract":"Entrepreneurship and medicine are in continuous growth alongside, and even if they appear to be completely different fields, entrepreneurship in medicine is becoming of remarkable interest, further highlighted by the COVID-19 pandemic. A main reason for this is its ability to use digital technologies, which are meant to improve healthcare. Applying digitalization in healthcare includes not only computer and database use (cloud computing, big data), but more complex methods such as robotics, automation, internet of things, artificial intelligence and, not lastly, collaboration platforms. Some shortcomings in respect to digitalization can be identified in the Romanian healthcare system and these may impact public health. Digitalization may contribute fundamentally to the improvement of public health by increasing performance. However, in the context of the COVID-19 pandemic, other ailments that burden the healthcare system should not be neglected (cardiovascular diseases, malignancies, etc.).","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49426207","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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