Tranexamic Acid (TXA) for the Hemostatic Treatment of Post-Partum Hemorrhage (PPH): What Key Points Have We Learnt After All These Years?

Post-partum bleeding or post-partum hemorrhage (PPH) is often defined as the loss of more than 500 mL of blood after vaginal delivery or 1000 mL of blood after cesarean section following the delivery of a child [...]

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

<p>Abstract</p> <p>Background</p> <p>Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS.</p> <p>Results</p> <p>We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result.</p> <p>Discussion</p> <p>Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS.</p

The use of array-CGH in a cohort of Greek children with developmental delay

<p>Abstract</p> <p>Background</p> <p>The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for the last decades. The implementation of Array Comparative Genomic Hybridization (array-CGH) has enabled the analysis of copy number variants (CNVs) with high resolution. Major cohort studies attribute 11% of patients with unexplained mental retardation to clinically significant CNVs. Here we report the use of array-CGH for the first time in a Greek cohort. A total of 82 children of Greek origin with mean age 4.9 years were analysed in the present study. Patients with visible cytogenetic abnormalities ascertained by standard karyotyping as well as those with subtelomeric abnormalities determined by Multiplex Ligation-dependent Probe Amplification (MLPA) or subtelomeric FISH had been excluded.</p> <p>Results</p> <p>Fourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in 3p14.1 inherited from the father and a ~1.1 Mb duplication in (22)(q13.1q13.2) inherited from the mother. Although both parents were phenotypically normal, it cannot be excluded that the dual duplication is causative for the patient's clinical profile including dysmorphic features and severe developmental delay. Furthermore, three <it>de novo </it>clinically significant CNVs were detected (3.7%). There was a ~6 Mb triplication of 18q21.1 in a girl 5 years of age with moderate MR and mild dysmorphic features and a ~4.8 Mb duplication at (10)(q11.1q11.21) in a 2 years old boy with severe MR, multiple congenital anomalies, severe central hypotonia, and ataxia. Finally, in a 3 year-old girl with microcephaly and severe hypotonia a deletion in (2)(q31.2q31.3) of about ~3.9 Mb was discovered. All CNVs were confirmed by Fluorescence <it>in situ </it>hybridization (FISH). For the remaining 9 patients the detected CNVs (inherited duplications or deletions of 80 kb to 800 kb in size) were probably not associated with the clinical findings.</p> <p>Conclusions</p> <p>Genomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced.</p

Antiphospholipid Syndrome and Pregnancy-Diagnosis, Complications and Management: An Overview

Antiphospholipid syndrome which is also known as APS is an autoimmune disease which represents an acquired form of thrombophilia. The etiology of APS remains unknown. This disorder occurs when the immune system mistakenly attacks some of the normal human proteins and manifests itself as recurrent arterial or venous thrombosis and it could emerge after abortions or in recurrent pregnancy loss. In APS, the body produces the wrong antibodies against phospholipid-binding proteins, that is present in the blood and plays an important role in coagulation. Antibodies are specific proteins that usually target and neutralize the body’s invaders, such as viruses and bacteria. When antibodies attack phospholipid-binding proteins, blood clots abnormally. Specifically, it could cause blood clots in veins or arteries leading to stroke and various pregnancy complications such as: endometrial death, miscarriage, preeclampsia, intrauterine growth restriction and prematurity. APS is divided into primary and secondary, which is associated with autoimmune diseases and more often with systemic lupus erythematosus (SLE), while antibodies against cardiolipin are detected in many other conditions (infections, malignancies, drugs, etc.). The symptoms of APS, in addition to arterial and/or venous thrombosis and pregnancy complications, are multisystemic and the differential diagnosis of the primary APS from the secondary, in the context of SLE, is of particular clinical interest and is subject of this literature review

Uterine Embolization as a New Treatment Option in Adenomyosis Uteri

Adenomyosis is characterized by the development of endometrial ectopic glands and tissue in the myometrium layer in depth greater than 2.5 mm from the endometrial surface of the separative area by -myomas well as by hypertrophy and hyperplasia of the smooth muscles of the myometrium. This is filtration, not mere displacement, of the myometrium, from the endometrium. Clinical symptoms include dysmenorrhea and menorrhagia. It is diffuse (adenomyosis) or focal (adenomyoma), asymmetrically affects the uterine wall of premenopausal women (usually the posterior) and often coexists with myomas. The pathogenesis of adenomyosis remains unknown. The treatment options are: drug therapy, invasive treatment of fibroids: myomectomy (open—intra-abdominal, laparoscopic, hysteroscopic), hysterectomy, myolysis—cryocatalysis, microwave or radiofrequency thermal catalysis (RF-ablation), ultrasound focus catalysis (FUS), laser photocatalysis and percutaneous selective uterine artery embolization (UAE). Embolization remains an alternative and not a substitute of hysterectomy. The medical indication is made on a case-by-case basis, depending on age, desire for pregnancy and the clinical symptoms of adenomyosis

The Contribution of Uterine Artery Embolization as a Safe Treatment Option for Uterine Fibroids

Uterine fibroids have remarkably heterogeneous clinical characteristics with unknown exact etiology. The treatment of fibroids should be individualized based on their size, location, growth rate, the symptoms that they cause, the desire to have children and the age of the woman. Embolization is currently the most advanced non-surgical technique. The majority of women report satisfactory post-treatment results like shorter hospitalization period and recovery time in comparison to hysterectomy and improvement or complete remission of clinical symptoms. Complications include amenorrhea (in the majority of cases: recurrence after three months) and infections that are generally treated with antibiotics. The results from most clinical studies and our published experience indicate that embolization improves pelvic symptoms related to uterine fibroids. Collaborative efforts between gynecologists and interventional radiologists are necessary in order to optimize the safety and efficacy of this procedure. In the future, embolization could be generally recommended as treatment option for women who desire future fertility/pregnancy

Prognostic and predictive factors in patients with fallopian tube cancer

The primary fallopian tube carcinoma is the most rare gynaecological cancer. Ιts frequency accounts for 1 % of all gynaecological malignancies. There is limited evidence in the international literature with regard to this t neoplasm. In addition, there are limited data regarding the role and significance of the so-called prognostic factors. In the current retrospective study we performed analysis and evaluation of certain immunochemical factors such as (HER-2, MMP-2, MMP-9, ER, PR, TIMP-1, TIMP-2, VEGF) expressed in the histology specimen of patients with primary fallopian tube cancer. Αmong the evaluated factors VEGF, exhibited larger expression. Furthermore,we performed a statistical correlation of the immunochemical factors with the clinical characteristics of the patients, the survival and the time to progression of disease. The results did not show any prognostic significance of the factors associated with the progression of the disease and the survival of the patients. The stage and the residual disease were found to be the most important prognostic factors for disease progression. We found that the optimal debulking in the early stages of the disease ameliorates the survival of the patients. Larger studies with randomised control trial charateristics are necessitated in order to reach to safer conclusions with regard to the prognosis of the fallopian tube cancer. The guidelines for the management of the fallopian tube cancer (Cytoreductive surgery and adjuvant chemotherapy), should follow the principles and guidelines of the ovarian cancer management. Fallopian tube cancer is a disease with multidisciplinary approach, it requires the cooperation of a specialist gynaecologist oncology with pathologist and oncologist; the main aim is the treatment of the patient and impovement of his overall survival.Το πρωτοπαθές καρκίνωμα των σαλπίγγων είναι το σπανιότερο κακόηθες νεόπλασμα του γυναικείου γεννητικού συστήματος με συχνότητα 1 % εκ του συνόλου των γυναικολογικών κακοηθειών. Οι βιβλιογραφικές αναφορές είναι αρκετά περιορισμένες σε αριθμό και στοιχεία. Ο ρόλος των κλινικών και παθολογοανατομικών προγνωστικών παραγόντων δεν είναι επαρκώς τεκμηριωμένος. Στην παρούσα αναδρομική μελέτη διενεργήθηκε ανοσοϊστοχημικός έλεγχος της έκφρασης των παραγόντων (HER-2, MMP-2, MMP-9, ER, PR, TIMP-1, TIMP-2, VEGF) σε παρασκευάσματα ασθενών με πρωτοπαθές καρκίνωμα σαλπίγγων. Από τους προβλεπτικούς παράγοντες της μελέτης μας ο πιο σημαντικός ήταν ο VEGF λόγω της συχνότερης έκφρασης του. Ακολούθως έγινε συσχέτιση των ανοσοϊστοχημικών ευρημάτων με τα κλινικά χαρακτηριστικά των ασθενών καθώς και με την επιβίωση και τον χρόνο μέχρι την υποτροπή της νόσου. Τα αποτελέσματα δεν είχαν προγνωστική σημασία για την έκβαση της νόσου και την επιβίωση των ασθενών. Το στάδιο της νόσου και η υπολειπόμενη νόσος βρέθηκαν να είναι οι σημαντικότεροι προγνωστικοί παράγοντες για την έκβαση της νόσου. Η ικανοποιητική κυτταρομείωση στα πρώιμα στάδια της νόσου βελτιώνει την επιβίωση των ασθενών. Είναι γενικά αποδεκτό ότι απαιτούνται μελέτες τυχαιοποιημένες με μεγαλύτερο αριθμό ασθενών, για να οδηγηθούμε σε ασφαλή συμπεράσματα για την πρόγνωση της νόσου. Η αντιμετώπιση του πρωτοπαθούς καρκινώματος των σαλπίγγων, η χειρουργική κυτταρομείωση και η επικουρική χημειοθεραπεία οφείλουν να ακολουθούν τις διεθνείς οδηγίες και πρότυπα που εφαρμόζονται στο πρωτοπαθές καρκίνωμα των ωοθηκών. Το πρωτοπαθές καρκίνωμα των σαλπίγγων είναι νόσος η οποία αντιμετωπίζεται με την άριστη κλινική συνεργασία ειδικού γυναικολόγου ογκολόγου, παθολογοανατόμου και παθολόγου ογκολόγου με κοινό σκοπό την θεραπεία των ασθενών και τη βελτίωση του προσδόκιμου επιβίωσής τους

Delivering into the Mounting Evidence of a Probable Link between Maternal Hypothyroidism and Breech Presentation at Term: What Do We Know until Now?

Approximately 3–5% of all women at term have a breech baby [...