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1.
Wiad Lek ; 72(9 cz 1): 1676-1682, 2019.
Artigo em Polonês | MEDLINE | ID: mdl-31586982

RESUMO

Rheumatoid arthritis (RA) is a chronic, systemic connective tissue disease, characterized by progressive, destructive polyarthritis with internal organs involvement due to active, systemic inflammation. The onset of disease occurs usually in 4th or 5th decade of life. Since the general population is ageing, beginning of RA in older age is more and more common. The term elderly onset of rheumatoid arthritis (EORA) describes the disease with onset at age over 60. Several observational studies indicated, that proportion of women and men is comparable in EORA. Clinical course of the disease is characterized by sudden onset with general constitutional symptoms, high disease activity and inflammatory parameters. Involvement of large joints is more common, specially shoulder joints. Antibodies typical for RA (rheumatoid factor, anti-citrullinated peptide) are usually negative. More advanced destructive changes of joints and functional impairment are also characteristic for EORA patients in comparison with younger onset of RA (YORA). In clinical practice the use of methotrexate and biological drugs is less common, and glucocorticosteroids more common in EORA. Due to high RA activity, patients with EORA should be treated in the same way as YORA, with careful monitoring due to higher risk of adverse events associated with treatment.


Assuntos
Artrite Reumatoide/diagnóstico , Idade de Início , Idoso , Artrite Reumatoide/terapia , Feminino , Glucocorticoides/uso terapêutico , Humanos , Inflamação , Masculino , Metotrexato/uso terapêutico
2.
Wiad Lek ; 72(9 cz 1): 1687-1690, 2019.
Artigo em Polonês | MEDLINE | ID: mdl-31586984

RESUMO

Sjögren's syndrome is a systemic autoimmune disease characterized by exocrine glands damage, resulting in the development of dry eyes and dry mouth, as well as extraglandular manifestation. It usually starts between the ages of 30 and 50. Late-onset Sjögren's syndrome should be considered as a disease that appears after age 65, but the literature also reports of the age 50, 60, or even 70. The prevalence of late-onset Sjögren's syndrome is estimated about 20%. The course of late-onset Sjögren's syndrome may differ when compared with patients with a younger onset. Lack of sicca symptoms and marker antibodies may be associated with a delay in Sjögren's syndrome diagnosis. Particularly in the elderly, the occurrence of sicca symptoms may be considered as age-related and medication-related.


Assuntos
Síndrome de Sjogren/diagnóstico , Adulto , Idade de Início , Idoso , Diagnóstico Tardio , Humanos , Pessoa de Meia-Idade , Síndrome de Sjogren/fisiopatologia
3.
Harefuah ; 158(9): 563-567, 2019 Sep.
Artigo em Hebraico | MEDLINE | ID: mdl-31507104

RESUMO

INTRODUCTION: The aging process of rheumatoid arthritis (RA) requires re-assessment of diagnostic and treatment approaches in patients who developed RA at 60-69 years (EORA-Elderly-Onset RA), 70 years and older (LORA-Late Onset RA) compared with CORA patients - Common Onset RA (35 - 50 years). METHODS: Comparing data of CORA, EORA and LORA patients: gender, nationality; swollen and tender joints (out of 28 joints), Disease Activity Score (DAS28), inflammatory markers, rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibodies (ACPA); treatment with corticosteroids and disease modifying anti rheumatic drugs (DMARDs). RESULTS: Patients' files were examined: CORA (39, 33.5%), EORA (37, 30.8%) and LORA (44, 36.7%). No differences were observed between swollen and tender joints, inflammatory markers, DAS28, RF, and ACPA. Methotrexate was introduced in 94.9% of CORA patients versus EORA (77.3%) and LORA (78.4%); 88.6% LORA-patients received corticosteroids versus 69.2% CORA; 43.2% of LORA patients and 92.3% CORA received synthetic disease-modifying antirheumatic drugs (DMARDs); 43.6% CORA versus 16.2% EORA and 9.3% LORA patients received biologics. CONCLUSIONS: No clinical and laboratory differences were found between CORA, EORA, and LORA groups. EORA and LORA patients received less synthetic and biological DMARDs. It is necessary to change the attitude to EORA and LORA and to promote advanced optimal treatments. Prospective studies on the efficacy and safety of novel drugs in EORA and LORA patients are needed.


Assuntos
Antirreumáticos , Artrite Reumatoide , Idade de Início , Idoso , Acesso aos Serviços de Saúde , Humanos , Estudos Prospectivos
4.
BMJ ; 366: l5214, 2019 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-31554611

RESUMO

OBJECTIVE: To compare the risk and severity of prostate cancer between men achieving fatherhood by assisted reproduction and men conceiving naturally. DESIGN: National register based cohort study. SETTING: Sweden from January 1994 to December 2014. PARTICIPANTS: 1 181 490 children born alive in Sweden during 1994-2014 to the same number of fathers. Fathers were grouped according to fertility status by mode of conception: 20 618 by in vitro fertilisation (IVF), 14 882 by intra-cytoplasmic sperm injection (ICSI), and 1 145 990 by natural conception. MAIN OUTCOME MEASURES: Prostate cancer diagnosis, age of onset, and androgen deprivation therapy (serving as proxy for advanced or metastatic malignancy). RESULTS: Among men achieving fatherhood by IVF, by ICSI, and by non-assisted means, 77 (0.37%), 63 (0.42%), and 3244 (0.28%), respectively, were diagnosed as having prostate cancer. Mean age at onset was 55.9, 55.1, and 57.1 years, respectively. Men who became fathers through assisted reproduction had a statistically significantly increased risk of prostate cancer compared with men who conceived naturally (hazard ratio 1.64, 95% confidence interval 1.25 to 2.15, for ICSI; 1.33, 1.06 to 1.66, for IVF). They also had an increased risk of early onset disease (that is, diagnosis before age 55 years) (hazard ratio 1.86, 1.25 to 2.77, for ICSI; 1.51, 1.09 to 2.08, for IVF). Fathers who conceived through ICSI and developed prostate cancer received androgen deprivation therapy to at least the same extent as the reference group (odds ratio 1.91; P=0.07). CONCLUSIONS: Men who achieved fatherhood through assisted reproduction techniques, particularly through ICSI, are at increased risk for early onset prostate cancer and thus constitute a risk group in which testing and careful long term follow-up for prostate cancer may be beneficial.


Assuntos
Antagonistas de Androgênios/uso terapêutico , Fertilização In Vitro/estatística & dados numéricos , Infertilidade Masculina/epidemiologia , Neoplasias da Próstata/tratamento farmacológico , Neoplasias da Próstata/epidemiologia , Adulto , Idade de Início , Estudos de Coortes , Fertilização , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Fatores de Risco , Injeções de Esperma Intracitoplásmicas/estatística & dados numéricos , Análise de Sobrevida , Suécia/epidemiologia
7.
Presse Med ; 48(7-8 Pt 1): 832-841, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31444019

RESUMO

Lymphoplasmocytic lymphona with monoclonal lgM, rare. Median age at diagnosis 70 years old, frail population. Heterogenous clinic presentation. Molecular diagnosis with MYD88. Treatment required for symptomatic WM patients only. 1st line therapy: DRC. Input of targeted therapies (ibrutinib) for frail patients, maintenance effect.


Assuntos
Macroglobulinemia de Waldenstrom , Idade de Início , Idoso , Análise Mutacional de DNA/métodos , Idoso Fragilizado , Humanos , Técnicas de Diagnóstico Molecular/métodos , Terapia de Alvo Molecular/métodos , Terapia de Alvo Molecular/tendências , Fator 88 de Diferenciação Mieloide/genética , Pirazóis/uso terapêutico , Pirimidinas/uso terapêutico , Macroglobulinemia de Waldenstrom/diagnóstico , Macroglobulinemia de Waldenstrom/epidemiologia , Macroglobulinemia de Waldenstrom/genética , Macroglobulinemia de Waldenstrom/terapia
8.
Presse Med ; 48(7-8 Pt 1): 859-870, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31447331

RESUMO

Non-follicular small cell lymphomas include several entities whose clinical and pathological descriptions have been refined in the last 20 years. MALT lymphoma, developed at the expense of lymphoid tissue associated with the mucosa, is usually localized to a given organ, but can also disseminate. Some patients with MALT lymphoma can be treated by eradicating the associated infectious agent, whereas local treatment should be preferred for other cases ; disseminated forms and relapsed patients are eligible for anti-CD20 antibodies associated with cytotoxic agents. Patients with mantle cell lymphoma have benefited from many advances, including the use of cytarabine and bendamustine, anti-CD20 antibodies, intensive treatments (autograft) and recently targeted therapy (ibrutinib, inhibitor or the Bruton tyrosine kinase). Patients with splenic nodal marginal zone lymphomas should be evaluated for different options, of which immunochemotherapy remains important. For all these entities, the implementation of treatments may be delayed by several years for certain groups of patients. Although considered as incurable, the prognosis of these pathologies has improved significantly and the majority of patients will be able to live for many years with often treatment-free intervals.


Assuntos
Linfoma de Zona Marginal Tipo Células B , Fatores Etários , Idade de Início , Anticorpos Monoclonais/uso terapêutico , Diagnóstico Diferencial , Humanos , Imunoterapia/métodos , Imunoterapia/tendências , Linfoma de Zona Marginal Tipo Células B/classificação , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/epidemiologia , Linfoma de Zona Marginal Tipo Células B/terapia , Terapia de Alvo Molecular/métodos , Terapia de Alvo Molecular/tendências , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/terapia , Medicina de Precisão/métodos , Medicina de Precisão/tendências , Prognóstico , Neoplasias Esplênicas/diagnóstico , Neoplasias Esplênicas/epidemiologia , Neoplasias Esplênicas/patologia , Neoplasias Esplênicas/terapia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/patologia , Neoplasias Gástricas/terapia
10.
Medicine (Baltimore) ; 98(32): e16732, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31393382

RESUMO

Medical decisions should be well-planned to improve prognosis and reduce complications of mediastinal tumors. In this study, we analyzed the clinical presentations of pediatric mediastinal tumors and their correlation with long-term clinical outcome.Forty patients under 18 years of age diagnosed with mediastinal tumors at China Medical University Children's Hospital between 2001 and 2016 were enrolled. The patients' sex, age of onset, initial clinical symptoms, and treatment outcomes were analyzed.75% of the patients with mediastinal tumors in this study were men, and the median age of onset was 13 years old (age range: 0-17 years). The overall mortality rate was 40%. The most common tumors were lymphoma (47.5%), followed by germ cell tumors (12.5%), neuroblastoma (12.5%), and thymoma (7.5%). Neuroblastoma was more prevalent in girls younger than 5 years old. The initial presentations of these patients included breathing difficulty (65%), productive cough (47.5%), pleural effusion (54.5%), superior vena cava (SVC) syndrome (35%), neck mass (35%), airway compression (32.5%), fever (30%), chest pain (27.5%), and pericardial effusion (25%). Lymphomas were more likely to be accompanied by neck mass (52.6% vs19.0%, P = .04) and SVC syndrome (52.6% vs 19.0%, P = .026), yet also had a better 1-year-survival rate (68.4% vs 52.4%, P = .02).Overall, lymphoma should be suspected when children present with neck mass and SVC syndrome. Neuroblastoma with a posterior mediastinal origin should be suspected among children younger than 5 years old. Tumor-related airway obstruction, pleural effusion, and pericardial effusion were leading cause of cardiopulmonary instability during sedation for invasive procedures, which should be managed cautiously.


Assuntos
Neoplasias do Mediastino/epidemiologia , Neoplasias do Mediastino/patologia , Adolescente , Idade de Início , Criança , Pré-Escolar , Dispneia/etiologia , Feminino , Humanos , Lactente , Masculino , Neoplasias do Mediastino/complicações , Derrame Pleural/etiologia , Fatores Sexuais , Síndrome da Veia Cava Superior/etiologia
11.
Zhonghua Er Ke Za Zhi ; 57(7): 532-537, 2019 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-31269553

RESUMO

Objective: To analyze the clinical phenotypes of epilepsies in children with GABRB2 variants. Methods: Data of 8 epileptic patients with heterozygous GABRB2 variants were retrospectively collected at the Department of Pediatrics, Peking University First Hospital from April 2016 to December 2018. The clinical, electroencephalographic, neuroimaging characteristics, therapeutic and follow-up were analyzed. Results: Eight patients (4 boys, 4 girls) with heterozygous GABRB2 gene pathogenic variants were enrolled. Eight patients had different GABRB2 variants, among whom 2 patients inherited the variants from either parent, and the other 6 patients had de novo variants. Seven variants were novel. Ages at seizure onset ranged from 1 day to 22 months after birth, and the median age was 6 months. The seizure was first observed within one month of age in 2 patients, 1-6 months in 2 patients, 7-12 months in 2 patients, and beyond 1 year of age in 2 patients. Multiple seizure types were observed, including focal seizures in 6 patients, generalized tonic clonic seizures (GTCS) in 4 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. Developmental delay was present in 6 patients. In 8 patients, Dravet syndrome was diagnosed in 3 patients, febrile seizures plus and West syndrome in 2 patients, respectively, Ohtahara syndrome in 1 patient. Six patients had epilepsy with fever sensitivity, and status epilepticus developed in all these patients. The ages at the last follow-up ranged from 8 months to 11 years, and the follow-up data showed that 5 patients were seizure-free, and 2 patients still had seizures, and 1 patient died of recurrent status epilepticus complicated with fungal infection. Conclusions: Epilepsies associated with GABRB2 variants were characterized by an onset in infancy, and the clinical features were heterogenous in seizure types and severities. Most patients had multiple seizures with fever sensitivity, and status epilepticus was common. Their seizures were easily induced by fever or infection. Additionally, the majority of the patients had varying degrees of developmental delay.


Assuntos
Epilepsias Mioclônicas/genética , Epilepsia/genética , Receptores de GABA-A/genética , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Mutação , Estudos Retrospectivos , Convulsões , Espasmos Infantis/genética
13.
Medicine (Baltimore) ; 98(28): e16389, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31305444

RESUMO

INTRODUCTION: Various phenotypes have been identified for MYH7 gene mutation-related myopathy. Here, we describe a patient with severe muscular weakness and skeletal deformity with de novo heterozygous MYH7 gene mutation. PATIENT CONCERNS: A 33-year-old woman presented with early onset of muscular weakness, with delayed motor development during infancy. At age 8 years, she was unable to walk, with signs of skeletal deformity, including the progression of kyphoscoliosis. At age 31 years, she developed dyspnea. DIAGNOSIS: She diagnosed with esophageal hiatal hernia with abdominal CT. In electromyography, short duration, small amplitude motor unit action potential (MUAP), and early recruitment patterns were observed in the involved proximal muscles, suggesting myopathy. Muscle histopathology showed fiber-type disproportion. INTERVENTIONS: Next-generation sequencing study revealed a heterozygous in-frame deletion variation in the exon 14 of the MYH7 gene (c.1498_1500del/p.Glu500del), which is a novel variation confirmed by conventional Sanger sequencing. Compared with the parental test, this variant was concluded as de novo. OUTCOMES: She received laparoscopic hiatal hernia repair and Nissen fundoplication for esophageal hiatal hernia. After surgery, her postural dyspnea improved. As there is no fundamental treatment for MYH7-related myopathies, she continued conservative treatment for her symptoms. CONCLUSION: Here, we presented a rare case of de novo mutation of the myosin head domain in the MYH7 gene. This report broadens both the phenotypic and genotypic spectra of MYH7-related myopathies.


Assuntos
Miosinas Cardíacas/genética , Cifose/genética , Debilidade Muscular/genética , Mutação , Cadeias Pesadas de Miosina/genética , Escoliose/genética , Adulto , Idade de Início , Dispneia/etiologia , Dispneia/genética , Dispneia/cirurgia , Feminino , Humanos , Cifose/fisiopatologia , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Fenótipo , Escoliose/fisiopatologia
14.
Zhonghua Er Ke Za Zhi ; 57(8): 620-624, 2019 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-31352748

RESUMO

Objective: To improve the awareness of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation. Methods: A retrospective analysis of the clinical manifestations, radiological features, laboratory tests, genetic variations, treatments and prognoses was conducted in six children presented with diffuse lung disease and finally diagnosed with methylmalonic acidemia and hyperhomocysteinemia in Ward 2 of Department of Respiratory Diseases, Beijing Children's Hospital, from August 2017 to November 2018. Results: Six children were included in this study. Two children were male and four were female. The average age of onset was 28 months. The mean age at diagnosis was 34 months. The average interval from onset to diagnosis was 6 months. Four children who underwent genetic tests were found to have variants of gene MMACHC and diagnosed with CblC type. All children had respiratory symptoms and signs as initial or main presentation, which were tachypnea (5 cases), exercise intolerance (5 cases), cough (4 cases), cyanosis (4 cases), clubbing (4 cases), dyspnea (3 cases) and retractions (3 cases). Pulmonary arterial hypertension was found in all six children. Pericardial effusion (4 cases), kidney involvement (3 cases), nervous system involvement (3 cases), gastrointestinal system involvement (3 cases) and anemia (2 cases) also coexisted. The high resolution computed tomography (HRCT) features included dilated pulmonary artery (6 cases), ground-glass opacities (4 cases), diffuse poorly defined ground-glass centrilobular nodules (3 cases), pleural effusion (3 cases), thickening of interlobular septum (2 cases), etc. All children had an elevated concentration of methylmalonic acid in urine and homocysteine in plasma. Genetic tests were performed in four patients, and MMACHC genetic mutations were found in all of them. Clinical manifestations, HRCT features and pulmonary arterial hypertension turned better in five children after treatment. One patient who was not regularly followed-up died. Conclusions: Pulmonary involvement including diffuse lung disease and pulmonary arterial hypertension could coexist with methylmalonic acidemia and hyperhomocysteinemia, which may have respiratory symptoms and signs as the initial or main presentation. Characteristic HRCT features were found in some patients. Plasma homocysteine test is a quick method for screening the disease in children with diffuse lung disease and (or) pulmonary arterial hypertension. Both diffuse lung disease and pulmonary arterial hypertension may turn better after treatment.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Hiper-Homocisteinemia/diagnóstico , Pneumopatias/etiologia , Pulmão/fisiopatologia , Artéria Pulmonar/diagnóstico por imagem , Idade de Início , Erros Inatos do Metabolismo dos Aminoácidos/urina , Proteínas de Transporte , Criança , Pré-Escolar , Feminino , Humanos , Hiper-Homocisteinemia/sangue , Lactente , Masculino , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
15.
Medicine (Baltimore) ; 98(30): e16402, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31348240

RESUMO

BACKGROUND: Drug resistant epilepsy (DRE) is very common among children and adults and studies had found some related risk factors for DRE, while the results were not consistent. The aim of this study was to identify risk factors for drug-resistant epilepsy. METHODS: Three electronic databases (Medline, Embase and Cochrane library) were searched to identify studies with a cohort design reporting on epidemiologic evidence regarding risk factors for DRE. RESULTS: The pooled prevalence of DRE in newly diagnosed epilepsy patients was 25% (95% CI 17-32%). Abnormal electroencephalography (EEG) (both slow wave and epileptiform discharges) (RR 2.80; 95% CI 1.95-4.0), status epilepticus (SE) (RR 11.60; 95% CI 7.39-18.22), symptomatic etiology (RR 3.36; 95% CI 2.53-4.46), multiple seizure types (RR 3.66; 95% CI 2.37-5.64) and febrile seizures (RR 3.43; 95% CI 1.95-6.02) were identified as strong risk factors for DRE. In addition, firm conclusions cannot be drawn for poor short-term outcomes of therapy, neurodevelopment delay and high initial seizure frequency for the heterogeneity of study results. The predictive effect of focus onset seizure was not stable after removing one study and switching the effect model. Age of onset was not risk factors for DRE. CONCLUSIONS: The current meta-analysis identified potential risk factors for DRE. The results may contribute to better prevention strategies and treatments for DRE.


Assuntos
Epilepsia Resistente a Medicamentos/epidemiologia , Idade de Início , Epilepsia Resistente a Medicamentos/classificação , Eletroencefalografia , Epilepsias Parciais/epidemiologia , Epilepsia Generalizada/epidemiologia , Humanos , Transtornos do Neurodesenvolvimento/epidemiologia , Fatores de Risco , Estado Epiléptico/epidemiologia , Fatores de Tempo
17.
BMJ ; 366: l2381, 2019 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-31307997

RESUMO

Pre-eclampsia is a common disorder that particularly affects first pregnancies. The clinical presentation is highly variable but hypertension and proteinuria are usually seen. These systemic signs arise from soluble factors released from the placenta as a result of a response to stress of syncytiotrophoblast. There are two sub-types: early and late onset pre-eclampsia, with others almost certainly yet to be identified. Early onset pre-eclampsia arises owing to defective placentation, whilst late onset pre-eclampsia may center around interactions between normal senescence of the placenta and a maternal genetic predisposition to cardiovascular and metabolic disease. The causes, placental and maternal, vary among individuals. Recent research has focused on placental-uterine interactions in early pregnancy. The aim now is to translate these findings into new ways to predict, prevent, and treat pre-eclampsia.


Assuntos
Placenta/metabolismo , Pré-Eclâmpsia/patologia , Útero/metabolismo , Idade de Início , Feminino , Humanos , Pré-Eclâmpsia/metabolismo , Gravidez , Fatores de Risco , Trofoblastos/metabolismo , Trofoblastos/patologia
18.
Pan Afr Med J ; 32: 162, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31303931

RESUMO

Introduction: Addition in patients of less than 40 years is not uncommon in our practice. We investigated the need for addition after objective refraction and thus determine the average age of onset of the presbyopia. Methods: We conducted a cross-sectional descriptive study of patients aged 35-45 years at the Central Hospital of Yaoundé over a period of three months. All patients underwent cycloplegic refraction. Distance visual acuity was corrected after instillation of cycloplegic eye drops while near addition was assessed two days later when the cycloplegia was no longer effective. Possible additional distance correction was done 2 days after cycloplegia. Statistical analysis was done using IBM SPSS 20.0 software. Results: We examined 55 patients, 110 eyes. The average age of patients was 41.87±2.5 years, the sex-ratio was 0.28. There was a female predominance. Hypermetropic astigmatism was the most common ametropia (58.2% of cases) followed by hyperopia (24.6%).No patient was myopic. the average age of presbyopia onset in this age group was 43.2±1.7 years. After objective correction of distance visual acuity, no patient needed for addition before the age of 40. Moreover, 4 out of 10 patients with hypermetropic ametropia did not need addition before the age of 40. Addition was significantly associated with age. Conclusion: The average age of presbyopia onset is 43.2±1.7 years. Before the age of 45, addition must be preceded by objective refraction.


Assuntos
Hiperopia/epidemiologia , Miopia/epidemiologia , Presbiopia/epidemiologia , Erros de Refração/epidemiologia , Adulto , Grupo com Ancestrais do Continente Africano , Idade de Início , Camarões/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Midriáticos/administração & dosagem , Acuidade Visual
19.
Anticancer Res ; 39(6): 3131-3136, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31177158

RESUMO

BACKGROUND/AIM: Although genoproteomic and clinicopathological knowledge on Lynch syndrome (LS) and familial adenomatous polyposis (FAP) has notably increased during the past two decades and even though surgery represents the mainstay of treatment for both conditions, as of 2019, the surgical choice in terms of timing and procedure still appears controversial in the absence of definitive guidelines. MATERIALS AND METHODS: Data were retrospectively analyzed of patients with colorectal cancer (CRC) surgically treated at our Institution between 1st January 2003 and 31st December 2018. Particular attention was given to patients with LS and FAP ≤45 years of age (young-onset CRC); for this category of patients, the surgical procedures performed were compared in terms of benefits and disadvantages. RESULTS: A total of 1,878 primary CRCs were submitted to major surgery; young-onset malignancies accounted for 3.8% of all CRCs. Thirteen young-onset inherited CRCs were surgically removed from 11 patients with LS and two with FAP. Segmental colectomy and restorative proctocolectomy were the procedures most frequently performed in young patients with LS and FAP, respectively. CONCLUSION: In the light of our retrospective results, we highlight the need for randomized controlled trials comparing the surgical options for LS- and FAP-related CRC developing in young patients. Defining the advantages and risks of each surgical option is of the utmost importance in order to improve prognosis of such patients and establish unanimous recommendations.


Assuntos
Polipose Adenomatosa do Colo/cirurgia , Colectomia , Neoplasias Colorretais Hereditárias sem Polipose/cirurgia , Proctocolectomia Restauradora , Procedimentos Cirúrgicos Profiláticos , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/mortalidade , Polipose Adenomatosa do Colo/patologia , Adolescente , Adulto , Idade de Início , Colectomia/efeitos adversos , Colectomia/mortalidade , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/mortalidade , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Progressão da Doença , Feminino , Predisposição Genética para Doença , Hereditariedade , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Proctocolectomia Restauradora/efeitos adversos , Proctocolectomia Restauradora/mortalidade , Procedimentos Cirúrgicos Profiláticos/efeitos adversos , Procedimentos Cirúrgicos Profiláticos/mortalidade , Estudos Retrospectivos , Fatores de Risco , Roma , Fatores de Tempo , Resultado do Tratamento
20.
J Pediatr Orthop ; 39(Issue 6, Supplement 1 Suppl 1): S38-S43, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31169646

RESUMO

BACKGROUND: Early-onset scoliosis (EOS) is defined as the diagnosis of a spinal deformity before the age of 5 years. It can be divided into idiopathic, neuromuscular/syndromic, and congenital etiologies. METHODS: The literature on the natural history of EOS was summarized. RESULTS: The natural history varies with the etiology of EOS. Idiopathic curves may benefit from early serial casting. The natural history of neuromuscular and syndromic scoliosis is highly dependent on the natural history of the underlying disorder. Congenital scoliosis has a variable prognosis depending on the location and extent of the congenital malformations. CONCLUSIONS: Treatment of children with EOS is customized to the particular disorder. While lack of treatment has been shown to lead to increased mortality, extensive early definitive fusion may lead to thoracic insufficiency. Delaying definitive surgery and the use of growing instrumentation may provide benefit in maintaining pulmonary health. CLINICAL RELEVANCE: Potential disturbance of growth must be considered in the treatment of young children with scoliosis.


Assuntos
Pulmão/crescimento & desenvolvimento , Insuficiência Respiratória/etiologia , Escoliose/etiologia , Escoliose/terapia , Fusão Vertebral/efeitos adversos , Tórax/crescimento & desenvolvimento , Idade de Início , Pré-Escolar , Progressão da Doença , Humanos , Respiração , Escoliose/congênito , Escoliose/fisiopatologia , Coluna Vertebral/crescimento & desenvolvimento , Coluna Vertebral/cirurgia , Síndrome
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