Hematologic Diseases

Leff, Jonathan D.; Shore‐Lesserson, Linda; Fischer, Gregory W.

doi:10.1016/b978-1-4377-2787-6.00011-5

Cited by 3 publications

(3 citation statements)

References 104 publications

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“…FVL results from a guanine to adenine substitution at nucleotide 1691 in the FV gene which lead to a substitution of arginine by glutamine at position 506. FVL mutations occur in 3 to 5% of the general population and encodes for a protein resistant to degradation by the protein C, impairing the signaling for anticoagulation and fibrinolysis [37,38]. In the current study, 14.5% of the patients presented the FVL in heterozygote state, no case with homozygous mutation was found.…”

Section: Resultsmentioning

confidence: 44%

Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss

Erdelean¹,

Farcas²,

Poroch³

et al. 2018

Rev. Chim.

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Spontaneous miscarriage is reported in approximately 15% of the clinically recognized pregnancies. Several reports have showed an increased risk of miscarriage in patients with thrombophilia, but due to the heterogeneity of study design the role thrombophilic factors and the use of anticoagulant therapy in prevention of pregnancy loss is still unclear. The current study includes 55 patients for which we ran a screening of the most commonly inherited thrombophilia mutations (FVL, FII, MTHFR C677T/A1298, PAI 4G/5G mutations). We found that most of the patients (92.72%) associated mutation in at least 2 of the genes evaluated. Only a small number of patients (7.27%) had a single variant identified. We have found high prevalence of the studied variants in the pregnant patients that experience pregnancy loss, with risk allele frequencies increased from 2 to 11 times as compared to the general population. We consider that evaluation of the trombophilic variants should be indicated for patients with pregnancy loss in order to establish a possible cause for the miscarriage.

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Section: Resultsmentioning

confidence: 44%

Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss

Erdelean¹,

Farcas²,

Poroch³

et al. 2018

Rev. Chim.

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“…Factor VIII activity was raised to and maintained at 100% during first 3 postoperative days followed by 50% activity from day 4 to 7. [ 3 ] We administered 1 gm tranexamic acid prior to induction of anesthesia to enhance clot stability and improve hemostasis. [ 4 ]…”

Section: Discussionmentioning

confidence: 99%

I-gel™ may be the device of choice for controlled ventilation in patients with hemophilia undergoing abdominal laparoscopic surgery

et al. 2018

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Haemophilia is an inherited bleeding disorder with variable deficiency of Factor VIII in the plasma and is characterised by bleeding into joints, muscles and tissues either spontaneously or in response to trivial trauma. Perioperative care requires multidisciplinary involvement. Perioperative management involves the risk of excessive bleeding from surgical site as well as spontaneous bleeding into the brain in response to surgical stress in patients with previous history of intracerebral haemorrhage. Airway management of such patients during anaesthetic intervention is a challenge and entails the risk of life threatening haemorrhage into the airway. The I gel Supraglottic airway device may be best suited for the purpose considering its soft elastomeric non-inflatable cuff, ease of insertion, availability of gastric suction port and minimal leak fraction on controlled ventilation. The I Gel may be solution to avoiding airway instrumentation in patients with bleeding disorders. It may be an alternative to endotracheal intubation in patients with Haemophilia undergoing surgery.

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“…4 A FVL defect results from a mutation in the G1691A gene that encodes clotting factor V, which is inherited as an autosomal dominant trait; this leaves factor V resistant to inactivation by factor V-activated protein C. 4,5 In the normal population, up to 3-5% of people carry the FVL mutation. 6 Pregnant women suffering from this deficiency appear to have an increased rate of spontaneous recurrent fetal loss. 5 To the best of the authors' knowledge, no relationship between FVL deficiency and NF has yet been reported in the literature.…”

mentioning

confidence: 99%

Intravenous Remifentanil Analgaesia for an Obstetric Patient with Type I Neurofibromatosis and a Factor V Leiden Mutation

Gálvez

Errando

Serrano

et al. 2018

Sultan Qaboos Univ Med J

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Type I neurofibromatosis is characterised by altered skin pigmentation and the growth of benign tumours, particularly along the peripheral nerves and central nervous system. We report a 36-year-old primigravida woman in labour who was admitted to the obstetric suite of the Hospital Sant Joan de Déu, Barcelona, Spain, in 2007 with hypothyroidism, type I neurofibromatosis and a factor V Leiden mutation. Due to a lack of cranial and spinal imaging data, an epidural was not indicated; instead, continuous intravenous remifentanil analgaesia was administered. The remifentanil infusion was self-titrated by the patient using a visual analogue scale, with the dosage ranging from 0.01 to 0.25 μg/kg/minute. Due to rotational dystocia, Kjelland-type forceps were used during the delivery. After birth, the infant was found to have Apgar scores of 9 and 10, with no maternal or neonatal adverse effects observed. Although still controversial, remifentanil may be a successful alternative for analgaesia in similar cases; however, the specific risks and benefits for each patient should be considered prior to administration.

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Hematologic Diseases

Cited by 3 publications

References 104 publications

Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss

Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss

I-gel™ may be the device of choice for controlled ventilation in patients with hemophilia undergoing abdominal laparoscopic surgery

Intravenous Remifentanil Analgaesia for an Obstetric Patient with Type I Neurofibromatosis and a Factor V Leiden Mutation

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