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1.
Autops. Case Rep ; 12: e2021347, 2022. graf
Article in English | LILACS | ID: biblio-1355724

ABSTRACT

Fetus in fetu (FIF) is a rare entity in which a malformed vertebrate fetus is incorporated within its twin. This entity should be differentiated from a teratoma, which has more malignant potential. We describe a neonate with a heterogeneous calcified suprarenal mass. The aspiration cytology revealed a heterogeneous cell population with spindle cells and small round blue cells. Operative and histopathologic examination showed features consistent with a fetus in fetu. This case report describes a rare entity and discusses its clinical presentation, cytological features on fine-needle aspiration, and the difficulties posed in its differentiation from a teratoma.


Subject(s)
Humans , Female , Infant, Newborn , Teratoma/complications , Adrenal Glands , Biopsy, Fine-Needle , Fetus/abnormalities , Congenital Abnormalities/pathology
2.
Pesqui. bras. odontopediatria clín. integr ; 22: e210085, 2022. tab, graf
Article in English | LILACS, BBO | ID: biblio-1386809

ABSTRACT

Abstract Objective: To assess the effect of the three types of unilateral cleft lip (UCL) [cleft lip only, cleft lip and alveolus, and cleft lip alveolus and palate] on the outcome of the repair. Material and Methods: This study was a case series of effect of types of UCL on the outcome of the repair. Fifteen subjects each were in three UCL phenotypes groups. Evaluation of the scar, lip, and nose was done qualitatively by both parents/guardians and professionals using a modified form of the criteria described by Christofides et al. (2006). Results: In the assessment of the surgical scar, the parents found a difference between the three types of cleft in terms of texture, shape, and width of the scar and presence of columella deviation. The professional assessors, however, only found the three types of cleft to be different in the presence of alar flattening. Conclusion: Differences truly exist in the outcome of surgical repair of the three types of unilateral cleft lip, especially in the aesthetics of the nose and in the width and shape of the residual lip scar. Thus, it is important to consider this in the assessment of UCL repair because putting the subtypes together might have a negative impact on the assessment.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Surgical Procedures, Operative , Congenital Abnormalities/pathology , Cleft Lip/surgery , Cleft Palate/surgery , Chi-Square Distribution , Prospective Studies , Cleft Lip/pathology
3.
Arq. bras. med. vet. zootec. (Online) ; 73(5): 1105-1110, Sept.-Oct. 2021. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1345268

ABSTRACT

The aim of this work was to report the occurrence of dicephalus iniodymus monauchenos in a Nellore newborn. A three-days old calf, from in vitro production, with duplication of the head and a history of cesarean birth was attended. On physical examination, the dicephalus, iniodymus and monauchenos, which were almost the same size and shape, had four eyes and four ears. Computed tomography showed the presence of two skulls fused with a common occipital foramen, two nasopharynxes, oropharynxes with the presence of a cleft lip and a cleft palate in the right head, which continued in a single esophagus and a single trachea. At necropsy, the presence of duplication of the cerebrum and cerebellum was observed, with union of the parts in the region of the trapezoid body of the brainstem and continued as a single spinal cord. This study characterizes the clinical, tomographic, and necropsy findings of a dicephalus Nelore neonate.(AU)


O objetivo deste trabalho foi relatar a ocorrência de Dicephalus Iniodymus Monauchenos em um neonato da raça Nelore de produção in vitro. Foi atendida uma fêmea bovina, de três dias de idade, com duplicação das cabeças e histórico de nascimento por meio de cesariana. No exame físico, observou-se a dicefalia, Iniodymus e Monauchenos, apresentando quatro olhos e quatro orelhas. Na tomografia computadorizada, constatou-se a presença de dois crânios fundidos com um forame occipital comum, duas nasofaringes, orofaringes com presença de lábio leporino e fenda palatina na cabeça direita, que continuavam em um único esôfago e em uma única traqueia. Na necropsia, observou-se a presença de duplicação do encéfalo e cerebelo, com união das partes na região do corpo trapezoide do tronco encefálico, que continuavam como uma única medula espinhal. Este estudo caracteriza os achados clínicos, tomográficos e de necropsia de um neonato Nelore dicefálico.(AU)


Subject(s)
Animals , Cattle , Congenital Abnormalities/diagnosis , Congenital Abnormalities/pathology , Congenital Abnormalities/diagnostic imaging , Cattle/abnormalities , Fertilization in Vitro/veterinary , Cleft Lip/veterinary , Cleft Palate/veterinary
4.
Rev. méd. Hosp. José Carrasco Arteaga ; 13(1): 46-50, 15/03/2021. Ilustraciones
Article in Spanish | LILACS | ID: biblio-1293288

ABSTRACT

INTRODUCCIÓN: Los encefaloceles son una anomalía congénita rara, que afecta a 1 de cada 5 000 nacidos vivos. Un meningohidroencefalocele es la herniación de meninges, ventrículos y parte del encéfalo a través de un defecto congénito en el cráneo. El pronóstico de los recién nacidos con encefalocele depende de varios factores. La corta edad y las anomalías congénitas asociadas en estos pacientes plantean desafíos en el diagnóstico y manejo. CASO CLÍNICO: Recién nacido masculino, nacido a las 37 semanas de gestación, por cesárea de emergencia por parto en fase latente, presentado una masa de gran tamaño, sobre la región parieto-occipital, de bordes lobulados, irregulares, cubierta en parte por cuero cabelludo, y en otras zonas de un tono rojo violáceo. El neonato fue poco reactivo, con tono disminuido, llanto ausente. EVOLUCIÓN: Tras valoración del caso por especialistas, debido al importante defecto de la calota craneal y las anomalías estructurales cerebrales, el paciente no fue candidato para tratamiento quirúrgico. Neonato fue dado de alta con expectativa de vida reducida, para recibir cuidados en el hogar. CONCLUSIÓN: El meningohidroencefalocele gigante es un defecto del tubo neural poco frecuente. El manejo de las encefaloceles puede ser complicado y debe ser individualizado y dependerá de las estructuras anatómicas comprometidas. Si bien en este caso el pronóstico fue malo, siempre es necesario el trabajo multidisciplinario para un adecuado manejo.


BACKGROUND: Encephaloceles are a rare congenital anomaly, affecting 1 in 5 000 live births.A meningohydroencephalocele is the herniation of the meninges, ventricles, and part of the brain through a congenital defect in the skull. The prognosis of newborns depends on several factors. The young age and the associated congenital anomalies in these patients contribute to the diagnostic and treatment challenge. CASE REPORT: Male newborn, born at 37 weeks of gestation, by emergency C-section due to latent labor, presenting a large mass over the parieto-occipital region, with lobed, irregular edges, partially covered by the scalp, and in other areas a purplish red tone. The newborn was no very reactive, had decreased tone, absent crying. EVOLUTION: After specialist's evaluation, due to the significant defect in the cranial shell and the structural brain abnormalities, the patient was not a candidate for surgical treatment. The newborn was discharged with a reduced life expectancy, to receive care at home. CONCLUSION: giant meningohydroencephalocele is a rare neural tube defect. The management of encephaloceles can be complicated and must be individualized, and will depend on the anatomical structures involved. Although in this case the prognosis was bad, multidisciplinary work is always necessary for proper management.


Subject(s)
Humans , Male , Infant, Newborn , Congenital Abnormalities/pathology , Encephalocele/diagnostic imaging , Congenital Abnormalities/mortality
5.
Prensa méd. argent ; 107(1): 13-17, 20210000. fig
Article in Spanish | LILACS, BINACIS | ID: biblio-1362062

ABSTRACT

La agenesia de la vesícula biliar (AVB) es una entidad congénita rara. La mayoría de los pacientes, permanecen asintomáticos, mientras que los que presentan síntomas informan síntomas que imitan el cólico biliar. La evaluación inicial para la sospecha de patología de la vesícula biliar, como la ecografía del cuadrante superior derecho, Puede ser engañosa o no concluyente. En consecuencia, algunos pacientes son finalmente diagnosticados intra-operatoriamente. Por lo tanto, deben mantener la AVB como un diagnóstico diferencial y deben realizarse como la colangiopancreatografía por resonancia magnética (CPRMN) cuando otras pruebas no sean concluyentes. Presentamos una mujer de 39 años que presento síntomas crónicos compatibles con cólico biliar y una ecografía equívoca informada como escleroatrófica con colelitiasis. Se le realizó laparoscopia durante la cual se constató la ausencia de vesícula biliar. La CPRM posoperatoria confirmó el diagnóstico de AG.


Gallbladder agenesis (GA) is a rare congenital entity. Most patients remain asymptomatic, while those with symptoms report symptoms that mimic bile colic. Initial evaluation for suspected gallbladder pathology, such as ultrasound of the right upper quadrant, May be misleading or inconclusive. As a result, some patients are eventually diagnosed intra-operatively. Therefore, GA should be maintained as a differential diagnosis and should be performed as magnetic resonance cholangiopancreatography (MRI) when other tests are inconclusive. We present a 39-year-old woman who has chronic symptoms compatible with biliary colic and an equivocal ultrasound reported as scleroatrofic with cholelithiasis. Laparoscopy was performed during which the absence of gallbladder was found. Postoperative CPRM confirmed the diagnosis of GA.


Subject(s)
Humans , Female , Adult , Congenital Abnormalities/pathology , Biliary Tract/abnormalities , Blister/pathology , Laparoscopy , Cholangiopancreatography, Magnetic Resonance , Diagnosis, Differential
6.
Autops. Case Rep ; 11: e2021327, 2021. graf
Article in English | LILACS | ID: biblio-1339246

ABSTRACT

Thymomas are a heterogeneous group of tumors arising from the epithelium of the thymus. They are categorized by the proportion of neoplastic epithelia to lymphocytes and by the degree of cytologic atypia. Thymomas constitute 0.2-1.5% of all malignancies and nearly all occur in patients over 20 years. We reviewed the available literature and found less than 50 cases of thymoma reported in children (<18 years of age), the youngest being 4 years old, and no cases in newborns. They represent less than 1% of all mediastinal tumors in children. Due to the limited number of cases in the pediatric population, the diagnosis and treatment in this population is extremely challenging. Thymomas in all age groups may be associated with paraneoplastic syndromes, being myasthenia gravis the most common, which is associated with a worse prognosis in the pediatric population. We present the first case of a newborn infant with congenital thymoma. This case demonstrates a rare tumor in an unusual age group and emphasizes the importance of multidisciplinary teamwork in the decision-making and management of this condition.


Subject(s)
Humans , Male , Infant, Newborn , Thymoma/congenital , Thymus Neoplasms/congenital , Thymus Gland , Thymus Hyperplasia , Congenital Abnormalities/pathology , Myasthenia Gravis
8.
Int. braz. j. urol ; 44(1): 86-94, Jan.-Feb. 2018. tab, graf
Article in English | LILACS | ID: biblio-892945

ABSTRACT

ABSTRACT Purpose Congenital and acquired pathologies of the seminal vesicles (SV) are rare diseases. The diagnosis of SV anomalies is frequently delayed or wrong due to the rarity of these diseases and the lack of adequate evaluation of SV pathology. For this reason, we aimed to comprehensively evaluate SV pathologies and accompanying genitourinary system abnormalities. Materials and Methods Between March 2012 and December 2015, 1455 male patients with different provisional diagnosis underwent MRI. Congenital and acquired pathology of the SV was identified in 42 of these patients. The patients were categorized according to their SV pathologies. The patients were analyzed in terms of genitourinary system findings associated with SV pathologies. Results SV pathologies were accompanied by other genitourinary system findings. Congenital SV pathologies were bilateral or predominantly in the left SV. Patients with bilateral SV hypoplasia were diagnosed at an earlier age compared to patients with unilateral SV agenesis. There was a significant association between abnormal signal intensity in the SV and benign prostate hypertrophy (BPH) and patient age. Conclusion SV pathologies are rare diseases of the genitourinary system. The association between seminal vesicle pathology and other genitourinary system diseases requires complete genitourinary system evaluation that includes the seminal vesicles.


Subject(s)
Humans , Male , Adult , Aged , Young Adult , Seminal Vesicles/abnormalities , Seminal Vesicles/diagnostic imaging , Urologic Diseases/diagnostic imaging , Seminal Vesicles/pathology , Urologic Diseases/pathology , Congenital Abnormalities/pathology , Congenital Abnormalities/diagnostic imaging , Magnetic Resonance Imaging , Middle Aged
9.
Int. j. morphol ; 35(2): 500-505, June 2017. ilus
Article in English | LILACS | ID: biblio-893011

ABSTRACT

Halphabarol, the active principle of Proximol, is the most potent of the four antispasmodics present in the national desert weed Cymbopogon proximus or ''Halfa Bar''. Halphabarol is of great value for the management of renal colic and in the expulsion of ureteric calculi as it causes dilation of the ureter below the site of calculus while active propulsion is maintained. Evaluation the congenital malformation of proximol in pregnant albino rats during gestation period. The virgin female rats were mated with male rats and the pregnant rats were orally administered a human equivalent dose (0.05 mg/kg) of Proximol from 5th-20th gestation day. At day 20 of pregnancy, all rats were anesthetized to obtained maternal and fetal data. The treatment group displayed some disorders, which can be summarized as growth retardation, external anomalies, embryonic resorption, and skeletal malformation. We concluded that the oral administration of Proximol resulted in embryonic abnormalities and skeletal malformations.


Halphabarol, el principio activo de Proximol, es el más potente de los cuatro antiespasmódicos presentes en la maleza desértica nacional "Cymbopogon proximus" o "Halfa Bar". Halphabarol es de gran utilidad para el manejo de cólicos renales y para la expulsión de cálculos ureterales, ya que causa la dilatación del uréter por debajo del sitio de cálculo mientras se mantiene el mecanismo de propulsión activa. Se realizó una evaluación de la malformación congénita por Proximol en ratas albinas gestantes durante el período de gestación. Las ratas fueron apareadas y a las ratas gestantes se les administró oralmente, del 5 al 20 día de gestación, una dosis de Proximol (0,05 mg / kg), equivalente a la dosis humana. Al día 20 de gestación, todas las ratas fueron anestesiadas para obtener datos maternos y fetales. El grupo de tratamiento mostró algunos trastornos, que pueden resumirse como retraso del crecimiento, anomalías externas, resorción embrionaria y malformación esquelética. Concluimos que la administración oral de Proximol resultó en anomalías embrionarias y malformaciones esqueléticas.


Subject(s)
Animals , Female , Pregnancy , Rats , Congenital Abnormalities/pathology , Cymbopogon , Parasympatholytics/toxicity , Plants, Medicinal/toxicity , Congenital Abnormalities/etiology , Fetus/drug effects , Fetus/pathology , Pregnancy, Animal/drug effects
10.
Rev. bras. cir. plást ; 32(1): 145-147, 2017. ilus
Article in English, Portuguese | LILACS | ID: biblio-832693

ABSTRACT

Descrita no século XIX, a deformidade auricular de Stahl consiste em uma má formação auricular rara, caracterizada por hipoplasia da raiz da anti-hélice com o alargamento de sua base e uma terceira raiz da anti-hélice conectando-a à parte posterior da hélice, deformando a porção posterossuperior do pavilhão auditivo. A correção cirúrgica é o tratamento definitivo, porém, pela diversidade de apresentações clínicas, não há uma técnica padrão para todos os casos. O método descrito neste relato é mais uma opção de tratamento e consiste na ressecção da terceira cruz e confecção da raiz superior da anti-hélice.


Stahl's ear deformity was first described in the 19th century and it consists of a rare auricular deformity characterized by hypoplasia of the antihelix crus with enlargement of its base and a third crus of the antihelix connected to posterior portion of helix crus, which deforms the posterolateral wall of the external auditory canal. Reconstructive surgery is the definitive treatment, however, because of the diversity of clinical presentations, no standard technique exist for all cases. The method described in this report is another treatment option and entails the resection of the third crus and reconstruction of superior crus of the antihelix.


Subject(s)
Humans , Male , Adolescent , History, 21st Century , Congenital Abnormalities , Plastic Surgery Procedures , Ear , Ear Deformities, Acquired , Congenital Abnormalities/surgery , Congenital Abnormalities/pathology , Plastic Surgery Procedures/methods , Ear/abnormalities , Ear/surgery , Ear Deformities, Acquired/surgery
11.
Rev. bras. cir. plást ; 31(2): 278-280, 2016. ilus
Article in English, Portuguese | LILACS | ID: biblio-1576

ABSTRACT

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.


INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.


Subject(s)
Humans , Female , Child, Preschool , Child , History, 21st Century , Surgical Procedures, Operative , Congenital Abnormalities , Hand Deformities, Congenital , Foot Deformities, Acquired , Toes , Retrospective Studies , Limb Deformities, Congenital , Rare Diseases , Fingers , Amputation, Surgical , Surgical Procedures, Operative/methods , Congenital Abnormalities/surgery , Congenital Abnormalities/pathology , Hand Deformities, Congenital/surgery , Foot Deformities, Acquired/surgery , Foot Deformities, Acquired/pathology , Hand Deformities, Acquired/pathology , Toes/abnormalities , Toes/surgery , Limb Deformities, Congenital/surgery , Limb Deformities, Congenital/pathology , Rare Diseases/congenital , Rare Diseases/pathology , Fingers/abnormalities , Fingers/surgery , Amputation, Surgical/adverse effects , Amputation, Surgical/methods
13.
Indian J Pathol Microbiol ; 2012 Apr-Jun 55(2): 242-244
Article in English | IMSEAR | ID: sea-142233

ABSTRACT

Lipofibromatosis is a rare tumor of infancy, which has been reported about 10 years ago, and since then very few reports have been published. This tumor has been reported in association with congenital anomalies such as macrosyndactyly, but there is no report of multiple congenital anomalies with lipofibromatosis in the English literature as far as our knowledge goes. Herein, we report a case of this tumor associated with syndactyly, bilateral complete cleft lip and palate, trigonocephaly, and atrial septal defect.


Subject(s)
Congenital Abnormalities/diagnosis , Congenital Abnormalities/pathology , Face/pathology , Fibroma/complications , Fibroma/diagnosis , Fibroma/pathology , Foot/pathology , Head/diagnostic imaging , Histocytochemistry , Humans , Infant , Lipomatosis/complications , Lipomatosis/diagnosis , Lipomatosis/pathology , Male , Microscopy , Tomography, X-Ray Computed
14.
Article in English | IMSEAR | ID: sea-143467

ABSTRACT

The Mayer- Rokitansky-Küster-Hauser (MRKH) syndrome has been known to be associated with psychological abnormalities. However, hardly any case has been reported of suicide by an individual suffering from such syndrome, as per the author‘s knowledge. A 19 year old female was brought to Safdarjung hospital mortuary for post mortem examination. After eliciting a detailed history from the relatives of the deceased, going through the previous investigation reports and after post mortem examination it was confirmed that the deceased was suffering from MRKH syndrome. The mental stress associated with the diseased state resulted in the female committing suicide by ingesting some unknown substance. Emotional support forms the basis of treatment in such cases. Surgical treatment is also employed in some cases so as to help them lead normal sexual life. This paper deals with the pathology and psychological profile of the patient suffering from this syndrome and the therapeutic options that may be considered to ameliorate the stress associated with the disease.


Subject(s)
46, XX Disorders of Sex Development/pathology , 46, XX Disorders of Sex Development/psychology , 46, XX Disorders of Sex Development/therapy , Adolescent , Congenital Abnormalities/pathology , Congenital Abnormalities/psychology , Congenital Abnormalities/therapy , Fatal Outcome , Female , Humans , India , Mullerian Ducts/abnormalities , Psychotic Disorders/etiology , Suicide
15.
Av. cardiol ; 31(2): 108-115, jun. 2011. ilus, tab
Article in Spanish | LILACS | ID: lil-607760

ABSTRACT

El cierre percutáneo ha aparecido como una alternativa en el tratamiento de la persistencia del conducto arterioso. Presentamos la experiencia en un único centro (Centro Cardiovascular Regional-ASCARDIO-Lara-Venezuela) en el cierre percutáneo de 250 pacientes portadores de la persistencia del conducto arterioso desde octubre 1998 a agosto 2010. La indicación de cierre fue persistencia del conducto arterioso con soplo, sobrecarga de volumen de cavidades izquierdas, sin o con HAP leve a moderada. Se utilizaron 4 tipos de dispositivos: 190 casos con 3 tipos de Amplatzer Duct Ocludder (Tipo 1: 183 casos, Tipo Angulado: 2 casos y Tipo 2: 5 casos), 2 casos con Gianturco coil, 35 casos con Flipper Coil y 23 casos con Duct/Nit-Oclud. En forma global la tasa de éxito de cierre fue 99,6% (249/250), siendo para los 3 dispositivos Amplatzer de 99,4% (189/190), 100% para dispositivo de Gianturco coil (2/2), 100% para dispositivo de Flipper coil (35/35) y 100% para dispositivos Duct/Nit-oclud (23/23), sin shunt residual a las 24 h en 98,8% (247/250) de los casos. Hubo una embolizaciónde dispositivo de Amplatzer tipo 1(1/250=0,4%) que ameritó cirugía y tasa general de complicaciones (menores) fue por debajo del 1% (0,8%), con cero mortalidad. El cierre percutáneo de la persistencia del conducto arterioso ha resultado ser una técnica segura y eficaz con morbilidad mínima y mortalidad cero, en el CCR-Ascardio.


Percutaneous closure has been a new alternative of treatment of persistent ductus arteriosus (PDA). We present our experience in a only Center (Regional Cardiovascular Center-ASCARDIO-Lara-Venezuela) with percutaneous closure in 250 patients with this congenital pathology (isolated persistent ductus arteriosus) since October 1998 until August 2010. Indication for percutaneous closure was all persistent ductus arteriosus with murmur, Diastolic overload of left cavities, without or mild to moderate Pulmonary Hypertension. Four type of devices were used: 190 cases with three types of Amplatzer Duct Ocludder (Type 1: 183 cases, Type angulated or asymmetric: 2 cases and Type 2: 5 cases), Gianturco coil in 2 cases, Flipper coil in 35 cases and Duct/Nit Oclud were used in 23 cases. Overall successful closure rate was 99.6% (249/250), with no 24 hours residual shunt residual in 98.8% (247/250) of cases. According with three types of amplatzer devices, successful closure rate were 99.4% (189/190), 100% for Gianturco coil 2/2, 100% for Flipper Coil (35/35) and 100% for Duct/Nit Oclud (23/23). There was one embolization of amplatzer device type 1(1/250=0.4%) and patient was sent for surgery, and minor complications was less than 1% (0,8%) with no mortality. We can conclude that percutaneous closure of persistent ductus arteriosus is a very safe and secure technique with very low minor complications and with no mortality.


Subject(s)
Humans , Male , Female , Administration, Cutaneous , Congenital Abnormalities/pathology , Congenital Abnormalities/therapy , Ductus Arteriosus , Cardiology
16.
Rev. AMRIGS ; 53(3): 226-230, jul.-set. 2009. tab
Article in Portuguese | LILACS | ID: lil-566953

ABSTRACT

Introdução: As malformações congênitas são todas as anomalias funcionais ou estruturais do desenvolvimento fetal decorrentes de fatores originados anteriormente ao nascimento, de causas genética, ambiental ou desconhecida e estão relacionadas com elevada morbi-mortalidade perinatal. Objetivo: Identificar a prevalência das malformações congênitas e de aspectos maternos e perinatais relacionados às deformidades. Metodologia: Estudo transversal, do tipo caso-controle, dos nascimentos ocorridos no Hospital Geral da Universidade de Caxias do Sul, no período de 1998 a 2007. Os dados foram armazenados no SPSS, versão 16.0. Foram utilizados teste T de Student e o teste de Mann-Whitney, com nível de significância estatística p<0,05. Resultados: Dentre os 14.351 nascimentos foram identificados 247 casos (1,7%) de recém-nascidos portadores de algum tipo de malformação congênita: geniturinárias (n=55), associação de malformações (n=53), sistema músculo-esquelético (n=45), sistema nervoso central (n=43), gastrintestinais (n=29) e cardiovasculares (n=22). Idade materna, diabete melito, cor da pele, intervalo interpartal, paridade e ocorrência de ameaça de interrupção precoce da gestação não apresentaram associação significativa com as MCs citadas. Via de parto, peso do concepto no nascimento, ocorrência de PIG, necessidade de tratamento em ambiente de intensivismo neonatal, apresentação pélvica, idade gestacional média, natimortalidade, oligodrâmnio e polidrâmnio associaram-se significativamente à presença do defeito congênito (p<0,001). Conclusão: As malformações congênitas de maior prevalência foram geniturinária e associação de malformações. Esta última condição e as malformações do sistema nervoso central estiveram mais associadas ao óbito perinatal.


Introduction: Congenital malformations (CMs) are all the functional or structural abnormalities of the fetal growth, resulting from prenatal factors of genetic, environmental or idiopathic etiology, and they are associated with high perinatal morbidity and mortality rates. Aim: To identify the prevalence of congenital malformations and maternal and perinatal features related to deformities. Methods: This is a transversal, case-control study of the births occurring in the General Hospital of the University of Caxias do Sul from 1998 to 2007. The data were analyzed using software SPSS, 16.0. A statistical analysis was carried out using Student’s t-test and Mann-Whitney’s test with significance at p<0.05. Results: Among 14.351 births, 247 cases (1.7%) of newborns with some type of congenital malformation were identified as follows: genitourinary (n=55), combined malformations (n=53), musculoskeletal system (n=45), central nervous system (n=43), gastrointestinal (n=29), and cardiovascular (n=22) malformations. Maternal age, diabetes mellitus, skin color, interparturition interval, parity, and occurrence of threat of early interruption of gestation, were not significantly associated with the mentioned CMs. Delivery route, birth weight, occurrence of SGA, need for neonatal intensive care, breech presentation, mean gestational age, stillbirth rate,oligohydramnios and polyhydramnios were significantly associated with the presence of congenital defects (p<0.001). Conclusion: The congenital alformations of higher prevalence were the genitourinary and the combined malformations. The latter and the central nervous system malformations were more associated with perinatal death.


Subject(s)
Humans , Male , Female , Infant, Newborn , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Congenital Abnormalities/etiology , Congenital Abnormalities/genetics , Congenital Abnormalities/mortality , Congenital Abnormalities/pathology , Cross-Sectional Studies , Perinatology/history , Perinatology/methods , Prenatal Care/methods
17.
CES med ; 22(2): 89-97, jul.-dic. 2008. ilus, graf
Article in Spanish | LILACS | ID: lil-565192

ABSTRACT

Se presenta un caso clínico de síndrome de Morquio o mucopolisacaridosis tipo IV, en una niña de 5 años que consulta al servicio de endocrinología pediátrica del Hospital Pablo Tabón Uribe, por talla baja y deformidades esqueléticas que iniciaron al año de edad. Inicialmente admitida con una impresión diagnóstica de raquitismo, pero al evaluar el caso en conjunto con el grupo de ortopedia infantil se confirma el diagnóstico por clínica, hallazgos radiológicos característicos y pruebas específicas para mucopolisacaridosis. Se revisan los principales aspectos clínicos y radiológicos de la enfermedad y el manejo actual.


We report a case of Morquio syndrome, or mucopolysaccharidosis type IV, in a girl of 5 years attending the pediatric endocrinology service at the Pablo Tobón Uribe Hospital, because of short stature and skeletal deformities that began in the first year of life. Initially admitted with a working diagnosis of raquitism, but reassessment of the case by the children's orthopedic group confirmed the diagnosis by clinical, specific serological tests and characteristical radiological findings specific for mucopolysaccharidosis. We review the clinical and radiological characteristics of the disease and current treatment options.


Subject(s)
Humans , Congenital Abnormalities/diagnosis , Congenital Abnormalities/genetics , Congenital Abnormalities/pathology , Mucopolysaccharidosis IV/classification , Mucopolysaccharidosis IV/diagnosis , Body Height , Child
18.
J Environ Biol ; 2008 Jan; 29(1): 135-7
Article in English | IMSEAR | ID: sea-113812

ABSTRACT

Several experiments have shown that ambient ultraviolet-B radiation (UV-B) has negative effects on the development of amphibians' embryos. We studied the effects of UV-B radiation on development, survival and frequency of deformity during egg development in the Natterjack toad (Bufo calamita) from a semiarid region of Lleida (Catalonia, Spain). Eggs exposed to ambient levels of UV-B and those protected from UV-B with a filter exhibited similar developmental rate, mortality rate and frequency of developmental anomalies. These experiments show that eggs of Bufo calamita of the studied population are able to develop normally during embryonic period when exposed to current high levels of UV-B observed in Catalonia. These results will be used as reference for future studies on geographic variation in UV-B tolerance in this species.


Subject(s)
Animals , Congenital Abnormalities/pathology , Desert Climate , Ovum/growth & development , Population Dynamics , Spain , Survival Analysis , Time Factors , Ultraviolet Rays
19.
Rev. argent. cir. plást ; 14(2): 70-80, 2008. ilus
Article in Spanish | LILACS | ID: lil-522013

ABSTRACT

Las fisuras labionasopalatinas (FLNP) se encuentran entre los defectos congénitos craneomaxilofaciales más frecuentes. Alrededor de 1 en 1.000 recién nacidos presentan fisura de paladar primario (P1) con o sin paladar secundario (P2) y son más frecuentes en varones. El paladar secundario es menos común (1 en 2.500) y predomina en niñas. El 35% padece defectos congénitos asociaados. El objetivo del trabajo es valorar con qué frecuencia ingresan niños portadores de FLNP a la Sala de Genética. Evaluar la edad de derivación , sexo, tipo de isuras, agregación familiar, teratógenos en el embarazo, defectos congénitos asociados (DC), ingesta de ácido fólico pregestacional y patrón hereditario, entre otras.


Subject(s)
Humans , Child , Data Analysis/analysis , Data Analysis/methods , Congenital Abnormalities/surgery , Congenital Abnormalities/pathology , Cleft Palate , Cleft Lip/pathology , Risk Factors
20.
Journal of Veterinary Science ; : 429-431, 2008.
Article in English | WPRIM | ID: wpr-65383

ABSTRACT

Congenital malformations with multiple anomalies have been described infrequently in the veterinary literature. A stillborn male crossbred lamb with diprosopus, craniorachischisis, and arthrogryposis was examined macroscopically and histopathologically in this study. The left head was smaller than the right head. Micrencephaly, agnathia, and a rudimentary tongue, which was adherent to the palate, were present in the left head. Micrencephaly, brachygnathia superior, and cleft palate were present in the right head. Cerebellar agenesis and spinal cord hypoplasia were observed. The cerebrums and the spinal cord were covered with a tapering membranous structure. Neural and dermal tissues were noted to intervene upon microscopic examination of this structure. Disorganization of neurons was observed in both cerebrums, though it was more severe in the left one. This case demonstrates many congenital defects occurring together in a lamb.


Subject(s)
Animals , Male , Congenital Abnormalities/pathology , Sheep , Sheep Diseases/congenital , Stillbirth
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