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1.
Cureus ; 14(7): e27268, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36039256

RESUMO

Unicornuate uteri are a type of Mullerian duct anomaly and the majority present with rudimentary horns. Rudimentary horn pregnancies are extremely rare and have a high risk of rupture. A high index of suspicion is needed to diagnose them early and unfortunately, the majority of cases are undetected until the patient presents with a ruptured uterus. Early diagnosis and management will reduce morbidities and mortality for patients. We present a case of a 29 year old who had a routine ultrasound scan in the first trimester that raised an index of suspicion for a rudimentary horn pregnancy. An MRI scan was performed and supplemented the ultrasound findings. The patient underwent laparoscopic management, and the non-communicating rudimentary horn, the foetus, and the attached tube were excised. The patient had a smooth recovery and had no complications.  Due to the rarity of rudimentary horn pregnancies, a high index of suspicion is needed for a diagnosis. Timely detection and intervention are crucial to prevent complications. Ultrasound scans and MRIs can aid in the diagnosis. Traditional management involved laparotomy, but with surgical advancements, laparoscopic surgery can be utilized as a less invasive alternative.

2.
Am J Hum Genet ; 100(4): 659-665, 2017 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-28318499

RESUMO

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. Immunolabeling experiments and transmission electron microscopy of the sciatic nerve from one of the affected individuals revealed a lack of myelin. Functional tests using affected individual-derived iPSCs showed that these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein. This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. This study adds to the recent reports implicating defective axoglial function as a key cause of AMC.


Assuntos
Artrogripose/genética , Proteínas da Matriz Extracelular/genética , Mutação , Células de Schwann/metabolismo , Artrogripose/diagnóstico , Artrogripose/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Bainha de Mielina/metabolismo , Proteínas do Tecido Nervoso , Linhagem
3.
Am J Obstet Gynecol ; 195(5): 1388-95, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16777050

RESUMO

OBJECTIVES: We investigated the impact of selective laser ablation on the cardiovascular pathology of the recipient twin in twin-twin transfusion syndrome. STUDY DESIGN: Fetal echocardiograms and medical records were reviewed from 22 pregnancies with severe twin-twin transfusion syndrome where echocardiography was performed before and after laser. RESULTS: Before laser, cardiomegaly associated with right and/or left ventricular hypertrophy without ventricular dilatation, was observed in most cases. Right ventricular and left ventricular systolic dysfunction (shortening fraction <28%) was present in 59% and 27%, respectively, and diastolic dysfunction (based on inflow and venous Dopplers) in 73%. Shortly after laser, biventricular systolic function improved significantly and diastolic function tended to improve (50%, P = .06). Functional pulmonary atresia, secondary to right ventricular systolic dysfunction, resolved in 2 of 2 cases at post-laser echocardiography. On serial assessment, diastolic function was normal in 7 of 10, hydrops regressed in 4 of 5, and neither progressive myocardial hypertrophy nor anatomical right ventricular outflow obstruction were found. CONCLUSIONS: Selective laser ablation in severe twin-twin transfusion syndrome acutely improves biventricular systolic function and tends to improve diastolic function in the recipient twin.


Assuntos
Anastomose Arteriovenosa/cirurgia , Cardiomegalia/embriologia , Transfusão Feto-Fetal/cirurgia , Cardiopatias/embriologia , Terapia a Laser , Placenta/irrigação sanguínea , Gêmeos , Adulto , Cardiomegalia/diagnóstico por imagem , Ecocardiografia , Feminino , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/fisiopatologia , Cardiopatias/fisiopatologia , Humanos , Hidropisia Fetal/fisiopatologia , Gravidez , Índice de Gravidade de Doença , Função Ventricular
4.
Am J Obstet Gynecol ; 187(6): 1617-22, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12501073

RESUMO

OBJECTIVE: The purpose of this study was to provide information on the causes and postnatal outcomes of fetal liver calcifications that were detected by ultrasound imaging. STUDY DESIGN: Cases with fetal liver calcifications that were encountered between 1992 and 2001 were evaluated. A detailed fetal ultrasound imaging for associated abnormalities, maternal STORCH (syphilis, cytomegalovirus, herpesvirus 1 and 2, rubella, and Toxoplasma ) analysis, parvovirus serologic condition, and parental cystic fibrosis mutations analysis were performed; amniocentesis was offered in all cases. All infants who were born alive were examined and followed up. RESULTS: Sixty-one pregnant women with fetal liver calcifications were identified. Forty of 61 patients had additional fetal abnormalities; 21 of 61 cases of fetal liver calcifications were isolated; 11/61 patients (18%) had abnormal karyotypes (trisomy 13, 4 patients; trisomy 21, 2 patients; trisomy 18, 1 patient; monosomy X (45,X), 1 patient; 4p-, 22q+, and 8p+, 1 patient). Ten of 11 patients with abnormal karyotypes had other abnormalities that were found on ultrasound imaging. Two patients had intrauterine infection, one patient had cytomegalovirus, and one patient had parvovirus B19 infection. Eighteen of 40 patients underwent pregnancy termination, one fetus died in utero, one newborn infant died, and two infants had neurologic sequelae. Of 21 patients with isolated liver calcifications, one fetus had parvovirus B19 infection and one infant had trisomy 21. The remainder of the infants each had a good outcome. CONCLUSION: Fetal liver calcifications are relatively common. Isolated cases have a good prognosis after aneuploidy and infection have been ruled out. However, additional major abnormalities present a risk for chromosomal abnormalities, mainly trisomy 13.


Assuntos
Calcinose/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Hepatopatias/diagnóstico por imagem , Resultado da Gravidez , Ultrassonografia Pré-Natal , Aborto Induzido , Calcinose/complicações , Calcinose/genética , Aberrações Cromossômicas , Anormalidades Congênitas/diagnóstico por imagem , Infecções por Citomegalovirus/complicações , Síndrome de Down/complicações , Feminino , Morte Fetal , Idade Gestacional , Humanos , Infecções/complicações , Cariotipagem , Hepatopatias/complicações , Hepatopatias/genética , Doenças do Sistema Nervoso/complicações , Infecções por Parvoviridae/complicações , Parvovirus B19 Humano , Gravidez , Prognóstico
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