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1.
Am J Obstet Gynecol ; 222(2): 176.e1-176.e11, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31454511

RESUMO

BACKGROUND: Diabetes is associated with an increased risk for many birth defects and is likely to have an increasing impact on birth defect prevalence because of the rise in diabetes in the United States in recent decades. One of the first analyses in which specific birth defects were assessed for their relationship with both pregestational and gestational diabetes used data from the initial 6 years of the National Birth Defects Prevention Study. That analysis reported strong associations for pregestational diabetes with several birth defects, but few exposures among some of the less common birth defects led to unstable estimates with wide confidence intervals. Since that analysis, the study continued to collect data for another 8 years, including information on approximately 19,000 additional cases and 6900 additional controls. OBJECTIVE: Our objective was to use data from the National Birth Defects Prevention Study, the largest population-based birth defects case-control study in the United States, to provide updated and more precise estimates of the association between diabetes and birth defects, including some defects not previously assessed. STUDY DESIGN: We analyzed data on deliveries from October 1997 through December 2011. Mothers of case and control infants were interviewed about their health conditions and exposures during pregnancy, including diagnosis of pregestational (type 1 or type 2) diabetes before the index pregnancy or gestational diabetes during the index pregnancy. Using logistic regression, we separately assessed the association between pregestational and gestational diabetes with specific categories of structural birth defects for which there were at least 3 exposed case infants. For birth defect categories for which there were at least 5 exposed case infants, we calculated odds ratios adjusted for maternal body mass index, age, education, race/ethnicity, and study site; for defect categories with 3 or 4 exposed cases, we calculated crude odds ratios. RESULTS: Pregestational diabetes was reported by 0.6% of mothers of control infants (71 of 11,447) and 2.5% of mothers of case infants (775 of 31,007). Gestational diabetes during the index pregnancy was reported by 4.7% of mothers of control infants (536 of 11,447) and 5.3% of mothers of case infants (1,653 of 31,007). Pregestational diabetes was associated with strong, statistically significant odds ratios (range, 2.5-80.2) for 46 of 50 birth defects considered. The largest odds ratio was observed for sacral agenesis (adjusted odds ratio, 80.2; 95% confidence interval, 46.1-139.3). A greater than 10-fold increased risk was also observed for holoprosencephaly (adjusted odds ratio, 13.1; 95% confidence interval, 7.0-24.5), longitudinal limb deficiency (adjusted odds ratio, 10.1; 95% confidence interval, 6.2-16.5), heterotaxy (adjusted odds ratio, 12.3; 95% confidence interval, 7.3-20.5), truncus arteriosus (adjusted odds ratio, 14.9; 95% confidence interval, 7.6-29.3), atrioventricular septal defect (adjusted odds ratio, 10.5; 95% confidence interval, 6.2-17.9), and single ventricle complex (adjusted odds ratio, 14.7; 95% confidence interval, 8.9-24.3). For gestational diabetes, statistically significant odds ratios were fewer (12 of 56) and of smaller magnitude (range, 1.3- 2.1; 0.5 for gastroschisis). CONCLUSION: Pregestational diabetes is associated with a markedly increased risk for many specific births defects. Because glycemic control before pregnancy is associated with a reduced risk for birth defects, ongoing quality care for persons with diabetes is an important opportunity for prevention.


Assuntos
Anormalidades Congênitas/epidemiologia , Diabetes Gestacional/epidemiologia , Gravidez em Diabéticas/epidemiologia , Anormalidades Múltiplas/epidemiologia , Adulto , Estudos de Casos e Controles , Feminino , Gastrosquise/epidemiologia , Cardiopatias Congênitas/epidemiologia , Holoprosencefalia/epidemiologia , Humanos , Deformidades Congênitas dos Membros/epidemiologia , Meningocele/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Gravidez , Região Sacrococcígea/anormalidades , Estados Unidos/epidemiologia , Adulto Jovem
2.
Neoreviews ; 20(12): e711-e724, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31792158

RESUMO

Spinal dysraphism, which includes conditions such as myelomeningocele and sacral agenesis, is one of the most common causes of congenital lower urinary tract dysfunction. Early evaluation of the neurogenic bladder serves to minimize renal damage, and the main goals of management include preserving renal function, achieving acceptable continence, and optimizing quality of life. The survival of patients with such conditions has improved to greater than 80% reaching adulthood, owing to advances in diagnostic and therapeutic modalities. The result is a real, and unfortunately often unmet, need for successful transitional care in this complex patient population. Clinicians must be able to identify the unique challenges encountered by patients with neurogenic bladder as they shift through different stages of their life.


Assuntos
Inibidores da Liberação da Acetilcolina/uso terapêutico , Toxinas Botulínicas Tipo A/uso terapêutico , Antagonistas Colinérgicos/uso terapêutico , Bexiga Urinaria Neurogênica/terapia , Cateterismo Urinário/métodos , Anormalidades Múltiplas/diagnóstico por imagem , Terapias Fetais , Humanos , Hidronefrose/etiologia , Hidronefrose/prevenção & controle , Meningocele/complicações , Meningocele/diagnóstico por imagem , Meningomielocele/complicações , Meningomielocele/diagnóstico por imagem , Meningomielocele/cirurgia , Região Sacrococcígea/anormalidades , Região Sacrococcígea/diagnóstico por imagem , Espinha Bífida Oculta/complicações , Espinha Bífida Oculta/diagnóstico por imagem , Disrafismo Espinal/complicações , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/cirurgia , Transição para Assistência do Adulto , Ultrassonografia Pré-Natal , Bexiga Urinária , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/fisiopatologia , Infecções Urinárias , Urodinâmica , Urologia , Refluxo Vesicoureteral , Conduta Expectante
3.
Wound Manag Prev ; 65(8): 30-37, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31373568

RESUMO

Existing evidence is inadequate to assume increased skin temperature is a risk factor for the development of pressure ulcers (PUs). PURPOSE: The purpose of this prospective, descriptive study was to examine the relationship between sacral skin temperature and PU development. METHODS: Using convenience sampling methods, patients who were hospitalized in the tertiary intensive care unit (ICU) of the internal medicine department of a university hospital in Izmir, Turkey, between April and December 2015 were eligible to participate if they were ⟩18 years of age, had an expected hospital stay of at least 5 days, a Braden score ≤12, and were admitted without a PU. Demographic and clinical data collected included age, gender, body mass index, diagnosis, mattress type, length of follow-up (days), systolic and diastolic blood pressure, body temperature, hemoglobin level, sacral skin temperatures in the supine and lateral positions, room temperature, PU stage and duration, and Braden score. Temperature was measured the day of hospitalization as a baseline measurement (day 1) and once every day thereafter up to 22 days, until the patient did or did not develop a PU, died, was no longer undergoing position change, or was discharged. Sacral skin temperature was taken immediately after the patient was moved to a lateral position following 120 minutes of supine position (referred to as supine position sacral skin temperature measurement) and after 30 minutes in lateral position (referred to as lateral position sacral skin temperature measurement). Data were collected using paper-and-pencil questionnaires and entered into a software program for analysis. Descriptive statistics, Student's t test, one-way analysis of variance test, Pearson product-moment correlation analysis, and Spearman's rank-order correlation analysis were used for data analysis. RESULTS: Of the 37 patients who met the inclusion criteria and were monitored for at least 5 days, 21 (56.8%) developed PUs. No statistically significant difference in supine position sacral skin temperature on day 1 or day 5 was found between patients who did and did not develop a PU (36.90° C ± 0.29° C and 37.15° C ± 0.53° C, respectively, on day 1; t = -1.656, P = .112; and 37.37° C ± 0.53° C and 37.30° C ± 0.79° C, respectively, on day 5; t = 0.259, P = .798). Day 5 lateral position skin temperatures also did not differ significantly between the 2 groups (37.44° C ± 0.44° C and 37.31° C ± 0.75° C, respectively; t = 1.306, P = .621). A statistically significant difference was noted between mean sacral skin temperature in the supine position among patients ages 75 to 90 years compared with patients 38 to 64 years and 65 to 74 years (36.93° C ± 0.39° C; F = 13.221, P = .000) and with use of a viscoelastic mattress compared with an alternating pressure air mattress and continuous lateral rotation alternating pressure air mattress (37.85° C ± 0.54° C; F = 14.039, P = .000). No statistically significant differences in sacral skin temperatures were found for any of the of the other variables assessed. CONCLUSION: Sacral skin temperatures were not statistically different between ICU patients who did and did not develop a PU. Additional research may help increase understanding of the relationship between skin temperature and PU development.


Assuntos
Lesão por Pressão/fisiopatologia , Região Sacrococcígea/irrigação sanguínea , Temperatura Cutânea/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lesão por Pressão/complicações , Estudos Prospectivos , Fatores de Risco , Região Sacrococcígea/anormalidades , Região Sacrococcígea/fisiopatologia , Turquia
4.
Am J Med Genet A ; 179(9): 1799-1814, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31294918

RESUMO

Sacral agenesis is a rare birth defect characterized by partial or complete absence of the sacrum. We sought to (a) describe case characteristics, (b) estimate birth prevalence, and (c) identify risk factors for nonsyndromic sacral agenesis using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS was a population-based, case-control study involving pregnancies with estimated dates of delivery from October 1997 through December 2011. We estimated birth prevalence using all NBDPS eligible cases. Using self-reported maternal exposure information, we conducted multivariable logistic regression analysis to identify potential risk factors overall and among women without diabetes. The birth prevalence of sacral agenesis was 2.6/100,000 live births. In the multivariable analysis, multifetal pregnancy, pre-existing Type 1 diabetes, and pre-existing Type 2 diabetes were positively and significantly associated with sacral agenesis, albeit estimates were imprecise. Preexisting Type 1 diabetes was the strongest risk factor (adjusted odds ratio = 96.6, 95% confidence interval = 43.5-214.7). Among women without diabetes, periconceptional smoking was positively and significantly associated with sacral agenesis. Our findings underscore the importance of smoking cessation programs among women planning pregnancy and the importance of better understanding the role of glycemic control before and during pregnancy when designing interventions for primary prevention of sacral agenesis.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Congênitas/epidemiologia , Diabetes Mellitus/epidemiologia , Meningocele/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Região Sacrococcígea/anormalidades , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adulto , Estudos de Casos e Controles , Anormalidades Congênitas/genética , Anormalidades Congênitas/fisiopatologia , Complicações do Diabetes/epidemiologia , Complicações do Diabetes/genética , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus/genética , Diabetes Mellitus/fisiopatologia , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna , Meningocele/etiologia , Meningocele/genética , Meningocele/fisiopatologia , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , População/genética , Gravidez , Fatores de Risco , Região Sacrococcígea/fisiopatologia , Sacro/anormalidades
5.
J Wound Ostomy Continence Nurs ; 46(3): 256-262, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31083070

RESUMO

BACKGROUND: Recent revisions to the pressure injury staging system include guidance on differential diagnoses for deep tissue pressure injury (DTPI). Accurately identifying DTPI is critical; however, purpura in the setting of vascular disorders and systemic infectious processes can share similar features confounding diagnosis. CASES: In this three-case series, we describe suspected DTPI with an uncharacteristic shape or occurring in the presence of additional lesions distributed outside of typical pressure areas prompted further evaluation. CONCLUSIONS: The interdisciplinary approach we adapted was useful in determining the cause of purpura when the DTPI was ruled out by the certified wound care nurse.


Assuntos
Lesão por Pressão/classificação , Púrpura/etiologia , Região Sacrococcígea/anormalidades , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lesão por Pressão/complicações , Púrpura/classificação , Região Sacrococcígea/irrigação sanguínea
7.
Echocardiography ; 36(2): 415-418, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30685882

RESUMO

Caudal regression syndrome (CRS) is a rare congenital malformation with varying degrees of early gestational developmental failure. It is characterized by agenesis of the sacrum and lumbar spine, with lower limb neurological deficit and accompanying deformities of the pelvis, lower extremities, genitourinary, and gastrointestinal systems. We report a case of CRS associated with rare complex congenital heart defect, that is, heterotaxy syndrome, diagnosed prenatally.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Síndrome de Heterotaxia/diagnóstico por imagem , Deformidades Congênitas dos Membros/diagnóstico por imagem , Vértebras Lombares/anormalidades , Meningocele/diagnóstico por imagem , Região Sacrococcígea/anormalidades , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas/embriologia , Aborto Eugênico , Adulto , Feminino , Síndrome de Heterotaxia/complicações , Síndrome de Heterotaxia/epidemiologia , Humanos , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/embriologia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/embriologia , Meningocele/complicações , Meningocele/embriologia , Gravidez , Região Sacrococcígea/diagnóstico por imagem , Região Sacrococcígea/embriologia , Sacro/anormalidades , Sacro/diagnóstico por imagem , Sacro/embriologia , Síndrome
8.
Spine Deform ; 7(1): 171-175, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30587312

RESUMO

STUDY DESIGN: Case report. OBJECTIVES: To describe use of expansion thoracoplasty (ET) for severe thoracic insufficiency syndrome (TIS) in an adolescent with severe spinal deformity. BACKGROUND: ET is typically performed in young patients with TIS to increase chest cavity volume, improve alveolar expansion, and potentially improve alveolar proliferation. ET has not been well-described in adolescent patients with TIS. METHOD: A mature adolescent with previously treated myelokyphosis and sacral agenesis developed severe TIS with dependence on supplemental oxygen and noninvasive ventilation. She was treated with two-stage bilateral ET and vertical expandable prosthetic titanium rib (VEPTR) placement. Yearly pulmonary function testing (PFT) was performed over 7 years of follow-up. RESULTS: Significant clinical pulmonary improvement was achieved and maintained at final follow-up, as the patient no longer required supplemental oxygen. Percentage predicted forced vital capacity (FVC) improved from 29% to 36%; percentage predicted forced expiratory volume-1 second (FEV1) improved from 30% to 36%. CONCLUSIONS: This case demonstrates that improvement and stabilization of respiratory function can be achieved with instrumented ET in a skeletally mature adolescent with severe TIS and spinal deformity.


Assuntos
Anormalidades Múltiplas/cirurgia , Meningocele/cirurgia , Região Sacrococcígea/anormalidades , Escoliose/cirurgia , Toracoplastia/métodos , Criança , Feminino , Humanos , Meningocele/complicações , Costelas/cirurgia , Região Sacrococcígea/cirurgia , Escoliose/complicações , Vértebras Torácicas/cirurgia , Resultado do Tratamento
9.
Pan Afr Med J ; 30: 219, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30574238

RESUMO

Caudal regression syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower limb shortening and gastrointestinal, genitourinary and cardiovascular abnormalities. Its relationship with gestational diabetes is well established, but its exact cause is poorly established. We here report a rare case of caudal regression syndrome in a 8-month old infant of diabetic mother with polymalformative syndrome and chronic constipation.


Assuntos
Anormalidades Múltiplas/diagnóstico , Constipação Intestinal/etiologia , Gravidez em Diabéticas/fisiopatologia , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Doença Crônica , Feminino , Humanos , Lactente , Masculino , Gravidez , Região Sacrococcígea/anormalidades , Síndrome
10.
Medicine (Baltimore) ; 97(37): e12162, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30212942

RESUMO

INTRODUCTION: Sacral agenesis is a rare congenital disease with radiologic manifestation of sacrum deformity. Its clinical manifestations include spinopelvic instability due to sacroiliac joint deformity, spinal rotation, scoliosis, difficulties in walking, and claudication. Surgical intervention aims to prevent further deformity progression and to improve the patients' walking function. It is challenging to achieve solid arthrodesis for this congenital disease, and fusion failure could aggravate deformity. CASE PRESENTATION: We retrospectively studied one case of a 12-year-old girl with sacral agenesis combined with spinopelvic dissociation and spinal scoliosis. She was presented with intermittent lumbosacral pain and worsening walking instability. We reconstructed the posterior pelvic ring through 1 iliac screw implanted in the bilateral posterior superior iliac spine, and the preflexed connecting rod was tightly locked with bilateral screws through the opening at the right spinal process of S2. With this method, bilateral ilia and sacrum were integrated and hemipelvic floating could be corrected. Bone fusion was achieved between the bilateral ilia and the sacrum. CONCLUSION: Ilium-sacrum-ilium internal fixation and fusion for treating sacral agenesis combined with spinopelvic dissociation could achieve sacroiliac joint fusion. It is easy to perform and could cause little trauma while preserving the lumbar motion segment, which will provide new insight for treating sacral agenesis.


Assuntos
Anormalidades Múltiplas/cirurgia , Meningocele/cirurgia , Ossos Pélvicos/cirurgia , Região Sacrococcígea/anormalidades , Sacro/cirurgia , Escoliose/cirurgia , Criança , Feminino , Fixação Interna de Fraturas , Humanos , Ílio/cirurgia , Fixadores Internos , Região Sacrococcígea/cirurgia
11.
Childs Nerv Syst ; 34(6): 1263-1266, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29404676

RESUMO

Medulloblastoma is a congenital brain tumor which can be associated with different congenital anomalies. However, coincidence of cerebellar medulloblastoma with sacral agenesis has not been reported so far. A variety of genetic and/or environmental predisposing factors have been proposed for both diseases. Herein, an unprecedented coincidence of these two conditions is presented. A neonate was born with lumbosacral agenesis, paraplegia, and atrophic legs, and he developed medulloblastoma with three ventricular hydrocephalus 3 years later. Different aspects regarding the embryology and etiology of both ailments are discussed, assuming the possibility that the same genetic and/or environmental risk factors may have played a part in both conditions.


Assuntos
Neoplasias Cerebelares/complicações , Meduloblastoma/complicações , Meningocele/complicações , Região Sacrococcígea/anormalidades , Anormalidades Múltiplas , Humanos , Recém-Nascido , Masculino
12.
J Wound Ostomy Continence Nurs ; 45(1): 17-21, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29300285

RESUMO

PURPOSE: The purpose of this study was to test the hypothesis that temperature differentials measured by thermal imaging of sacral versus a remote skin area in critically ill patients differentiate those with significant vascular disease and risk for pressure injury of the sacral area. DESIGN: Prospective cohort study. SUBJECTS AND SETTING: The sample comprised 100 patients (58 men, 42 women) with mean ± SD ages of 70.4 ± 14.4 and 74.0 ± 14.5 years, respectively, who were admitted to a cardiovascular intermediate care unit or a neurosurgical intensive care unit in the southeastern region of the United States. METHODS: A commercially available thermal imaging system was used to obtain simultaneous standard photographic and infrared thermal images (11 × 14 inches) that included the patient's buttocks and a remote skin area after the patient was off-loaded for about 4 minutes. Images were processed to determine temperature differences between the sacral region (deemed to have an elevated risk for pressure injury) and a remote region of the skin located at least 10-cm proximal to the sacrum, with an average sacrum-to-remote distance of 17.9 ± 3.0 cm that was deemed to be at minimal risk. Prior measurements of healthy subjects showed that sacral skin was on average 0.75°C less than the remote skin site (ΔT =-0.75°C). For the present analysis, a threshold ΔTTH of twice that amount (ΔT =-1.5°C) or more was considered to put a patient at greater than normal risk based on the hypothesis that low sacral temperatures were associated with lowered blood perfusion issues of various clinical conditions. The vascular status of patients who equaled or exceeded this threshold was compared to the other patients. RESULTS: Thirty-two patients exceeded ΔTTH, with an average ΔT of -1.92°C ± 0.62°C. In 6 patients, ΔT was greater than +1.5°C, with average of +1.98°C ± 0.49°C. The remaining 63 patients had an average ΔT of 0.13°C ± 0.58°C. Chi-square analysis of the proportions of patients exceeding or not exceeding thresholds in relation to their known vascular disease status revealed no significant difference between these subgroups. CONCLUSIONS: Although infrared thermal screening may provide visually impressive and potentially useful images in some cases, the use of temperature differentials to detect patients at particularly high risk for pressure injury owing to local blood flow is not supported by results of this study.


Assuntos
Raios Infravermelhos/uso terapêutico , Região Sacrococcígea/fisiopatologia , Temperatura Cutânea/fisiologia , Pele/irrigação sanguínea , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Estudos de Coortes , Feminino , Humanos , Escala de Gravidade do Ferimento , Unidades de Terapia Intensiva/organização & administração , Masculino , Pessoa de Meia-Idade , Pressão/efeitos adversos , Lesão por Pressão/diagnóstico , Lesão por Pressão/fisiopatologia , Lesão por Pressão/prevenção & controle , Estudos Prospectivos , Região Sacrococcígea/anormalidades , Pele/fisiopatologia
13.
J Ultrasound Med ; 37(7): 1807-1820, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29377253

RESUMO

The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose a systematic prenatal approach to cases of fetal sacral agenesis based on 9 etiologic items: clinical context, type of sacral dysgenesis, associated spinal cord malformations, mobility of lower limbs, investigation of the presacral region, analysis of the gastrointestinal tract, analysis of the genitourinary tract, associated vertebral defects, and cytogenetic analysis.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Meningocele/diagnóstico por imagem , Região Sacrococcígea/anormalidades , Ultrassonografia Pré-Natal/métodos , Feminino , Humanos , Gravidez , Região Sacrococcígea/diagnóstico por imagem , Região Sacrococcígea/embriologia
14.
J Spinal Cord Med ; 41(4): 496-500, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-28875772

RESUMO

CONTEXT: Caudal regression syndrome is a rare disorder, not well described in the literature. FINDINGS: Authors treated two patients with congenital absence of thoracolumbar vertebrae and lower limbs paraplegia. Patients had hypoplasia of the lower trunk and extremities with motion between upper and lower torso. Imaging showed caudal spine agenesis, but cleft sacrum was present. Due to severe kyphotic deformity and spinal instability, deformity correction and posterior fusion was performed at the age 6 and 8. Finally, fusion was achieved in one case and stable but non-fusion kyphotic posture was observed in second. CONCLUSION: surgery in caudal regression syndrome is challenging and bears high risk of complications.


Assuntos
Anormalidades Múltiplas/diagnóstico , Região Lombossacral/anormalidades , Meningocele/diagnóstico , Região Sacrococcígea/anormalidades , Criança , Feminino , Humanos , Masculino , Síndrome
15.
Rev. cuba. obstet. ginecol ; 43(4): 77-83, oct.-dic. 2017. ilus
Artigo em Espanhol | LILACS | ID: biblio-901334

RESUMO

El Síndrome de Currarino se define como la presencia de una tríada característica que asocia: estenosis anal, malformación sacrococcígea y masa presacra. La escasa sintomatología, caracterizada además por su inespecificidad, provoca que en muchas ocasiones el diagnóstico se realice durante la edad adulta y pueda confundirse con patologías ginecológicas, de origen predominantemente oncológico. El diagnóstico mediante pruebas de imagen, se realiza fundamentalmente a través de la resonancia magnética nuclear. La extirpación quirúrgica de la masa presacra unida al tratamiento sintomático del resto de la triada son la base terapéutica de esta infrecuente patología. Presentamos el caso de una paciente de 20 años de edad con estreñimiento crónico y dolor abdominal inespecífico. Es enviada al Servicio de Ginecología por la presencia de una masa de gran tamaño que se supone de origen anexial. Tras el estudio exhaustivo de dicha paciente, se llegó a la conclusión diagnóstica de que dicha tumoración corresponde a un meningocele, asociado a agenesia parcial sacra y estenosis anal; tríada que define al Síndrome de Currarino.


Currarino Syndrome is defined as the presence of a characteristic triad that associates anal stricture, sacrococcygeal malformation and presacral mass defines this syndrome. The scarce symptomology, also characterized by nonspecific symptoms, conditions that in many cases the diagnosis is made in adulthood and can be confused with gynecological pathologies. The diagnosis is made by imaging tests, fundamentally the NMR (nuclear magnetic resonance). The main treatment is the surgical excision of the mass presacra together with the symptomatic treatment of the rest of symptoms. We present the case of a 20-year-old patient with chronic constipation and abdominal pain that is referred to Gynecology due to the presence of a mass that is supposed to be adnexal. After the study of this patient is diagnosed a meningocele, associated with partial sacral agenesis and anal stricture, triad that defines Currarino Syndrome.


Assuntos
Humanos , Feminino , Adulto , Região Sacrococcígea/anormalidades , Malformações Anorretais/cirurgia , Meningocele/cirurgia , Sacro/anormalidades
16.
J. coloproctol. (Rio J., Impr.) ; 37(4): 336-340, Oct.-Dec. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-893998

RESUMO

ABSTRACT Presacral tumors are rare lesions of the retrorectal space that can present diagnostic and therapeutic difficulty because of their anatomic location and the different tissue types and etiology. Although the diagnosis and management of these tumors has evolved in recent years, several points still to be addressed in order to improve perioperative diagnosis and treatment. In the upcoming we will try to highlight some controversial points; the pre-operative biopsies, neoadjuvant therapy, the necessity of surgery and the role of minimally invasive surgeries of presacral tumors.


RESUMO Tumores pré-sacrais são lesões raras do espaço retrorretal que podem trazer dificuldades diagnósticas e terapêuticas por causa de sua localização anatômica e também pelos diferentes tipos de tecidos e etiologia. Embora nos últimos anos o diagnóstico e tratamento desses tumores tenham evoluído, diversos pontos ainda devem ser estudados com vistas à melhora do diagnóstico e tratamento no perioperatório. Mais adiante, tentaremos esclarecer alguns pontos controversos; biópsias pré-operatórias, terapia neoadjuvante, a necessidade de cirurgia e o papel das cirurgias minimamente invasivas para os tumores pré-sacrais.


Assuntos
Humanos , Região Sacrococcígea/anormalidades , Região Sacrococcígea/patologia , Biópsia , Procedimentos Cirúrgicos Minimamente Invasivos , Terapia Neoadjuvante , Período Pré-Operatório
17.
Rev. guatemalteca cir ; 23(1): [83-90], ene-dic,2017. ilus
Artigo em Espanhol | LILACS | ID: biblio-884894

RESUMO

El teratoma sacrococcígeo es el teratoma más común en los recién nacidos, con predominio en el sexo femenino. Se presenta el manejo de un neonato de 5 días de vida(AU)


Sacrococcygeal teratoma is the most common teratoma in newborn, predominantly in female sex. A case of a 5 day old newborn is presented(AU)


Assuntos
Humanos , Região Sacrococcígea/anormalidades , Teratoma/cirurgia
18.
Rev. cuba. obstet. ginecol ; 43(4): 77-83, oct.-dic. 2017. ilus
Artigo em Espanhol | CUMED | ID: cum-73576

RESUMO

El Síndrome de Currarino se define como la presencia de una tríada característica que asocia: estenosis anal, malformación sacrococcígea y masa presacra. La escasa sintomatología, caracterizada además por su inespecificidad, provoca que en muchas ocasiones el diagnóstico se realice durante la edad adulta y pueda confundirse con patologías ginecológicas, de origen predominantemente oncológico. El diagnóstico mediante pruebas de imagen, se realiza fundamentalmente a través de la resonancia magnética nuclear. La extirpación quirúrgica de la masa presacra unida al tratamiento sintomático del resto de la triada son la base terapéutica de esta infrecuente patología. Presentamos el caso de una paciente de 20 años de edad con estreñimiento crónico y dolor abdominal inespecífico. Es enviada al Servicio de Ginecología por la presencia de una masa de gran tamaño que se supone de origen anexial. Tras el estudio exhaustivo de dicha paciente, se llegó a la conclusión diagnóstica de que dicha tumoración corresponde a un meningocele, asociado a agenesia parcial sacra y estenosis anal; tríada que define al Síndrome de Currarino(AU)


Currarino Syndrome is defined as the presence of a characteristic triad that associates anal stricture, sacrococcygeal malformation and presacral mass defines this syndrome. The scarce symptomology, also characterized by nonspecific symptoms, conditions that in many cases the diagnosis is made in adulthood and can be confused with gynecological pathologies. The diagnosis is made by imaging tests, fundamentally the NMR (nuclear magnetic resonance). The main treatment is the surgical excision of the mass presacra together with the symptomatic treatment of the rest of symptoms. We present the case of a 20-year-old patient with chronic constipation and abdominal pain that is referred to Gynecology due to the presence of a mass that is supposed to be adnexal. After the study of this patient is diagnosed a meningocele, associated with partial sacral agenesis and anal stricture, triad that defines Currarino Syndrome(AU)


Assuntos
Humanos , Feminino , Adulto , Região Sacrococcígea/anormalidades , Malformações Anorretais/cirurgia , Meningocele/cirurgia , Sacro/anormalidades
19.
Birth Defects Res ; 109(17): 1390-1392, 2017 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-28990356

RESUMO

A 54-year-old male presented with a sudden burning sensation during urination and left flank pain. Apart from having congenital facial palsy and malformation of the inner right ear that was linked to thalidomide embryopathy, the patient has always been in good health. Urine examination showed the presence of a urinary tract infection. An abdominal ultrasound revealed a large cyst in the lower abdomen, which on MRI corresponded to a large anterior sacral meningocele (ASM) with sacral agenesis at S1/S2. After antibiotic treatment and the spontaneous passage of a kidney stone, the symptoms resolved. This suggests that the patient's acute symptoms were caused by the urolithiasis and not the ASM. Thalidomide is teratogenic between days 17 and 30 after conception. The neural tube closes between days 20 and 36, therefore, thalidomide embryopathy was the possible cause of ASM in this patient. Birth Defects Research 109:1390-1392, 2017.© 2017 Wiley Periodicals, Inc.


Assuntos
Anormalidades Múltiplas/induzido quimicamente , Doenças Fetais/induzido quimicamente , Meningocele/induzido quimicamente , Região Sacrococcígea/anormalidades , Talidomida/efeitos adversos , Anormalidades Múltiplas/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Meningocele/diagnóstico por imagem , Pessoa de Meia-Idade , Região Sacrococcígea/diagnóstico por imagem , Tomografia Computadorizada por Raios X
20.
J Neurosurg Pediatr ; 20(3): 289-297, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28686126

RESUMO

OBJECTIVE Sacrococcygeal dimples in neonates and infants are of uncertain pathological import. Previously they were believed to be rarely associated with intraspinal anomalies. Recent studies using MRI, however, revealed that 6%-7% of pediatric cases of sacrococcygeal dimples were associated with anatomical tethered spinal cord (TSC). Because the prevalence of tethered cord syndrome is still unclear, there is no consensus among pediatric neurosurgeons on the management of children with sacrococcygeal dimples. The authors performed an analysis of MRI and urodynamic studies to validate their management strategy for pediatric cases of sacrococcygeal dimples. METHODS A total of 103 Japanese children (49 male and 54 female, median age 4 months, range 8 days-83 months) with sacrococcygeal dimples who were referred to the Division of Pediatric Neurosurgery between 2013 and 2015 were included in this study. The lumbosacral region of all the patients was investigated using MRI. Anatomical TSC was defined as a condition in which the caudal end of the conus medullaris is lower than the inferior border of the L2-3 intervertebral disc. Patients with minor spinal anomalies (e.g., anatomical TSC, filum lipoma, thickened filum, or filar cyst) underwent further urodynamic studies to ascertain the presence of neurogenic bladder (NGB). In this study, the presence of NGB without anatomical TSC but with other minor spinal anomalies was defined as "functional TSC." The prevalence of anatomical and functional TSC was investigated. The association of the following cutaneous findings with spinal anomalies was also assessed: 1) depth of the dimple, 2) deviation of the gluteal fold, and 3) other skin abnormalities (e.g., discoloration, angioma, or abnormal hair). RESULTS The children were classified into 4 groups: Group 1, patients with anatomical TSC; Group 2, patients with functional TSC; Group 3, patients without anatomical or functional TSC but with other minor spinal anomalies; and Group 4, patients with no spinal anomaly. There were 6 patients (5.8%) in Group 1, 8 patients (7.8%) in Group 2, 10 patients (9.7%) in Group 3, and 79 patients (76.7%) in Group 4. Twenty-four patients (23.3%; Groups 1, 2, and 3) showed MRI abnormalities, including filum lipoma (14 cases), filar cysts (5 cases), thickened filum (2 cases), and anatomical TSC without other spinal anomalies (3 cases). Untethering of the spinal cord was indicated for 14 patients (13.6%; Groups 1 and 2) with anatomical and functional TSCs. Preoperative NGB was found in 12 patients and improved postoperatively in 7 (58.3%). None of the associated lumbosacral skin findings predicted the presence of underlying spinal anomalies. CONCLUSIONS The prevalence of tethered cord syndrome among children with sacrococcygeal dimples was, for the first time, revealed to be higher than previously thought. MRI and supplemental urodynamic studies may be indicated for children with sacrococcygeal dimples to identify patients with symptomatic TSC.


Assuntos
Imagem por Ressonância Magnética , Região Sacrococcígea/anormalidades , Anormalidades da Pele , Urodinâmica , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/fisiopatologia , Defeitos do Tubo Neural/cirurgia , Prevalência , Região Sacrococcígea/diagnóstico por imagem , Região Sacrococcígea/patologia , Região Sacrococcígea/cirurgia , Anormalidades da Pele/patologia
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