Pub Date : 2020-08-07DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.18356
P. Pereira, B. Aguiar, Duarte Dantas, I. Vaz
Palsy of the eleventh cranial nerve – or spinal accessory nerve (SAN) − is a rare cause of scapular winging, leading to painful upper extremity disability due to weakness and atrophy of the trapezius muscle. Most SAN injuries are iatrogenic, and no specific pediatric epidemiology is known.Herein is described the case of a 17-year-old adolescent referred to Physical and Rehabilitation Medicine consultation due to insidious right shoulder pain with two years of evolution.Shoulder pain combined with muscular atrophy is suggestive of nerve lesion. Electromyography is the gold standard exam and showed segmental demyelination and axonotmesis in this case. After evaluation, the patient underwent physiotherapy, with excellent results.In conclusion, SAN injury treatment can be conservative or surgical and physiotherapy is the basis of early treatment in most cases. Recovery can occur even after a significant period of time.
{"title":"Idiopathic spinal accessory nerve injury","authors":"P. Pereira, B. Aguiar, Duarte Dantas, I. Vaz","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.18356","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.18356","url":null,"abstract":"Palsy of the eleventh cranial nerve – or spinal accessory nerve (SAN) − is a rare cause of scapular winging, leading to painful upper extremity disability due to weakness and atrophy of the trapezius muscle. Most SAN injuries are iatrogenic, and no specific pediatric epidemiology is known.Herein is described the case of a 17-year-old adolescent referred to Physical and Rehabilitation Medicine consultation due to insidious right shoulder pain with two years of evolution.Shoulder pain combined with muscular atrophy is suggestive of nerve lesion. Electromyography is the gold standard exam and showed segmental demyelination and axonotmesis in this case. After evaluation, the patient underwent physiotherapy, with excellent results.In conclusion, SAN injury treatment can be conservative or surgical and physiotherapy is the basis of early treatment in most cases. Recovery can occur even after a significant period of time.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"330 1","pages":"157-159"},"PeriodicalIF":0.0,"publicationDate":"2020-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76570438","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}
Pub Date : 2020-08-07DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.16655
M. Serrado, A. L. Proença, P. Alves
Myeloid sarcoma is a rare tumor of immature myeloid cells in an extramedullary site which can be found in any part of the body. It may precede or concurrently occur with acute myeloid leukemia, chronic myeloid leukemia, or myeloproliferative disorders/myelodysplastic syndrome.Herein is reported the rare case of a child with myeloid sarcoma in the right tibia, without leukemic involvement at diagnosis. Diagnosis was challenging and several imaging modalities (radiography, computed tomography, magnetic resonance, bone scintigraphy, positron emitted tomography–computed tomography) were required. Additionally, three biopsies were necessary to make a definitive and conclusive diagnosis.With this case report, the authors intend to emphasize the need of considering myeloid sarcoma in the differential diagnosis of lytic bone lesions in children and highlight the high degree of clinical suspicion required when there is no leukemia evidence.
{"title":"Isolated myeloid sarcoma of the tibia","authors":"M. Serrado, A. L. Proença, P. Alves","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.16655","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.16655","url":null,"abstract":"Myeloid sarcoma is a rare tumor of immature myeloid cells in an extramedullary site which can be found in any part of the body. It may precede or concurrently occur with acute myeloid leukemia, chronic myeloid leukemia, or myeloproliferative disorders/myelodysplastic syndrome.Herein is reported the rare case of a child with myeloid sarcoma in the right tibia, without leukemic involvement at diagnosis. Diagnosis was challenging and several imaging modalities (radiography, computed tomography, magnetic resonance, bone scintigraphy, positron emitted tomography–computed tomography) were required. Additionally, three biopsies were necessary to make a definitive and conclusive diagnosis.With this case report, the authors intend to emphasize the need of considering myeloid sarcoma in the differential diagnosis of lytic bone lesions in children and highlight the high degree of clinical suspicion required when there is no leukemia evidence.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"1 1","pages":"153-159"},"PeriodicalIF":0.0,"publicationDate":"2020-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85532681","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}
Pub Date : 2020-08-07DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.14261
Mariana Capela, J. Reis, D. Soares, Andreia Ribeiro, I. Pais, Lúcia Rodrigues
Juvenile dermatomyositis is an autoimmune systemic vasculopathy, mainly characterized by chronic inflammation of the striated muscle and skin. The authors report the case of a 15-year-old boy presenting with a four-month history of myalgia and proximal muscle weakness on the upper and lower limbs. These symptoms were associated with heliotrope palpebral exanthema, erythema in the dorsum of the hands, Gottron’s papules, erythematous and petechial rash on the extensor face of the thighs, and mild dysphagia for solids. Blood tests revealed an increase in muscle enzymes and electromyography showed changes suggestive of severe acute myopathy. Intravenous methylprednisolone was initiated, followed by a combination regimen of prednisolone and methotrexate. Progressive dysphagia, cutaneous abnormality, and muscular strength improvement were noted. With this case, the authors intend to raise awareness of a rare disease with an essentially clinical diagnosis, presenting in most cases with characteristic manifestations that should be recognised.
{"title":"Juvenile dermatomyositis: common manifestations of a rare disease","authors":"Mariana Capela, J. Reis, D. Soares, Andreia Ribeiro, I. Pais, Lúcia Rodrigues","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.14261","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.14261","url":null,"abstract":"Juvenile dermatomyositis is an autoimmune systemic vasculopathy, mainly characterized by chronic inflammation of the striated muscle and skin. The authors report the case of a 15-year-old boy presenting with a four-month history of myalgia and proximal muscle weakness on the upper and lower limbs. These symptoms were associated with heliotrope palpebral exanthema, erythema in the dorsum of the hands, Gottron’s papules, erythematous and petechial rash on the extensor face of the thighs, and mild dysphagia for solids. Blood tests revealed an increase in muscle enzymes and electromyography showed changes suggestive of severe acute myopathy. Intravenous methylprednisolone was initiated, followed by a combination regimen of prednisolone and methotrexate. Progressive dysphagia, cutaneous abnormality, and muscular strength improvement were noted. With this case, the authors intend to raise awareness of a rare disease with an essentially clinical diagnosis, presenting in most cases with characteristic manifestations that should be recognised.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"7 1","pages":"149-152"},"PeriodicalIF":0.0,"publicationDate":"2020-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84123620","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}
Pub Date : 2020-08-07DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.19083
Ana Lia Gonçalo, Rui Almeida, M. Pereira
Case report: The authors present the case of a 15-year-old adolescent boy with occipital spur noticed since the previous year and with progressive enlargement. No history of trauma or other associated symptoms was evident. Physical examination showed a hard tumefaction with no inflammatory signs and x-ray revealed occipital hyperostosis. The boy spent most free time playing with mobile gadgets, with poor body posture.Discussion/Conclusion: Although considered a normal feature, occipital spur in adolescents and young adults may be linked to poor posture, for instance associated with prolonged use of handheld technology. Exaggerated technology use may be associated with several complaints and musculoskeletal symptoms should not be neglected.
{"title":"Imaging clinical case","authors":"Ana Lia Gonçalo, Rui Almeida, M. Pereira","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.19083","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.19083","url":null,"abstract":"Case report: The authors present the case of a 15-year-old adolescent boy with occipital spur noticed since the previous year and with progressive enlargement. No history of trauma or other associated symptoms was evident. Physical examination showed a hard tumefaction with no inflammatory signs and x-ray revealed occipital hyperostosis. The boy spent most free time playing with mobile gadgets, with poor body posture.Discussion/Conclusion: Although considered a normal feature, occipital spur in adolescents and young adults may be linked to poor posture, for instance associated with prolonged use of handheld technology. Exaggerated technology use may be associated with several complaints and musculoskeletal symptoms should not be neglected.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"4 1","pages":"162-164"},"PeriodicalIF":0.0,"publicationDate":"2020-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81624706","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}
Pub Date : 2020-08-06DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.18244
S. Vasconcelos, S. Cunha, Alícia Rebelo, C. Ferreira, Carla Meireles, Ângela Dias
Introduction: Type 1 diabetes mellitus is one of the most common endocrine-metabolic disorders of childhood and adolescence and requires a continuous and rigorous therapeutic approach, with recognized impact on children and adolescents’ quality of life.The purpose of this study was to evaluate the quality of life of adolescents with type 1 diabetes mellitus and its relationship with clinical and laboratory aspects and lifestyle.Material and Methods: DQOL questionnaire was applied to type 1 diabetes mellitus adolescents managed at the Pediatric Diabetology consultation of a level II hospital for more than one year. Questionnaire has a global score between 36 and 180, with higher scores reflecting worse quality of life. Statistical analysis was performed in SPSS®.Results: Seventy-one percent (n=36) of adolescents responded to the survey, 55.6% of which male, with a median age of 15 years. Median DQOL global score was 66. Adolescents with good metabolic control had a median global score of 49, compared with 71 in adolescents with poor metabolic control (p=0.007). The median global score of self-perception of better health was 51 compared to 73 for self-perception of poorer health (p=0.007).Discussion: In general, adolescents in this study revealed a satisfactory quality of life. Adolescents with better metabolic control have a higher satisfaction and better quality of life. Adolescents with better self-perceived health have a better quality of life.Conclusion: Recognizing factors that affect quality of life of adolescents with type 1 diabetes mellitus is crucial to devise therapeutic strategies that meet their expectations, promoting treatment adherence and better metabolic control.
{"title":"Quality of life of adolescents with type 1 diabetes mellitus","authors":"S. Vasconcelos, S. Cunha, Alícia Rebelo, C. Ferreira, Carla Meireles, Ângela Dias","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.18244","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.18244","url":null,"abstract":"Introduction: Type 1 diabetes mellitus is one of the most common endocrine-metabolic disorders of childhood and adolescence and requires a continuous and rigorous therapeutic approach, with recognized impact on children and adolescents’ quality of life.The purpose of this study was to evaluate the quality of life of adolescents with type 1 diabetes mellitus and its relationship with clinical and laboratory aspects and lifestyle.Material and Methods: DQOL questionnaire was applied to type 1 diabetes mellitus adolescents managed at the Pediatric Diabetology consultation of a level II hospital for more than one year. Questionnaire has a global score between 36 and 180, with higher scores reflecting worse quality of life. Statistical analysis was performed in SPSS®.Results: Seventy-one percent (n=36) of adolescents responded to the survey, 55.6% of which male, with a median age of 15 years. Median DQOL global score was 66. Adolescents with good metabolic control had a median global score of 49, compared with 71 in adolescents with poor metabolic control (p=0.007). The median global score of self-perception of better health was 51 compared to 73 for self-perception of poorer health (p=0.007).Discussion: In general, adolescents in this study revealed a satisfactory quality of life. Adolescents with better metabolic control have a higher satisfaction and better quality of life. Adolescents with better self-perceived health have a better quality of life.Conclusion: Recognizing factors that affect quality of life of adolescents with type 1 diabetes mellitus is crucial to devise therapeutic strategies that meet their expectations, promoting treatment adherence and better metabolic control.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"144 1","pages":"128-134"},"PeriodicalIF":0.0,"publicationDate":"2020-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90919511","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}
Pub Date : 2020-08-06DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.17113
T. Ferreira, S. Dehanov, C. Oliveira, S. Castro, R. Ribeiro, T. Maia
Introduction: Psychopathological symptoms are common during pregnancy and their detection and referral to specialized care is often suboptimal. The aim of this study was to perform a descriptive analysis of sociodemographic, mental health, and obstetric features of a population of pregnant women followed at Psychiatry consultation.Methodology: This was a cross-sectional, descriptive study of women followed both at Gynecology/Obstetrics and Psychiatry consultations of Hospital Prof. Doutor Fernando Fonseca between 2014 and 2016. A total of 76 women were included, for whom pre-defined features associated in the literature with risk of developing psychopathological symptoms during pregnancy were collected.Results and Discussion: Risk factors identified in the development of depressive symptoms included absence of an affective relationship during pregnancy (n=11; 14.5%), being first-generation immigrant (n=17; 22.4%), and substance use before (n=18; 23.7%) or during (n=10; 13.1%) pregnancy. Sample was divided into women with previous Psychiatry follow-up who became pregnant (n=44; 57.9%) and women referred to Psychiatry consultation during pregnancy (n=32; 42.1%). In the second group, 18.8% (n=6) of referrals were from primary health care, being relevant to understand whether this represents an under-referral. Prescription of 21 risk category D drugs was identified, alerting to the need of caution in pharmacological prescription and of considering non-pharmacological options (e.g., cognitive-behavioral therapy) for management of these cases.Conclusions: Risk factors identified in this study represent an opportunity to optimize clinical practice and improve these patients’ follow-up.
引言：心理病理学症状在怀孕期间很常见，检测和转诊到专业护理往往不理想。本研究的目的是对在精神病学咨询中随访的孕妇群体的社会人口学、心理健康和产科特征进行描述性分析。方法：这是一项针对2014年至2016年间在医院教授Doutor Fernando Fonseca的妇科/产科和精神病学咨询中随访的女性的横断面描述性研究。共纳入76名女性，收集了文献中与妊娠期出现精神病理学症状风险相关的预定义特征。结果和讨论：抑郁症状发展的风险因素包括怀孕期间缺乏情感关系（n=11；14.5%）、第一代移民（n=17；22.4%）以及怀孕前（n=18；23.7%）或怀孕期间（n=10；13.1%）的药物使用。样本被分为之前接受过精神病学随访的怀孕女性（n=44；57.9%）和在怀孕期间接受过精神病学咨询的女性（n=32；42.1%）。在第二组中，18.8%（n=6）的转诊来自初级卫生保健，这与了解这是否代表转诊不足有关。确定了21种D类风险药物的处方，提醒人们在药物处方中需要谨慎，并考虑非药物选择（如认知行为疗法）来管理这些病例。结论：本研究中确定的危险因素为优化临床实践和改善这些患者的随访提供了机会。
{"title":"CHARACTERIZATION OF THE POPULATION OF PREGNANT WOMEN ATTENDING A MENTAL HEALTH SERVICE","authors":"T. Ferreira, S. Dehanov, C. Oliveira, S. Castro, R. Ribeiro, T. Maia","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.17113","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.17113","url":null,"abstract":"Introduction: Psychopathological symptoms are common during pregnancy and their detection and referral to specialized care is often suboptimal. The aim of this study was to perform a descriptive analysis of sociodemographic, mental health, and obstetric features of a population of pregnant women followed at Psychiatry consultation.Methodology: This was a cross-sectional, descriptive study of women followed both at Gynecology/Obstetrics and Psychiatry consultations of Hospital Prof. Doutor Fernando Fonseca between 2014 and 2016. A total of 76 women were included, for whom pre-defined features associated in the literature with risk of developing psychopathological symptoms during pregnancy were collected.Results and Discussion: Risk factors identified in the development of depressive symptoms included absence of an affective relationship during pregnancy (n=11; 14.5%), being first-generation immigrant (n=17; 22.4%), and substance use before (n=18; 23.7%) or during (n=10; 13.1%) pregnancy. Sample was divided into women with previous Psychiatry follow-up who became pregnant (n=44; 57.9%) and women referred to Psychiatry consultation during pregnancy (n=32; 42.1%). In the second group, 18.8% (n=6) of referrals were from primary health care, being relevant to understand whether this represents an under-referral. Prescription of 21 risk category D drugs was identified, alerting to the need of caution in pharmacological prescription and of considering non-pharmacological options (e.g., cognitive-behavioral therapy) for management of these cases.Conclusions: Risk factors identified in this study represent an opportunity to optimize clinical practice and improve these patients’ follow-up.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48410090","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}
Pub Date : 2020-08-06DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.15286
S. Cunha, S. Leite, S. Vasconcelos, Carla Meireles, Luís Gonzaga, T. Simão
Introduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit later normal ovarian function.Case report: A 13-year-old female adolescent was referred to the Emergency Department for vomiting, left low back pain, and diffuse abdominal pain with irradiation to the hypogastric area, associated with urinary symptoms. Abdomen was tender in the right iliac fossa and hypogastric area. Analytical study revealed increased inflammatory parameters, urinary test strip was negative, and pelvic computed tomography showed a cystic lesion of ovarian origin. Due to suspicion of cyst torsion, laparoscopic surgery was performed, revealing a necrotic adnexal torsion requiring adnexectomy. Discussion: Although often suspected, adnexal torsion is rarely confirmed. Although ovarian torsion accounts for a small number of all gynecological emergencies, it represents a common diagnostic challenge in the emergency setting. Conclusion: As ovary viability depends on early diagnosis, a high index of suspicion is required. This clinical case raises awareness of this entity in the differential diagnosis of lower abdominal pain in female children and adolescents.
{"title":"Acute abdominal pain in a 13-year-old female adolescent","authors":"S. Cunha, S. Leite, S. Vasconcelos, Carla Meireles, Luís Gonzaga, T. Simão","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.15286","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.15286","url":null,"abstract":"Introduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit later normal ovarian function.Case report: A 13-year-old female adolescent was referred to the Emergency Department for vomiting, left low back pain, and diffuse abdominal pain with irradiation to the hypogastric area, associated with urinary symptoms. Abdomen was tender in the right iliac fossa and hypogastric area. Analytical study revealed increased inflammatory parameters, urinary test strip was negative, and pelvic computed tomography showed a cystic lesion of ovarian origin. Due to suspicion of cyst torsion, laparoscopic surgery was performed, revealing a necrotic adnexal torsion requiring adnexectomy. Discussion: Although often suspected, adnexal torsion is rarely confirmed. Although ovarian torsion accounts for a small number of all gynecological emergencies, it represents a common diagnostic challenge in the emergency setting. Conclusion: As ovary viability depends on early diagnosis, a high index of suspicion is required. This clinical case raises awareness of this entity in the differential diagnosis of lower abdominal pain in female children and adolescents.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"os-8 1","pages":"142-144"},"PeriodicalIF":0.0,"publicationDate":"2020-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87656514","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}
Pub Date : 2020-08-04DOI: 10.25753/BIRTHGROWTHMJ.V29.I3.20653
E. Martins
Inherited metabolic disorders (IMD) constitue a vast and complex group of pathologies increasingly relevant in the 21st century.1 The term “inborn error of metabolism” (IEM) was first enunciated in 1908 by Sir Archibald Garrod in reference to four diseases: alkaptonuria, pentosuria, cystinuria, and albinism. The first book on this subject was published in 1960 and included 80 diseases, but more than 1000 diseases are currently described, with ongoing discoveries.2,3 Indeed, IMDs are at the forefront of medical progress, with new methods on metabolomics and genomics identifying the molecular basis of an increasing number of previously unknown pathological conditions and syndromes. Metabolomics is the culmination of a century of biochemical diagnoses as the fundamental basis of IEM approach. Biochemical profiling allows laboratory assessment of the chemical fingerprint of multiple metabolites and their metabolic pathways in body tissues and fluids, usually with small samples and high speed. Although this technology is not yet ready to replace the classic biochemical diagnostic methods, it is highly likely that its influence will increase as we move forward in this century. Genomics, or clinical exome sequencing, the cornerstone of genetic diagnosis and standard of care for unexplained genetic or metabolic changes, will be replaced in the future by clinical genome sequencing resulting from evolution of algorithms underlying bioinformatic analysis and use of artificial intelligence for diagnostic purposes.3,4 The approach provided by these new tools allows for diagnoses not previously suspected and for acknowledging new classes of metabolic defects (e.g. defects in synthesis and remodeling of complex lipids, including phospholipids, sphingolipids, and complex fatty acids) and widening of their clinical phenotypic spectrum.3 Along with this enormous multidisciplinary diagnostic capacity, these emerging technologies enable to link clinical, biochemical, and molecular characteristics of metabolic diseases and provide a basis for therapeutic intervention. In the therapeutic field, classic approaches aiming to reduce toxic metabolites, include dietary restrictions, establish alternative ways to promote elimination of potentially toxic metabolites (eg. medications and dialysis in diseases of the urea cycle or organic acidurias), and use substrate reduction therapies (e.g. eliglustat and miglustat for Gaucher disease) are being monitored and/or replaced by treatment options designed to more directly correct the underlying metabolic defect. This last group includes replacement therapy with recombinant enzymes, use of coenzymes and chaperons as modifiers, and cell/organ-transplantation. Other promising treatments include therapeutic mRNA and gene therapy using viral vector systems or gene editing. Many of these new therapies are currently in clinical trial phase, with evidence regarding diagnosis still largely outpacing evidence regarding new therapies.3-5 Ea
{"title":"Inherited metabolic disorders: a century of evolution","authors":"E. Martins","doi":"10.25753/BIRTHGROWTHMJ.V29.I3.20653","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I3.20653","url":null,"abstract":"Inherited metabolic disorders (IMD) constitue a vast and complex group of pathologies increasingly relevant in the 21st century.1 The term “inborn error of metabolism” (IEM) was first enunciated in 1908 by Sir Archibald Garrod in reference to four diseases: alkaptonuria, pentosuria, cystinuria, and albinism. The first book on this subject was published in 1960 and included 80 diseases, but more than 1000 diseases are currently described, with ongoing discoveries.2,3 Indeed, IMDs are at the forefront of medical progress, with new methods on metabolomics and genomics identifying the molecular basis of an increasing number of previously unknown pathological conditions and syndromes. Metabolomics is the culmination of a century of biochemical diagnoses as the fundamental basis of IEM approach. Biochemical profiling allows laboratory assessment of the chemical fingerprint of multiple metabolites and their metabolic pathways in body tissues and fluids, usually with small samples and high speed. Although this technology is not yet ready to replace the classic biochemical diagnostic methods, it is highly likely that its influence will increase as we move forward in this century. Genomics, or clinical exome sequencing, the cornerstone of genetic diagnosis and standard of care for unexplained genetic or metabolic changes, will be replaced in the future by clinical genome sequencing resulting from evolution of algorithms underlying bioinformatic analysis and use of artificial intelligence for diagnostic purposes.3,4 The approach provided by these new tools allows for diagnoses not previously suspected and for acknowledging new classes of metabolic defects (e.g. defects in synthesis and remodeling of complex lipids, including phospholipids, sphingolipids, and complex fatty acids) and widening of their clinical phenotypic spectrum.3 Along with this enormous multidisciplinary diagnostic capacity, these emerging technologies enable to link clinical, biochemical, and molecular characteristics of metabolic diseases and provide a basis for therapeutic intervention. In the therapeutic field, classic approaches aiming to reduce toxic metabolites, include dietary restrictions, establish alternative ways to promote elimination of potentially toxic metabolites (eg. medications and dialysis in diseases of the urea cycle or organic acidurias), and use substrate reduction therapies (e.g. eliglustat and miglustat for Gaucher disease) are being monitored and/or replaced by treatment options designed to more directly correct the underlying metabolic defect. This last group includes replacement therapy with recombinant enzymes, use of coenzymes and chaperons as modifiers, and cell/organ-transplantation. Other promising treatments include therapeutic mRNA and gene therapy using viral vector systems or gene editing. Many of these new therapies are currently in clinical trial phase, with evidence regarding diagnosis still largely outpacing evidence regarding new therapies.3-5 Ea","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"7 1","pages":"126-127"},"PeriodicalIF":0.0,"publicationDate":"2020-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78439797","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}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I2.15091
Margarida Silva Fonseca, H. Santos, R. Guedes, H. Tavares
In adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.
{"title":"Perturbação do comportamento alimentar - Um diagnóstico de exclusão","authors":"Margarida Silva Fonseca, H. Santos, R. Guedes, H. Tavares","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.15091","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15091","url":null,"abstract":"In adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"113-116"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42320194","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}
Pub Date : 2020-06-26DOI: 10.25753/BIRTHGROWTHMJ.V29.I1.18631
Ana Vera Costa, Sandra Mendes, A. S. Pires, S. Melo, S. Borges, Joana Jorge, Graça Mendes
Introduction: Children/adolescents mourning the death of a primary caregiver face several challenges, including bond breaking and family restructuring due to loss. The negative connotation associated with suicide loss is enhanced by stigma, increasing acceptance difficulties and feelings of isolation, abandonment, shame, and guilt in face of what happened.Objective: The aim of this study was to retrieve data on childhood bereavement due to primary caregiver suicide and explore psychopathological and psycho-affective developmental consequences of this type of grief.Methods: Literature review of articles published on PubMed database about the subject.Results and Discussion: Bereavement of a suicidal parent is associated with multiple psychopathological conditions: mood disorders, post-traumatic stress disorder, substance abuse, self-injurious behavior, suicidal behavior. Suicide and depressive disorder risk is higher when parental death occurred early in life course, with maternal suicide having greater impact. Antidepressants are more commonly used in cases of early parental death from suicide and are associated with increased hospitalizations for Major Depression and Bipolar Affective Disorder in adulthood. Consequences of parental death by suicide may be explained by several factors, as genetics, biological reactions, psychological factors originated from loss of an attachment figure, or social and environmental changes.Conclusions: Parental suicide can be impactful for children’s developmental trajectory and later functioning level. The authors alert to the need for prevention and early intervention strategies associated with this process.
{"title":"Growing in the shadows of suicide","authors":"Ana Vera Costa, Sandra Mendes, A. S. Pires, S. Melo, S. Borges, Joana Jorge, Graça Mendes","doi":"10.25753/BIRTHGROWTHMJ.V29.I1.18631","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I1.18631","url":null,"abstract":"Introduction: Children/adolescents mourning the death of a primary caregiver face several challenges, including bond breaking and family restructuring due to loss. The negative connotation associated with suicide loss is enhanced by stigma, increasing acceptance difficulties and feelings of isolation, abandonment, shame, and guilt in face of what happened.Objective: The aim of this study was to retrieve data on childhood bereavement due to primary caregiver suicide and explore psychopathological and psycho-affective developmental consequences of this type of grief.Methods: Literature review of articles published on PubMed database about the subject.Results and Discussion: Bereavement of a suicidal parent is associated with multiple psychopathological conditions: mood disorders, post-traumatic stress disorder, substance abuse, self-injurious behavior, suicidal behavior. Suicide and depressive disorder risk is higher when parental death occurred early in life course, with maternal suicide having greater impact. Antidepressants are more commonly used in cases of early parental death from suicide and are associated with increased hospitalizations for Major Depression and Bipolar Affective Disorder in adulthood. Consequences of parental death by suicide may be explained by several factors, as genetics, biological reactions, psychological factors originated from loss of an attachment figure, or social and environmental changes.Conclusions: Parental suicide can be impactful for children’s developmental trajectory and later functioning level. The authors alert to the need for prevention and early intervention strategies associated with this process.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"13 1","pages":"101-107"},"PeriodicalIF":0.0,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85004389","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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