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1.
Int J Surg Case Rep ; 102: 107788, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36516595

RESUMO

INTRODUCTION: Dermoid cysts, or also known as mature cystic teratomas, are one of the most common benign ovarian tumors. Spontaneous rupture of this tumor is rare and can be suspected on imaging. CASE REPORT: we report a case of ruptured mature ovarian teratoma. A 21 years old previously healthy woman presented with recurrent pelvic pain, the diagnostic of rupture was made by imaging. The patient underwent surgery with a good follow up. DISCUSSION: Dermoid cysts are the most common benign ovarian neoplasm and its rupture is rare due to its thick capsule. Imaging has a major role in the diagnosis of dermoid cyst and in the detection of its rupture. CT scan is the most requested modality imaging especially in acute abdominal pains. MRI can performed for further characterization. CONCLUSION: the aim of the study is to report a new case of ruptured mature ovarian teratoma and to describe the imaging signs suggesting dermoid cysts rupture.

2.
Radiol Case Rep ; 15(9): 1604-1608, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32685079

RESUMO

We describe, the clinical presentation of a rare case of Tracheal Agenesis in a preterm infant and we highlight magnetic imaging resonance (MRI) and autopsy findings to better characterize this anomaly. A 30-year-old female presented for acute polyhydramnios at 30 weeks gestation of a male foetus. Prenatal MRI was performed and excluded this diagnosis. After delivery, the neonate presented a respiratory distress. The laryngoscopy control of tube position concluded to an esophageal intubation. A second reading of antenatal MRI was made. An autopsy was performed. The internal examination of the organs revealed broncho-oesophageal fistula. The upper airways were obstructed at the larynx. Fetal MRI should be interpreted with caution when Tracheal Agenesis is highly suspected.

3.
Eur J Oral Sci ; 126(1): 24-32, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29114927

RESUMO

Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes - paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) - using direct Sanger sequencing of the exons and intron-exon boundaries. The most prevalent variants identified in PAX9 and AXIN2 genes were analyzed using the chi-square test. The sequencing results revealed a number of variants in the AXIN2 gene, including one novel missense mutation in one patient with agenesis of a single second premolar. We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis. Only one missense mutation was identified in the WNT10A gene and this mutation was found in two patients. Interestingly, WNT10A is reported as the most prevalent gene mutated in the European population with NSTA.


Assuntos
Anodontia/genética , Proteína Axina/genética , Fator de Transcrição MSX1/genética , Mutação , Fator de Transcrição PAX9/genética , Proteínas Wnt/genética , Anodontia/diagnóstico por imagem , Feminino , Humanos , Masculino , Mutação de Sentido Incorreto , Fenótipo , Polimorfismo Genético , Radiografia Panorâmica
4.
J Neonatal Surg ; 5(3): 35, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27433453

RESUMO

We present a case of male newborn presented with respiratory distress at 21 hours of life. The patient was operated for right congenital diaphragmatic hernia (CDH). Hepatic pulmonary fusion (HPF) was found at surgery.

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