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1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 51(1): [100911], Ene-Mar, 2024. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-229786

RESUMO

El síndrome del ovario poliquístico (SOP), es una endocrinopatía femenina reconocida como un trastorno heterogéneo caracterizado por un hiperandrogenismo y una disfunción ovulatoria que conlleva problemas de fertilidad. Además, las pacientes suelen presentar una sintomatología asociada como la resistencia a la insulina, la intolerancia a la glucosa, la obesidad central y/o el síndrome metabólico que pueden inducir a un aumento del riesgo de enfermedad cardiovascular. Dado que uno de los principales objetivos del tratamiento del SOP es reducir las consecuencias metabólicas relacionadas con la obesidad, la resistencia a la insulina y el síndrome metabólico, las intervenciones dietéticas dirigidas a este propósito pueden resultar eficaces en el tratamiento de este padecimiento. Se ha llevado a cabo una búsqueda bibliográfica en diferentes bases de datos como Web of Science (WOS), PubMed y Google Académico estableciendo unos criterios de búsqueda previamente definidos. Se han elegido 11 trabajos para su revisión completa y análisis crítico. Entre las diferentes intervenciones que se han utilizado, se han seguido estrategias dietéticas como la Dietary Approaches to Stop Hypertension (DASH), modificaciones en los hidratos de carbono (HC), la inclusión de algún alimento determinado en el patrón dietético habitual y/o los cambios en el estilo de vida. De los resultados obtenidos, destacan las mejoras propiciadas en los marcadores corporales con un régimen DASH, los beneficios promovidos por dietas con modificaciones en los HC, en la resistencia insulínica (IR) y los marcadores hormonales, así como los efectos favorables en las manifestaciones clínicas relacionadas con el hiperandrogenismo, fomentados por el consumo de soja y las modificaciones en el estilo de vida (LSM).(AU)


Polycystic ovary syndrome (PCOS) is a female endocrinopathy recognized as a heterogeneous disorder characterized by hyperandrogenism and ovulatory dysfunction that leads to fertility problems. In addition, patients usually present with associated symptoms such as insulin resistance, glucose intolerance, central obesity and/or metabolic syndrome that can induce an increased risk of cardiovascular disease. Since one of the main goals of PCOS is to reduce the metabolic consequences related to obesity, insulin resistance, and the metabolic syndrome, targeted dietary interventions may be effective in treating PCOS.A bibliographic search has been carried out in different databases such as Web of Science, Pubmed and Google Scholar, establishing previously defined search criteria. Eleven have been chosen for full review and critical analysis. Among the different interventions that have been used, dietary strategies have been followed such as the dietary approaches to stop hypertension (DASH), modifications in carbohydrates, the inclusion of a certain food in the usual dietary pattern and/or lifestyle modifications. Of the results obtained, we highlight the improvements in body markers with a DASH diet, the benefits promoted by diets with modifications in carbohydrates, in insulin resistance and hormonal markers and favorable effects on clinical manifestations related to hyperandrogenism, fostered by soy consumption and lifestyle modifications.(AU)


Assuntos
Humanos , Feminino , Síndrome do Ovário Policístico , Hiperandrogenismo , Infertilidade , Distúrbios Menstruais , Hirsutismo , Ginecologia , Obstetrícia , Ovário/anormalidades , Ovário/lesões , Saúde da Mulher
2.
Birth Defects Res ; 116(2): e2317, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38362599

RESUMO

BACKGROUND: The condition of monozygotic, monochorionic triplet fetuses with a pair of conjoined twins is extremely rare (close to one in a million births), presents challenges in its management, and with poor prognosis. CASE REPORT: We report a case of monochorionic diamniotic triplet pregnancy, ultrasound at 14 weeks shows a pair of conjoined thoracopagus fetuses, sharing heart, liver, and umbilical cord, in addition to omphalocele. The third fetus, without malformations, presents signs of early heart failure compatible with twin-to-twin transfusion syndrome. It was decided to carry out expectant management where at 18 weeks, intrauterine death of the three fetuses occurs. An abortion is performed by hysterotomy. CONCLUSIONS: The treatment in these cases is discussed, three management options have been proposed: expectant management, selective reduction of the conjoined fetuses, or termination of the pregnancy. A review of the literature found only 12 cases with this combination of pathologies, in which only 3 normal fetuses (25%) survived and none of the conjoined twins survived. To our knowledge, this case is the first of a monochorionic triplet pregnancy with conjoined fetuses complicated with early twin-to-twin transfusion.


Assuntos
Transfusão Feto-Fetal , Gravidez de Trigêmeos , Gêmeos Unidos , Feminino , Gravidez , Humanos , Transfusão Feto-Fetal/complicações , Morte Fetal/etiologia , Feto/anormalidades
3.
Medicine (Baltimore) ; 103(7): e36923, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38363945

RESUMO

RATIONALE: Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria. PATIENT CONCERNS: This article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection. DIAGNOSES: By physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system. INTERVENTIONS: The patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment. OUTCOMES: The final symptoms of hematuria improved significantly, follow-up so far has not recurred. LESSONS: This case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.


Assuntos
Síndrome de Klippel-Trenaunay-Weber , Varizes , Feminino , Humanos , Síndrome de Klippel-Trenaunay-Weber/complicações , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Hematúria/etiologia , Veias/anormalidades , Varizes/complicações , Hipertrofia
4.
Cereb Cortex ; 34(2)2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38365268

RESUMO

Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls. We examined in utero MRIs of 30 controls and 42 cleft lip/palate fetal cases and measured regional brain volumes. Cleft lip/palate was categorized into groups A (cleft lip or alveolus) and B (any combination of clefts involving the primary and secondary palates). Using a repeated-measures regression model with relative brain hemisphere volumes (%), and after adjusting for multiple comparisons, we did not identify significant differences in regional brain growth between group A and controls. Group B clefts had significantly slower weekly cerebellar growth compared with controls. We also observed divergent brain growth in transient brain structures (cortical plate, subplate, ganglionic eminence) within group B clefts, depending on severity (unilateral or bilateral) and defect location (hemisphere ipsilateral or contralateral to the defect). Further research is needed to explore the association between regional fetal brain growth and cleft lip/palate severity, with the potential to inform early neurodevelopmental biomarkers and personalized diagnostics.


Assuntos
Fenda Labial , Fissura Palatina , Feminino , Criança , Gravidez , Humanos , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Encéfalo/diagnóstico por imagem , Encéfalo/anormalidades , Feto
5.
BMC Oral Health ; 24(1): 225, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38350932

RESUMO

BACKGROUND: Double teeth are dental anomalies that can lead to aesthetic and orthodontic problems. CASE PRESENTATION: This report discusses two cases involving the multidisciplinary management of permanent maxillary left lateral incisors fused with a supernumerary tooth in two girls aged 9 and 10. Following intraoral and radiographic examinations, one was diagnosed with fusion, and the other was diagnosed with concrescence. The crown of the fused incisor was separated using a burs and extracted intraorally. The concrescent incisor was separated along its length using a laser and intentionally replanted extraorally. After a 6-year follow-up, no pathological signs were observed in the fused incisor. However, after an 11-year follow-up, external resorption was observed in the concrescent incisor. CONCLUSIONS: Both incisors remained asymptomatic throughout the observation period. This case report highlights two different and effective methods employed to preserve the natural function, form, and aesthetics of double incisors.


Assuntos
Anodontia , Incisivo , Incisivo/anormalidades , Dente Supranumerário , Feminino , Humanos , Incisivo/diagnóstico por imagem , Seguimentos , Coroa do Dente/anormalidades , Coroas , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Maxila
6.
J Med Case Rep ; 18(1): 67, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38311773

RESUMO

BACKGROUND: Patent omphalomesenteric duct is one of the birth defects included in the spectrum of vitelline duct abnormalities. It is a rare anomaly with estimated prevalence of 0.13-0.2% in the general population. The most common presentation of patent vitelline duct is yellowish or mucoid type umbilical discharge which is usually noted in neonatal age or infancy. The main stay of diagnosis is clinical and outcome is favorable as long as timely surgical correction is offered. Here we present a 2 years old male child who presented with ileal prolapse through patent vitelline duct which is an exceptional mode of presentation of this pathology. CASE PRESENTATION: 2 years old Ethiopian male child who was noticed to have umbilical discharge since early infancy presented with protrusion of pinkish mass per the umbilicus of 4 h duration. He had no signs and symptoms of bowel obstruction. Abdominal examination revealed a prolapsed bowel which was viable via the umbilicus which was about 6 cm long. Otherwise, he had no abdominal tenderness or rigidity. He was explored with a smiley incision just above the umbilicus. The prolapsed bowel was reduced gently to the abdominal cavity. The tract of the Patent vitelline duct was identified and completely resected along with a wedge of ileum at its base. Primary repair of the ileal end where the tract was inserted was done in two layers and abdomen was closed in layers. The child had smooth post op course and was discharged on the 4th post-operative day. CONCLUSION: Prolapse of a bowel through the umbilicus is unusual presentation of a rare anomaly namely patent vitelline duct. This presentation warrants early surgical intervention before bowel ischemia issues. Hence, all clinicians dealing with children should be aware of this rare pathology so that urgent surgical management can be offered.


Assuntos
Anormalidades do Sistema Digestório , Ducto Vitelino , Pré-Escolar , Humanos , Masculino , Íleo/diagnóstico por imagem , Íleo/cirurgia , Intestinos , Prolapso , Umbigo/cirurgia , Umbigo/anormalidades , Ducto Vitelino/cirurgia , Ducto Vitelino/anormalidades
7.
Pediatr Surg Int ; 40(1): 53, 2024 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-38340215

RESUMO

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.


Assuntos
Pneumopatias , Anormalidades do Sistema Respiratório , Humanos , Criança , Pneumopatias/congênito , Anormalidades do Sistema Respiratório/cirurgia , Pneumonectomia/métodos , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Pulmão/anormalidades , Itália , Estudos Retrospectivos
8.
BMC Musculoskelet Disord ; 25(1): 115, 2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38331756

RESUMO

BACKGROUND: Instrumentation failure (IF) is a major complication associated with growth-sparing surgery for pediatric spinal deformities; however, studies focusing on IF following each surgical procedure are lacking. We aimed to evaluate the incidence, timing, and rates of unplanned return to the operating room (UPROR) associated with IF following each surgical procedure in growth-sparing surgeries using traditional growing rods (TGRs) and vertical expandable prosthetic titanium ribs (VEPTRs). METHODS: We reviewed 1,139 surgical procedures documented in a Japanese multicenter database from 2015 to 2017. Of these, 544 TGR and 455 VEPTR procedures were included for evaluation on a per-surgery basis. IF was defined as the occurrence of an implant-related complication requiring revision surgery. RESULTS: The surgery-based incidences of IF requiring revision surgery in the TGR and VEPTR groups were 4.3% and 4.0%, respectively, with no significant intergroup difference. Remarkably, there was a negative correlation between IF incidence per surgical procedure and the number of lengthening surgeries in both groups. In addition, rod breakage in the TGR group and anchor-related complications in the VEPTR group tended to occur relatively early in the treatment course. The surgery-based rates of UPROR due to IF in the TGR and VEPTR groups were 2.0% and 1.5%, respectively, showing no statistically significant difference. CONCLUSIONS: We found that IF, such as anchor related-complications and rod breakage, occurs more frequently earlier in the course of lengthening surgeries. This finding may help in patient counseling and highlights the importance of close postoperative follow-up to detect IF and improve outcomes.


Assuntos
Escoliose , Criança , Humanos , Escoliose/cirurgia , Escoliose/diagnóstico , Titânio , Próteses e Implantes/efeitos adversos , Costelas/cirurgia , Costelas/anormalidades , Reoperação , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia , Coluna Vertebral/anormalidades , Estudos Retrospectivos , Resultado do Tratamento , Estudos Multicêntricos como Assunto
9.
Clin Perinatol ; 51(1): 151-170, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38325939

RESUMO

This review provides a comprehensive summary of the current understanding of pulmonary hypertension (PH) in congenital diaphragmatic hernia, outlining the underlying pathophysiologic mechanisms, methods for assessing PH severity, optimal management strategies, and prognostic implications.


Assuntos
Hérnias Diafragmáticas Congênitas , Hipertensão Pulmonar , Humanos , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/cirurgia , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/terapia , Pulmão/diagnóstico por imagem , Pulmão/anormalidades , Prognóstico , Índice de Gravidade de Doença
10.
Khirurgiia (Mosk) ; (2): 90-96, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38344965

RESUMO

A right aortic arch is an anomaly of prenatal development characterized by location of aortic arch to the right from tracheal-esophageal complex. This variant of anatomy is usually asymptomatic and diagnosed accidentally. We performed open upper lobectomy for cancer of the upper lobe of the right lung in a patient with aortic arch dextraposition. Classical right-sided upper lobectomy in patients with right aortic arch is associated with certain difficulties. The most difficult objective is total excision of lymph nodes because trachea is hidden under aortic arch. A specific complication may be postoperative hoarseness associated with iatrogenic damage to the right recurrent laryngeal nerve.


Assuntos
Aorta Torácica , Neoplasias Pulmonares , Humanos , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Aorta Torácica/anormalidades , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/patologia , Nervo Laríngeo Recorrente/patologia , Linfonodos/patologia , Tórax
11.
Eur J Paediatr Dent ; 25: 1, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38353521

RESUMO

BACKGROUND: The term hypomineralisation of molars and incisors (MIH), introduced in 2001 by Weerheijm et al., describes a clinical state of hypomineralisation of permanent molars with frequent involvement of the incisors. MIH is considered a global dental problem with a prevalence ranging from 2.4% to 40.2% in the entire world paediatric population. The continuous increase in the prevalence of enamel anomalies, including MIH, indicates the need to define new intervention protocols based on the technological advances that are revolutionising paediatric dentistry. The use of ozone associated with the selective and minimally invasive excavation of the dental tissue combines the antibacterial properties of the gas with an ultra-conservative approach aimed at the maximum conservation of the dental tissue. The operative protocol described can be an important tool in the prevention and treatment of MIH. The aim of this work is to illustrate an operative clinical protocol based on the combined use of selective excavation and ozone for the treatment of carious lesions in paediatric patients with MIH.


Assuntos
Cárie Dentária , Hipoplasia do Esmalte Dentário , Humanos , Criança , Hipoplasia do Esmalte Dentário/epidemiologia , Suscetibilidade à Cárie Dentária , Cárie Dentária/epidemiologia , Dente Molar/patologia , Incisivo/anormalidades , Prevalência
12.
Eur J Cardiothorac Surg ; 65(2)2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38321257

RESUMO

Anomalous left coronary artery originating from the pulmonary artery (ALCAPA) is an infrequent congenital anomaly. Presentation of this syndrome is rare in adults. Nevertheless, adult patients are at risk of ischaemia, arrhythmias or sudden cardiac death and always require surgical intervention. At our institution, a specific technique of interposition of the right internal iliac artery as a free-graft for left coronary artery reimplantation was used in adult ALCAPA patients. The aim of this report is to determine long-term results and experiences with this surgical technique.


Assuntos
Artéria Coronária Esquerda Anormal , Síndrome de Bland-White-Garland , Anomalias dos Vasos Coronários , Adulto , Humanos , Síndrome de Bland-White-Garland/cirurgia , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Artéria Pulmonar/anormalidades , Artéria Ilíaca/diagnóstico por imagem , Artéria Ilíaca/cirurgia , Reimplante , Anomalias dos Vasos Coronários/diagnóstico por imagem , Anomalias dos Vasos Coronários/cirurgia
13.
BMJ Case Rep ; 17(2)2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38359952

RESUMO

Double-chambered right ventricle is a rare form of right ventricular outflow tract obstruction caused by anomalous hypertrophy of muscle bundles in right ventricle. Cases most often occur in children and rarely in adults. Most cases (80-90%) are associated with ventricular septal defect. We describe a case of pulmonary atresia and ventricular septal defect with double-chambered right ventricle. The interesting clinical findings, ECG, echocardiography and angiocardiography features are described here.


Assuntos
Cardiopatias Congênitas , Comunicação Interventricular , Atresia Pulmonar , Criança , Adulto , Humanos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/anormalidades , Atresia Pulmonar/complicações , Atresia Pulmonar/diagnóstico por imagem , Cardiopatias Congênitas/complicações , Comunicação Interventricular/complicações , Comunicação Interventricular/diagnóstico por imagem , Ecocardiografia
14.
Artigo em Chinês | MEDLINE | ID: mdl-38297862

RESUMO

Objective:To compare the application of endoscope and microscope in all kinds of stapes surgeries. Methods:Fifty-nine stapes surgeries have been collected from April 2020 to May 2023 in Senior Department of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School. Hearing level, hospital stay post-operation, times of hospital visit post-operation, etc. have been compared between the endoscopic group and microscopic group. Patients who were failed to place the stapes prosthesis because of the poor exposure of the oval window have been analyzed. Results:Otosclerosis was the most common diagnosis in both groups. There was 1(1/23) middle ear malformation in the endoscopic group and 5(5/36) middle ear malformations in the microscopic group. There were 2 Van Der Hover syndromes and 4 Treacher Collins syndromes in the microscopic group. In the endoscopic group ABG of 10 ears(43.5%) ≤ 10 dB, and ABG of 21 ears(91.3%) ≤20 dB.In the microscopic group ABG of 13 ears(41.9%) ≤ 10 dB, and ABG of 28 ears(90.3%) ≤ 20 dB. There was no statistic difference between 2 groups. Times of hospital visit post-operation in the endoscopic group was less than in the microscopic group(P<0.01). There was no facial palsy, tympanic perforation or profound sensorineural hearing loss in both groups. Conclusion:Endoscope is more suitable for patients who are evaluated with no severe stapes malformation, or less manipulation of drilling the bone. It could also reduce the hospital visit post-operation. Patients with narrow ear canal or severe middle ear malformation are recommended to perform the surgery with microscope, because it provides the chance of manipulation with 2-hands of surgeons.


Assuntos
Otosclerose , Cirurgia do Estribo , Humanos , Estribo , Orelha Média/cirurgia , Orelha Média/anormalidades , Otosclerose/diagnóstico , Endoscópios , Poliésteres , Estudos Retrospectivos , Resultado do Tratamento
15.
Artigo em Chinês | MEDLINE | ID: mdl-38297872

RESUMO

Objective:To Explore the clinical characteristics,risk factors,and differences in risk factors for different types of congenital auricular deformities,in order to provide theoretical basis for precise prevention and control of congenital auriclar deformity. Methods:Full-term newborns born in the Second Affiliated Hospital of Zhengzhou University from May 2022 to January 2023 were screened for auricle malformation, general information and data were collected,,and high-risk factors were investigated withself-made questionnaire.Using a case-control study method,newborns with auriclar deformities were selected as the case group and those without auriclar deformities during the same period were selected as the control group.A case-control study was conducted to analyze the incidence rate,high-risk factors,and differences in high-risk factors for different types of auricle deformities. Results:A total of 1 758 newborns (3 516 ears) were included in this study,including 562 newborns(927 ears) with auriclar deformities,the incidence of congenital malformations of the auricle is 26.37%.Among them,289 ears (8.22%) were helical rim deformity,244 ears (6.94%) were lidding/lop ear,166 ears (4.72%) were mixed deformities,131 ears (3.73%) were prominent/cup ear,79 ears (2.25%) were Stahl's ears,16 ears (0.46%) were abnormal conchal crus,and 2 ears (0.06%) were cryptotia.Maternal history of infection in early pregnancy(OR=1.513,95%CI 1.119-2.045),previous miscarriage history(OR=1.300,95%CI 1.049-1.613),and abnormal pregnancy(OR=1.278,95%CI 1.032-1.582) are risk factors for congenital auricular malformations.There was no statistically significant difference in the history of infection(χ²=1.877,P=0.391),previous miscarriage(χ²=4.706,P=0.095),and abnormal pregnancy(χ²=5.026,P=0.081) among mothers with helical rim deformity,lidding/lop ear,and mixed deformities. Conclusion:The incidence rate of congenital auricle deformity is high, with common malformations such as helical rim deformity, lidding/lop ear,and mixed deformities. Congenital auricular deformity is caused by various factors, the same risk factor has roughly the same impact on different types of morphological abnormalities.


Assuntos
Aborto Espontâneo , Anormalidades Congênitas , Pavilhão Auricular , Feminino , Gravidez , Recém-Nascido , Humanos , Estudos de Casos e Controles , Orelha Externa/anormalidades , Pavilhão Auricular/anormalidades , Anamnese , Anormalidades Congênitas/epidemiologia
16.
J Cardiothorac Surg ; 19(1): 54, 2024 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-38311727

RESUMO

BACKGROUND: Anomalous aortic origin of the coronary artery (AAOCA) is a rare congenital heart disease. Therefore, optimal indications for surgery in patients with severe aortic valve stenosis (AS) complicated by AAOCA remain uncertain. CASE PRESENTATION: We report the case of a 57-year-old male patient who underwent aortic valve replacement (AVR) and aortic root enlargement using a Y-incision procedure for severe AS with an anomalous aortic origin of the right coronary artery (AAORCA). Since preoperative single-photon emission computed tomography revealed no ischaemic lesions, an aortic root enlargement with a Y-incision was performed to prevent the potential compression of the prosthetic valve on the AAOCA and prosthesis-patient mismatch. CONCLUSIONS: Preoperative evaluation of the coronary anatomy and myocardial ischaemia using advanced imaging modalities and aortic root enlargement with the Y-incision procedure is an effective strategy for preventing ischaemic complications in cases of severe AS with AAORCA.


Assuntos
Estenose da Valva Aórtica , Anomalias dos Vasos Coronários , Implante de Prótese de Valva Cardíaca , Masculino , Humanos , Pessoa de Meia-Idade , Aorta Torácica/cirurgia , Anomalias dos Vasos Coronários/complicações , Anomalias dos Vasos Coronários/cirurgia , Estenose da Valva Aórtica/complicações , Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Valva Aórtica/anormalidades , Implante de Prótese de Valva Cardíaca/métodos
17.
Nat Commun ; 15(1): 1125, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38321032

RESUMO

Congenital vertebral malformation, affecting 0.13-0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital vertebral malformation and 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the probands and reveals a muscle-related disease mechanism. Gene-based burden test of ultra-rare variants identifies risk genes with large effect sizes (ITPR2, TBX6, TPO, H6PD, and SEC24B). To further investigate the biological relevance of the genetic association signals, we perform single-nucleus RNAseq on human embryonic spines. The burden test signals are enriched in the notochord at early developmental stages and myoblast/myocytes at late stages, highlighting their critical roles in the developing spine. Our work provides insights into the developmental biology of the human spine and the pathogenesis of spine malformation.


Assuntos
Anormalidades Musculoesqueléticas , Coluna Vertebral , Humanos , Coluna Vertebral/anormalidades , Anormalidades Musculoesqueléticas/genética , Alelos , Exoma , Proteínas com Domínio T/genética
18.
Can Vet J ; 65(2): 119-124, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38304473

RESUMO

An 8-month-old female Maltese dog was referred for examination with a history of circling, dullness, and drooling. Serum biochemical analysis revealed hyperammonemia, with microhepatica observed on radiography. Computed tomography angiography revealed a portosystemic shunt originating from the right gastric vein and inserting into the prehepatic caudal vena cava. Portal blood flow to the liver was not observed. Based on computed tomography angiography, the dog was tentatively diagnosed with portosystemic shunt with portal vein aplasia. An exploratory laparotomy was done to obtain a definitive diagnosis. The dog had no subjective clinical signs of portal hypertension during a temporary occlusion test of the portosystemic shunt. A thin-film band was placed around the portosystemic shunt to achieve partial attenuation. There was no evidence of hepatic encephalopathy in the long term after surgery, and the dog's liver volume increased over time. Computed tomography angiography at 6 mo after surgery identified well-visualized intrahepatic portal branches. Key clinical message: We inferred that a direct occlusion test is a reliable diagnostic technique that overcomes the limitations of diagnostic imaging methods, including computed tomography angiography, and is a good technique for determining whether surgical attenuation is possible in dogs with suspected portal vein aplasia.


Atténuation chirurgicale réussie d'un shunt porto-systémique chez un chien avec une aplasie de la veine porte diagnostiquée par imagerie. Une femelle bichon maltais âgée de 8 mois a été référée pour examen avec une histoire de tournis, apathie et salivation excessive. L'analyse biochimique du sérum a révélé une hyperammionémie, avec un petit foie observé lors des radiographies. Une angiographie par tomodensitométrie a révélé un shunt porto-systémique prenant son origine de la veine gastrique droite et s'insérant dans la veine cave caudale pré-hépatique. Le flot sanguin porte au foie n'était pas observé. Sur la base de l'angiographie par tomodensitométrie, un diagnostic présumé de shunt porto-systémique avec aplasie de la veine porte a été émis. Une laparotomie exploratoire a été effectuée afin d'obtenir un diagnostic définitif. Le chien ne présentait pas de signe clinique subjectif d'hypertension portale durant un test d'occlusion temporaire du shunt porto-systémique. Une bande de film mince a été placée autour du shunt porto-systémique pour causer une réduction partielle. Il n'y avait aucune évidence d'encéphalopathie hépatique à long terme après la chirurgie, et le volume du foie du chien a augmenté dans le temps. Une angiographie par tomodensitométrie effectuée 6 mo après la chirurgie a permis de bien visualiser des branches portes intra-hépatiques.Message clinique clé :Nous avons déduit qu'un test d'occlusion est une technique diagnostique fiable qui surpasse les limites des méthodes d'imagerie diagnostique, incluant l'angiographie par tomodensitométrie, et est une bonne technique pour déterminer si une réduction chirurgicale est possible chez des chiens chez qui on soupçonne une aplasie de la veine porte.(Traduit par Dr Serge Messier).


Assuntos
Doenças do Cão , Derivação Portossistêmica Transjugular Intra-Hepática , Cães , Feminino , Animais , Veia Porta/diagnóstico por imagem , Veia Porta/cirurgia , Veia Porta/anormalidades , Derivação Portossistêmica Transjugular Intra-Hepática/veterinária , Doenças do Cão/diagnóstico por imagem , Doenças do Cão/cirurgia , Fígado/diagnóstico por imagem , Fígado/cirurgia , Angiografia/métodos , Angiografia/veterinária
19.
Foot Ankle Clin ; 29(1): 81-96, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38309805

RESUMO

Historically, coronal plane deformities of greater than 10° to 15° have been deemed contraindications for total ankle replacement (TAR). However, recent studies show satisfactory results in TAR with severe preoperative varus deformity. When correctly applying ancillary procedures, preoperative varus deformity can be structurally corrected, resulting in similar clinical scores to those obtained with "regular TAR." However, complications and revisions appear to increase with increasing deformity. Unfortunately, results of TAR in varus ankles consist of heterogeneous data (eg, with regards to prosthetic brands, bearing-types, duration of follow-up, and ancillary procedures) precluding strict conclusions. This could be solved by an international consensus group.


Assuntos
Artroplastia de Substituição do Tornozelo , Humanos , Artroplastia de Substituição do Tornozelo/efeitos adversos , Artroplastia de Substituição do Tornozelo/métodos , Articulação do Tornozelo/cirurgia , Articulação do Tornozelo/anormalidades , Resultado do Tratamento , Amplitude de Movimento Articular , Estudos Retrospectivos
20.
Cir. pediátr ; 37(1): 37-41, Ene. 2024. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-228970

RESUMO

Introducción: El abdomen hostil es una patología quirúrgica caracterizada por una pérdida de espacio entre los órganos y estructuras del abdomen. La terapia de presión negativa se ha descrito de manera extensa en adultos, pero no así en pacientes pediátricos. El objetivo de este estudio es presentar los resultados a corto plazo de la terapia de presión negativa en pacientes pediátricos con abdomen hostil debido a distintas etiologías. Material y métodos: Identificación y análisis retrospectivo de los pacientes pediátricos con abdomen hostil (< 18 años) tratados con terapia de presión negativa ABTHERA. Resultados: Se incluyó a 7 pacientes. La mediana de edad fue de 16 años (rango: 9-17). 5 (71,4%) eran niños y 2 (28,6%) niñas. 3 (43%) presentaban antecedentes médico-quirúrgicos de interés (lupus eritematoso sistémico, apendicectomía complicada y derivación ventriculoperitoneal). El dispositivo se empleó a presión constante, entre–50 y –125 mmHg. Los hallazgos preoperatorios y postoperatoriosse notificaron mediante la clasificación de Bjork. Los dispositivos sesustituyeron cada 4-7 días (mediana de 5 días). La cantidad total dereemplazos fue de 1-4 (mediana de 3). 5 (71,4%) pacientes precisaronventilación mecánica invasiva durante la terapia de presión negativadebido al estado clínico. 4 (57%) pacientes recibieron nutrición enteral.1 (14%) paciente requirió reintervención posterior al cierre definitivopor el desarrollo de un absceso retroperitoneal. El resultado, evaluadoen base a la tolerancia oral, el movimiento intestinal y la ausencia dedolor, fue favorable en todos los pacientes.Conclusión: Los dispositivos de terapia de presión negativa aportanresultados favorables en los pacientes pediátricos con abdomen hostil,aunque se necesita más información para evaluar los ajustes de presióny la frecuencia de reemplazo del dispositivo.(AU)


Introduction: Hostile abdomen is a surgical condition characterized by loss of space between organs and structures in the abdomen. Negative pressure therapy use has been widely described in adults; the case is not the same for pediatric patients. The goal of this study is to present short-term results of negative pressure therapy use in pediatric patients with hostile abdomen due to different etiologies. Materials and methods: Pediatric hostile abdomen patients (< 18 years) who were treated Negative pressure therapy using ABTHERA were identified and retrospectively reviewed. Results: 7 patients were included in this study. Median age was 16 (range: 9-17 yo). 5 (71.4%) were male and 2 (28.6%) females. 3 (43%) had significant past medical/surgical history (Systemic Lupus Erythematosus, complicated appendectomy and ventriculoperitonealshunt). The device was set at a continuous pressure ranging from –50 to –125 mmHg. Pre and post-surgical findings were reported using Bjork’s classification. Devices were replaced every 4-7 days (median 5 days). Total amount of replacements was 1-4 (median 3). 5 (71.4%) patients required invasive mechanical ventilation during use of Negative pressure therapy based on clinical status. 4 (57%) patients received enteral nutrition. 1 (14%) patient required re-intervention posterior to definitive closure due to retroperitoneal abscess development. Outcome, evaluated by (oral tolerance, bowel movement and absence of pain), was favorable in all patients. Conclusion: Negative pressure therapy devices generate favorable results in hostile abdomen in pediatric population but further information is needed to assess pressure settings and device replacement frequency.(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , /métodos , Técnicas de Fechamento de Ferimentos Abdominais , Abdome/cirurgia , Tratamento de Ferimentos com Pressão Negativa , Peritonite/cirurgia , Apendicite/cirurgia , Estudos Retrospectivos , Pediatria , Cirurgia Geral , Abdome/anormalidades , Estados Unidos
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