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【Objective】 The purpose of this study was to investigate the prevalence status of neonatal congenital heart disease (CHD) in Ningbo City, Zhejiang Province from 2017 to 2021, and to analyze the influencing factors, so as to provide reference for preventing the risk of CHD and reduce the prevalence of CHD. 【Methods】 Using cross-sectional survey method, the neonatal data from March 2017 to December 2021 were captured from Zhenjiang Neonatal Disease Screening Center, and were analyzed by linear trend chi-square test; binary Logistic regression was used to analyze the influencing factors of CHD. 【Results】 A total of 13 156 newborns screened positive for CHD in Ningbo, Zhejiang Province, with CHD confirmed in 6 300 cases. Among these, 3 066 cases were boys (48.7%) and 3 234 cases were girls (51.3%). The prevalence rates of neonatal CHD in Ningbo city for the years 2017, 2018, 2019, 2020, and 2021 were 2.07%, 1.10%, 2.00%, 2.04% and 1.08%, respectively, with an overall prevalence from 2017 to 2021 of 1.69%. The chi-square test for the linear trend indicated a decreasing prevalence of neonatal CHD over time(χ2=178.518,P<0.001). Multivariate analysis showed that maternal age [36 to 45 years(OR=1.24), >45 years(OR=1.66)], male infants (OR=1.26), premature birth [<32 weeks (OR=1.13), 32 - 36 weeks(OR=1.54)], and being a second birth (OR=2.56) were independent risk factors for the development of CHD (P<0.05). 【Conclusions】 The prevalence of CHD in Ningbo, Zhejiang Province is higher than that of CHD in China and other cities of Zhejiang Province. Although the prevalence showed a decreasing trend over time, targeted prevention and control measures need to be implemented to reduce the prevalence of CHD.
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Abstract Background: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. Methods: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. Results: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. Conclusions: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.
Resumen Introducción: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. Métodos: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. Resultados: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. Conclusiones: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.
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Sirenomelia also called mermaid syndrome is a congenital, rare, lethal, multisystemic human malformation of unknown etiology. The characteristic feature of sirenomelia is the fusion of the lower limbs, resulting in the appearance of a mermaid’s tail, and thus the name “mermaid syndrome.” This condition is also characterized by various severe urogenital abnormalities and the presence of a singular umbilical cord blood vessel, and it is more common in infants of diabetic mothers and in monozygotic twins. The incidence is around 1 in 60,000–70,000 pregnancies. The majority of affected fetuses are stillborn, whereas the rest of the live-born die in the early neonatal period due to complications of the gastrointestinal and urogenital systems. We are reporting a case of sirenomelia in a neonate born to an unregistered multipara mother. The baby had perinatal asphyxia, sirenomelia, dextrocardia, low set ears, lymphatic malformation, bilateral renal agenesis, absent external genitalia and anus, single umbilical artery, and congenital corneal clouding. There was no antenatal ultrasonography done and the baby died at 6 h of life.
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Objective@# To explore the preventive effect of nicotinamide (NAM) on cleft palate induced by all-trans retinoic acid (RA), to provide research evidence for the prevention of cleft palate. @*Methods @#The mouse cleft palate model was induced by intragastric administration of 70 mg/kg all-trans retinoic acid at embryonic day 10.5 (E10.5) in the control group. The mouse cleft palate model was treated by caudal vein injection of 20 mg/kg NAM at E8.5 to E13.5 in the experimental group (1). The cleft palate model was treated by caudal vein injection of 40 mg/kg NAM at E8.5-E13.5 in the experimental group (2). The cleft palate of fetal rats was observed by laparotomy on E16.5 and statistically analyzed. Annexin V-FITC/PI double staining was used to detect the apoptosis of mouse embryonic palatal mesenchyme (MEPM) cells treated with RA 1 μmol/L (RA 1 group), NAM 200 μmol/L (NAM 200 group), and both NAM 200 μmol/L and RA 1 μmol/L (NAM 200+RA 1 group) for 24 hours by flow cytometry and the apoptosis rate in groups were compared. Culture without RA or NAM was used as a control. @*Results @# The cleft palate rate in the control group was 98%. The cleft palate rate in experimental group (1) was 87%. There was no significant difference between groups (P>0.05). The cleft palate rate in the experimental group (2) was 63%, compared with the control group, there was a significant difference (P<0.01). The cell apoptosis rate was 16.53%±2.89% in the CONTROL group. The cell apoptosis rate was 22.9%±1.85% in the RA 1 group, which was a significant increase compared with the CONTROL group (P<0.01). The apoptotic rate of the NAM 200 group was 9.23%±1.39%, which was a significant decrease compared with NA 1 group (P<0.01). The apoptosis rate of the NAM 200+RA 1 group was 14.9%±7.67%, which was a significant decrease compared with the RA 1 group (P<0.01).@*Conclusion@#NAM can prevent cleft palate. 40 mg/kg nicotinamide during pregnancy is an effective concentration for the prevention of RA-induced cleft palate. The mechanism by which NAM prevents cleft palate may be that NAM inhibits RA-induced apoptosis of MEPM cells.
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Objective:To report the experience of using CT-guided cochlear implant surgery in difficult cases such as severe inner ear deformities and anatomical abnormalities, and to discuss the application value of intraoperative CT-assisted localization in difficult cases of cochlear implant surgery. Methods:Retrospectively analyzed the clinical data of 23 cases of difficult cochlear implant surgery cases completed by our team with the assistance of intraoperative CT, and collected their medical data, including preoperative imaging manifestations, surgical conditions, and intraoperative imaging images for evaluation. Results:During the study period, 23 difficult cases(27 ears) underwent cochlear implantation under the guidance of intraoperative CT, and 4 cases were bilaterally implanted. Including 6 cases of incomplete segmentation type Ⅰ(IP-Ⅰ), 1 case of incomplete segmentation type Ⅱ(IP-Ⅱ), 10 cases of incomplete segmentation type Ⅲ(IP-Ⅲ), 3 cases of common cavity deformity(CC) and 3 cases of cochlear ossification after meningitis. Facial nerve anatomy was abnormal in 9 cases, cerebrospinal fluid "blowout" was serious in 14 cases, electrode position was abnormal in 3 cases requiring intraoperative adjustment of electrode position, anatomical difficulties required intraoperative CT to assist in finding anatomical landmarks in 2 cases, and electrodes were not fully implanted in 3 cases. Conclusion:When faced with difficult cases with challenging and complex temporal bone anatomy, intraoperative CT can accurately evaluate the electrode position and provide intraoperative anatomical details, allowing immediate adjustment of the electrode position if necessary, providing safety guarantee for difficult cases of cochlear implant surgery and ensure accurate implantation of electrodes.
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Humans , Cochlear Implantation/methods , Retrospective Studies , Tomography, X-Ray Computed/methods , Cochlea , Cochlear ImplantsABSTRACT
Resumen ANTECEDENTE: El síndrome de Karsch-Neugebauer o ectrodactilia del pie o pie hendido, es una enfermedad congénita sumamente rara, caracterizada por aplasia-hipoplasia de las falanges y metatarsianos del pie. Cuando aparece de forma aislada se debe a una forma autosómica dominante de expresión variable, aunque también puede ser de carácter autosómico recesivo. CASO CLÍNICO: Paciente de 31 años, sin antecedentes heredofamiliares de importancia, con IMC de 25.95 kg/m2, signos vitales en parámetros normales. Con dos embarazos, cesárea previa sin complicaciones. El ultrasonido estructural 20 a 23.6 semanas del embarazo actual reportó un feto vivo, de sexo femenino y 22.2 semanas de gestación, con múltiples alteraciones anatómicas: arteria umbilical única, hueso nasal hipoplásico, micrognatia en ángulo facial y miembros inferiores con ectrodactilia bilateral. CONCLUSIONES: Los estudios ultrasonográficos, en especial el de las semanas 20 a 23.6 de gestación son decisivos para la detección de malformaciones congénitas. Sin embargo, a partir de las 11 a 13.6 semanas es posible establecer diagnósticos estructurales de manera temprana. Muchas alteraciones y síndromes, como el de Karsch-Neugebauer, suelen ser incapacitantes y al combinarse con otras anomalías pueden llegar a ser incompatibles con la vida. Se requieren diagnósticos tempranos para la toma de decisiones de manera consensuada con la familia y el equipo multidisciplinario.
Abstract BACKGROUND: Karsch-Neugebauer syndrome, or ectrodactyly of the foot or cleft foot, is an extremely rare congenital disorder characterized by aplasia-hypoplasia of the phalanges and metatarsals of the foot. When it occurs in isolation, it is due to an autosomal dominant form of variable expression, although it can also be autosomal recessive. CLINICAL CASE: 31-year-old female patient with no significant hereditary family history, BMI of 25.95 kg/m2, vital signs within normal parameters. With two pregnancies, previous caesarean section without complications. Structural ultrasound 20 to 23.6 weeks of the current pregnancy showed a live fetus, female sex and 22.2 weeks gestation, with multiple anatomical anomalies: single umbilical artery, hypoplastic nasal bone, micrognathia in the facial angle and lower limbs with bilateral ectrodactyly. CONCLUSIONS: Ultrasound examinations, especially at 20 to 23.6 weeks of gestation, are crucial for the detection of congenital malformations. However, from 11 to 13.6 weeks it is possible to make early structural diagnoses. Many disorders and syndromes, such as Karsch-Neugebauer syndrome, are often disabling and, in combination with other anomalies, can become incompatible with life. Early diagnosis is necessary to make informed decisions with the family and the multidisciplinary team.
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Background: Lateral palatal synechiae are rare congenital adhesions running from the free borders of the cleft palate to the lateral parts of the tongue or the oral cavity floor, typically found in cleft palate lateral synechiae syndrome. In this study, we present a case of a cleft palate associated with lateral synechiae (intraoral fibrous band) extending from the margin of the cleft palate to the floor of the mouth on the left side. Management of the oral synechia should aim to allow for airway stability, successful oral nutrition and oro-mandibular development. The surgical treatment started with Surgical transection of the band under general anesthesia to facilitate the palatoplasty procedure. Oral synechia may present as an isolated abnormality or as a component of the syndrome. Only a few isolated cases of oral synechia have been previously reported in the literature. In this study we discuss variations in intraoral synechiae associated with cleft palate and the etiology of lateral palatal synechiae through a literature review
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Type I Chiari malformation (CM) is an acquired or congenital disorder characterized by herniation of the cerebellar tonsils through the foramen magnum and into the spinal canal. The resulting anatomic abnormality impairs the flow of cerebral spinal fluid and results in the Chiari symptoms and signs. The purpose of this study was to report a case of successfully treated CM Type 1 that was discovered accidentally during childhood. A 9-year-old female presented to the emergency department complaining of dizziness and headache. Before her admission, she lost balance and collapsed to the ground fainting. A magnetic resonance imaging (MRI) scan of the brain disclosed herniation of cerebellar tonsils through the foramen magnum at 13 mm below the spinal canal. It is very difficult to determine the true frequency of this disorder early in childhood. A definitive diagnosis is generally made after a MRI, where the abnormal protrusion of the cerebellum toward the spinal cord can be seen
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Objective:To summarize the clinical features and prognosis of neonates with congenital fissure of larynx due to choking, and improve the diagnosis and treatment of congenital fissure of larynx by neonatal medical professionals.Methods:This study was a single-center retrospective case series report.With "choking" as the key word, combined with the information from the first page of the medical record, we searched in the electronic medical record system, and summarized the clinical characteristics and prognosis of neonates diagnosed as congenital fissure of larynx.The study period was from January 2017 to February 2021.Results:A total of seven cases were diagnosed as congenital fissure of larynx, accounting for 2.2% of the total number of hospitalized children due to choking during the same period.Among them, six cases were male, gestational age was 38 (36, 39) weeks, birth weight was 2 820 (2 255, 3 420) g, admission age was 18(5, 20) days and hospitalization duration was 26 (6, 45) days.The common clinical symptoms were choking (7/7) and cyanosis (5/7). Six of the seven children with fissure of larynx were clearly classified as type Ⅰ(two cases), type Ⅲ(three cases), and type Ⅳ(one case). All the seven cases were accompanied by other site/tracheal malformations or congenital abnormalities, among which four (4/7) cases had VACTERL syndrome.A total of three children (two cases of type Ⅲ and one case of type Ⅳ) underwent laryngeal cleft repair operation, and all died shortly after surgery.Four cases didn′t receive laryngeal cleft repair operation (two cases of type Ⅰ, one case of type Ⅲ, one case of parting was unknown), one case with type Ⅰ fissure of larynx accepted the tracheoesophageal fistula repair operation only, who was followed up until the age of two years and six months, and he could have normal diet, one case of typeⅠfissure of larynx with gastric tube discharge, who was followed up to one year and eight months old, could be normal diet too, the two cases of children with no difference between the growth with their peers; one case with type Ⅲ fissure of larynx was lost to follow-up; One case, whose classification was unknown, was followed up until he was 40 days old, and still could be fed orally.The physical development of the child was significantly behind that of the same age.Conclusion:Congenital fissure of larynx is rare, with choking as its main symptom and other malformations.Diagnosis and classification require fiberlaryngoscope and bolting laryngoscope under general anesthesia combined with bronchoscopy, which is difficult to treat.Type Ⅰ has a good prognosis, while type Ⅲ and Ⅳ have poor prognosis.
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Resumen OBJETIVO: Conocer los aportes de la resonancia magnética, como estudio complementario al ultrasonido, en el diagnóstico de malformaciones fetales en el sistema nervioso central, musculoesquelético y tórax en dos unidades de Medicina Materno Fetal. MATERIALES Y MÉTODOS: Estudio retrospectivo, observacional y comparativo, de corte transversal, efectuado con base en la revisión de las historias clínicas registradas durante tres años de pacientes con más de 18 semanas de embarazo remitidas a la Unidad de Medicina Materno Fetal del Hospital San José y la Clínica Colsubsidio por alguna malformación estructural fetal identificada en el sistema nervioso central, musculoesquelético y tórax diagnosticada con base en la ultrasonografía. RESULTADOS: Se revisaron 109 historias clínicas de pacientes embarazadas con fetos con diagnóstico de malformación congénita por ultrasonido. Las indicaciones más frecuentes fueron: anormalidades en el sistema nervioso central en 61.5%; hidrocefalia no comunicante en 36.6% por ultrasonido y 21% por resonancia magnética, seguida de las del tórax con 40.4% por ultrasonido y 36.7% por resonancia magnética y malformaciones del sistema musculoesquelético con 20.1% por ultrasonido y 2.8% por resonancia magnética. La concordancia diagnóstica entre el ultrasonido y el diagnóstico posnatal fue del 66% y el de la resonancia magnética de 76%. En comparación con el ultrasonido inicial la resonancia magnética aumentó la frecuencia de diagnóstico de malformación fetal. CONCLUSIÓN: La resonancia magnética, complementaria al diagnóstico por ultrasonido de malformaciones congénitas, fue más notable en los sistemas nervioso central y musculoesquelético donde permitió mejorar la caracterización de las alteraciones detectadas en el ultrasonido.
Abstract OBJECTIVE: To know the contributions of magnetic resonance imaging, as a complementary study to ultrasound, in the diagnosis of fetal malformations in the central nervous system, musculoskeletal and thorax in two units of Maternal Fetal Medicine. MATERIALS AND METHODS: Retrospective, observational and comparative cross-sectional study, based on the review of medical records recorded during three years of patients with more than 18 weeks of pregnancy referred to the Maternal Fetal Medicine Unit of Hospital San José and Clínica Colsubsidio, for any fetal structural malformation identified in the central nervous system, musculoskeletal and thorax diagnosed based on ultrasonography. RESULTS: We reviewed 109 clinical histories of pregnant patients with fetuses diagnosed with congenital malformation by ultrasound. The most frequent indications were abnormalities of the central nervous system in 61.5%: non-communicating hydrocephalus in 36.6% by ultrasound and 21% by MRI, followed by those of the thorax with 40.4% by ultrasound and 36.7 by MRI and malformations of the musculoskeletal system 20.1% by ultrasound and 2.8% by MRI. The diagnostic agreement between ultrasound and postnatal diagnosis was 66% and that of MRI was 76%. Compared to initial ultrasound, MRI increased the frequency of diagnosis of fetal malformation. CONCLUSION: MRI, complementary to ultrasound diagnosis of congenital malformations, was more notable in the central nervous and musculoskeletal systems where it allowed improving the characterization of the alterations detected by ultrasound.
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Introduction: Obstetric ultrasound is part of the screening to select the population at high risk of having a congenital malformation. Considering that fetal defects occur in approximately 2-4 out of every 100 live newborns, and are the cause of 35-40% of perinatal mortality in Chile, it is therefore justified to perform the second trimester ultrasound, which presents a high index prenatal screening (56%), with few false positives. Methods: A retrospective, cross-sectional and descriptive study was carried out, by reviewing 6,385 ultrasound scans, which were performed during one year (June 2020-June 2021), at the Regional Hospital of Talca, where 126 fetuses with suspected malformation were detected. Results: Of the total number of patients evaluated, a congenital malformation rate of 1.9% was detected, with cardiac malformations the most frequent, and diabetes mellitus the main risk factor. Conclusions: Antenatal ultrasound study is essential in the first and second trimesters of pregnancy, followed by a referral to an ultrasound committee, emphasizing early and interdisciplinary management. The frequencies found are similar to those reported in the international bibliography
Subject(s)
Humans , Female , Pregnancy , Adult , Young Adult , Congenital Abnormalities/genetics , Congenital Abnormalities/diagnostic imaging , Fetal Diseases/diagnostic imaging , Comorbidity , Chile , Retrospective Studies , Ultrasonography, Prenatal , Chromosome Disorders/geneticsABSTRACT
RESUMO: Este artigo objetiva analisar o sentimento materno ao receber um diagnóstico de malformação congênita do filho nos períodos: pré-natal, nascimento e primeira infância. O estudo foi realizado com mães de filhos com anomalia fetal, por meio de noventa e sete entrevistas, que continham perguntas sobre gravidez e percepção acerca do diagnóstico. Direcionado ao sentimento destacam-se as questões: 'Como você se sentiu ao receber o diagnóstico?', 'Qual o sentimento atual?', 'Como encontrou conforto?'. Para compreensão dos dados foi utilizada a análise qualitativa de conteúdo com base numa estrutura de categorias. O diagnóstico de malformação congênita desmitifica as expectativas maternas quanto ao futuro do filho, configurando um cenário de ansiedade, confusão, insegurança e múltiplos medos. O auxílio, seja da equipe multidisciplinar de saúde, religioso ou familiar, é importante para ajudar mães a reduzirem o impacto emocional do diagnóstico, além de auxiliar com as dificuldades iniciais em estabelecer o vínculo com o bebê.
RESUMEN: El objetivo de articulo es analisar el sentimiento de la madre al recibir, en los períodos pré-natal, nacimento y primera infância, el diagnóstico de malformación congênita de su hijo. Para ello fue realizado un estúdio con madres cuyos hijos son portadores de anomalia fetal, por medio de noventa y siete entrevistas, que contenían preguntas sobre el embarazo y sobre el impacto de conocer el diagnóstico del bebé. Direccionado al sentimiento materno, se destacan en él, los siguientes aspectos: 'Como usted se sentio al recibir el diagnóstico?', 'Cual es su sentimiento actualmente?', 'Como encontro consuelo?'. Para poder compreender mejor los datos fue utilizada una análisis cualitativa de contenido con base en una estructura de categorias. El diagnóstico de malformación congénita desmitifica las expectativas maternas em relación al futuro de su hijo, configurando un escenário de ansiedad, confusión, inseguridad e múltiples miedos. El auxílio, sea del equipo multidisciplinario de salud, religioso o familiar, es importante para ayudar a las madres a reduzir el impacto emocional producido por el conocimiento del diagnóstico, y además servir de auxilio en las dificuldades iniciales de establecer un vínculo con el bebé.
ABSTRACT: This article aims to analyze the maternal feelings about a congenital malformation diagnosis received before birth, immediately after birth, or in early infancy. This study was conducted with mothers whose children have congenital anomalies, based on ninety-seven interviews that included questions regarding pregnancy and the mothers' perspective on their child diagnosis. Regarding maternal feelings, the main questions were: 'How did you feel when you first heard the diagnosis?', 'How have you been feeling?', 'Where have sought comfort?'. Qualitative analysis was performed based on categories for data comprehension. Congenital malformation diagnosis breaks down the maternal expectations around the child's future, creating an environment full of anxiety, confusion, insecurity and multiple fears. The support of the multidisciplinary health team, religious and domestic is important to reduce the emotional impact suffered by the mothers after the diagnosis. It also helps the early difficulties in bonding with the baby.
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Humans , Female , Adolescent , Adult , Middle Aged , Congenital Abnormalities/diagnosis , Diagnosis , Emotions , Anxiety/psychology , Prenatal Care/psychology , Psychology , Pregnancy/psychology , Family/psychology , Adaptation to Disasters , Fear/psychology , Sadness/psychology , Mother-Child Relations/psychology , Mothers/psychologyABSTRACT
Resumen Introducción: Los quistes dermoides son lesiones de origen ectodérmico poco frecuentes. Solo un 1,6% de ellos, se presenta en el piso de la boca y de éstos, solo un 6% lateralmente en el espacio submandibular. Objetivo: Reporte de caso y revisión de la literatura. Caso clínico: Se presenta un caso de una paciente de 32 años, con un cuadro de 1 año de evolución caracterizado por una lesión de crecimiento lento pero sostenido. Se le realizó la resección de la lesión junto con una submandibulectomía ipsilateral resultando compatible con un quiste dermoide. Discusión: La localización de esta lesión es muy infrecuente. En el estudio histopatológico son lesiones con epitelio pluriestratificado cornificado y anexos cutáneos. El estudio de imágenes orienta a una lesión quística, siendo la resonancia nuclear hoy en día el mejor examen para caracterizar esta lesión. Es una lesión benigna, sin recidivas reportadas cuando la resección ha sido completa.
Introduction: Dermoid cysts are uncommon lesions from ectodermic origin. Only 1.6% arise in the floor of the mouth, and at this site only 6% arise laterally in the submandibular region. Aim: Case report and review of the literature. Clinical Case: 32 years old patient, with a slow growing lesion during 1 year. Complete resection with an ipisilateral submandibulectomy was performed. The pathologic report showed a dermoid cyst. Discussion: The localization of this lesion is very uncommon. In the pathologic report are lesion with pluri stratified cornified epthitelium with skin attachments. Image studies show a cystic lesion being the magnetic resonance the best study to characterize this lesions. Are benign lesions, without recurrence reported when the lesion has been fully excised.
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Humans , Female , Adult , Submandibular Gland Neoplasms , Dermoid Cyst/diagnostic imaging , Magnetic Resonance Spectroscopy , Tomography, X-Ray ComputedABSTRACT
RESUMEN El objetivo de este estudio es realizar una revisión de la Malformación Congénita Pulmonar a propósito del caso de un feto de una paciente de 34 años que cursaba su segunda gesta, cuyo diagnóstico se realizó a la semana 30 de gestación. Además se realizó una revisión bibliográfica de la patología y de casos similares.
ABSTRACT The objective of this study is to perform a review of Congenital Pulmonary Malformation regarding a case of a fetus in a 34-year-old woman who was in her second pregnancy, whose diagnosis was made at week 30 of gestation. In addition, a bibliographic review of the pathology and similar cases was carried out
Subject(s)
Humans , Female , Pregnancy , Congenital Abnormalities , Cystic Adenomatoid Malformation of Lung, Congenital , Fetus , Pathology , Diagnosis , LungABSTRACT
Background:Congenital defects, abnormalities of structures or functions present at birth, maybe as a result ofgenetic or environmental factors or both and in most cases; the exact etiology is not clear but can occur in all animals. These abnormalities are responsible for slowing down of genetic progress and economic loss for the breeders, due to the death of animals.Methods:Available record of cases presented to Aliyu JedoVeterinary Clinic,Sokoto from December 2015 to 2019 was used to investigate congenital malformation in ruminants based on species and sex. Surgery was carried out in all the cases with local anaesthesia (infiltration technique) using lignocaine. Surgical procedures carriedout were rectopexy (atresia ani), gingivectomy (gingival fibromatosis), superficial keratectomy and temporary tarssorhaphy (dermoid cyst), casting and physiotherapy (contracted tendons). Results:A total of 47 congenital malformations; atresia ani 22 (46.8%), gingival fibromatosis 18(38.3%), dermoid cyst 6(12.8%), and contracted tendon 1(2.1%) were reviewed in the study.The ovine species had the highest incidence of cases load recorded 23(48.93%) followed by bovine 17(36.17%) and then caprine species7(14.89%). The incidence of all malformations was higher in males (68.1%) than in females (31.9%). All cases were attempted surgically with success in all the procedures.Conclusions:It can be concluded that male ruminants have the highest prevalence of congenital malformation. Congenital malformations are more frequently seen in ovine and least seen in caprine. Atresia ani appeared to be the most commonly reported cases
ABSTRACT
Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.
La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.
Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Abnormalities, Multiple , Ectromelia/complications , Ectromelia/diagnosis , Fetal Diseases/diagnosis , Anal Canal/abnormalities , Syndrome , Trachea/abnormalities , Fatal Outcome , Esophagus/abnormalities , Kidney/abnormalitiesABSTRACT
Ectopic seminal tract opening is a rare congenital malformation. Until recently, there has been a lack of comprehensive reporting on the condition. The purpose of this retrospective study is to summarize the experience of diagnosis and treatment of this condition based on 28 clinical practice cases throughout the past 30 years. We conducted auxiliary examinations on such patients including routine tests, imaging examinations, and endoscopy. Among these 28 cases, there were ectopic opening of vas deferens into enlarged prostatic utricles (6 cases); ejaculatory ducts into enlarged prostatic utricles, Müllerian ducts cysts, and urethras (18 cases, 2 cases, and 1 case, respectively); and ectopic opening of the unilateral vas deferens and the contralateral ejaculatory duct into enlarged prostatic utricle (1 case). The size of the enlarged prostatic utricle, the type of ectopic seminal tract opening, and the opening's location effectively assisted in the selection of clinical treatment methods, including transurethral fenestration of the utricle, transurethral cold-knife incision, open operation, laparoscopic operation, and conservative treatment. Satisfactory effect was achieved during follow-up. In conclusion, a definite diagnosis and personalized treatment are especially important for patients with ectopic seminal tract opening.
ABSTRACT
Objective@#To explore the diagnosis, classification and treatment of ectopic seminal tract opening in enlarged prostatic utricle (EPU).@*METHODS@#We retrospectively analyzed the clinical data on 22 cases of ectopic seminal tract opening in EPU confirmed by spermography, EPU open cannula angiography or intraoperative puncture of the vas deferens and treated by transurethral incision of EPU, cold-knife incision or electric incision of EPU, full drainage of the anteriorwal, and open or laparoscopic surgery from October 1985 to October 2017.@*RESULTS@#Five of the patients were diagnosed with ectopic opening of the vas deferens and the other 17 with ectopic opening of the ejaculatory duct in EPU. During the 3-48 months of postoperative follow-up, symptoms disappeared in all the cases, semen quality was improved in those with infertility, and 2 of the infertile patients achieved pregnancy via ICSI.@*CONCLUSIONS@#Ectopic seminal tract opening in EPU is rare clinically. Spermography is a reliable method for the diagnosis of the disease, and its treatment should be aimed at restoring the smooth flow of semen based on proper classification and typing of the disease.
Subject(s)
Humans , Male , Ejaculatory Ducts/surgery , Male Urogenital Diseases/surgery , Prostate/surgery , Retrospective Studies , Semen Analysis , Seminal Vesicles/surgery , Vas Deferens/surgeryABSTRACT
To further improve the prevention and treatment of birth defects and reduce the chance of disability caused by congenital malformations, the Department of Maternal and Child Health from National Health Commission have jointly launched the Congenital Malformation Aiding Project with the March of Dime Birth Defects Foundation of China in 2017. The Congenital Malformation Aiding Project aims at 72 types of congenital malformations in 6 major categories and provides funds to support poor sick children who are under 18 years old and registered residence in the targeted province(district, city) covered by this project. The Congenital Malformation Aiding Project is working to make sure the children affected by congenital malformation can receive timely treatment, and chances of disability caused by congenital malformation are reduced. This article explained the rules and policies of the Congenital Malformation Aiding Project and showed the achievement of Congenital Malformation Aiding Project from many different standpoints, such as social benefits, financial benefits, targeted poverty alleviation, and so on. Besides that, the future development of the Congenital Malformation Aiding Project is also explained. The Congenital Malformation Aiding Project has been implemented for three years. During the past three years, the Congenital Malformation Aiding Project reduced the burden of many families, effectively increased the social welfare, reflected the public care towards vulnerable groups and helped to build a harmonious well-to-do society.
ABSTRACT
ABSTRACT: A 48-hour-old mixed breed pony colt was referred to the hospital because of abdominal discomfort, weak suckling reflex and prostration. During clinical investigation, supportive and symptomatic treatments were necessary, and an abdominal radiography was performed revealing a large intestine filled with feces and large amounts of gas, in addition to free fluid in the cavity. After 3 days of treatment, the foal had not yet defecated, thus exploratory abdominal surgery was indicated, but the owners declined. Therefore, the foal was humanly euthanized. Post-mortem examination revealed complete absence of the pelvic flexure. Subsequent portions of the dorsal, transverse and small colons were intensely reduced. In addition, at the abdominal cavity there was 850 ml of yellowish translucent liquid. These findings are compatible with hydroperitoneum and type III atresia coli at the pelvic flexure, associated with underdevelopment of the dorsal, transverse and small colons.
RESUMO: Um pônei mestiço de 48 horas de vida foi encaminhado ao hospital para avaliação por desconforto abdominal, diminuição do reflexo de sucção e prostração. Durante a investigação clínica, tratamentos de suporte e sintomáticos foram necessários, e radiografia abdominal foi realizada revelando cólon maior repleto de fezes e grandes quantidades de gás, além de fluido livre na cavidade. Após três dias de tratamento, o potro ainda não havia defecado, sendo a laparotomia exploratória indicada, mas os proprietários recusaram. Portanto, o potro foi humanamente eutanasiado. O exame post-mortem revelou ausência completa da flexura pélvica. Porções subseqüentes dos cólons dorsal, cólon transverso e cólon menor se apresentaram intensamente reduzidas. Além disso, na cavidade abdominal havia 850 ml de líquido translúcido amarelado. Esses achados são compatíveis com o hidroperitônio e a atresia coli tipo III na flexura pélvica, associados ao subdesenvolvimento dos cólons dorsal, transverso e menor.