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1.
Genes (Basel) ; 14(11)2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-38003005

RESUMO

Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient's outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I-IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient's condition remains severe with bisphosphonate therapy.


Assuntos
Osteogênese Imperfeita , Gravidez , Feminino , Humanos , Lactente , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genética , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Diagnóstico Pré-Natal , Retardo do Crescimento Fetal
2.
J Clin Med ; 12(14)2023 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-37510684

RESUMO

Acute abdomen during pregnancy is rare. Despite advances in diagnostic imaging, preoperative diagnosis in the pregnant population due to anatomical and physiological changes can pose difficulties. Diagnosis and surgery delays increase the risk of adverse outcomes for both maternal and fetal health. In symptomatic cases, explorative surgery might be essential for correct diagnosis and patient treatment. Here, we present Meckel's diverticulum as an unusual cause of small bowel obstruction complicated with gangrene in a 34-week pregnant patient. The diagnosis was only apparent during explorative surgical laparotomy.

3.
Medicina (Kaunas) ; 55(7)2019 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-31324024

RESUMO

Background and Objectives: The aim of this survey was to assess the impact of epidural analgesia on post-partum back pain in post-partum women. Materials and Methods: The questionnaire was completed by post-partum women during the first days after delivery. Six months later, the women were surveyed again. The response rate was 70.66%, a total of 212 cases were included in the statistical analysis. The statistical analysis of the data was conducted using SPSS® Results. Seventy-nine (37.26%) women received epidural analgesia, 87 (41.04%) intravenous drugs, and 46 (21.7%) women gave birth without anesthesia. The prevalence of post-partum back pain was observed in 24 (30.38%) women of the epidural analgesia group, in 24 (27.58%) subjects of the intravenous anesthesia group, and in 14 (30.43%) women attributed to the group of subjects without anesthesia. The correlation between post-partum back pain and the type of anesthesia was not statistically significant (p = 0.907). Six months later, the prevalence of back pain was found in 31.65% of women belonging to the epidural analgesia group, in 28.74% of women with intravenous anesthesia, and in 23.91% of women without anesthesia. The correlation between complaints of back pain six months after delivery and the type of anesthesia applied was not statistically significant (p = 0.654). Conclusions. The labor pain relief technique did not trigger the increased risk of back pain in the early post-partum period and six months after delivery.


Assuntos
Analgesia Epidural/normas , Dor nas Costas/tratamento farmacológico , Trabalho de Parto/efeitos dos fármacos , Adulto , Analgesia Epidural/métodos , Dor nas Costas/etiologia , Feminino , Humanos , Trabalho de Parto/fisiologia , Satisfação do Paciente , Período Pós-Parto , Gravidez , Estudos Prospectivos , Inquéritos e Questionários
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