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Recurrent Pregnancy Loss
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Reshama S. Navathe, Shabani Ahluwalia
Appropriate diagnostic workup of RPL is essential for choosing the proper intervention (Table 17.4) [14]. The initial part of the workup consists of a detailed history (medical comorbidities, smoking, alcohol and caffeine use, illicit drug use, environmental exposures, and working conditions, as well as detailed obstetric and gynecologic history) and physical exam (weight, blood pressure, pelvic exam). Eliciting the gestational age of miscarriage is important, as often RPL occurs at a similar gestational age in subsequent pregnancies, and the most common cause of RPL varies by gestational age. Sometimes, though, obstetric history is mixed, with early pregnancy loss (PL), second-trimester PL, preterm birth (PTB), and/or fetal death. In these cases, workup may include other tests (see specific chapters, including Chap. 57 in Maternal-Fetal Evidence Based Guidelines). Screening tests (see later) can be recommended concomitantly, or they can be performed based on clinical scenario and suspected etiology. The latter approach allows for a more cost-effective practice and minimizes unnecessary testing for couples. Appropriate diagnostic workup of RPL is essential for choosing the proper intervention.
Pediatric Hematocolpos
Published in Botros Rizk, A. Mostafa Borahay, Abdel Maguid Ramzy, Clinical Diagnosis and Management of Gynecologic Emergencies, 2020
Omar M. Abuzeid, Mostafa I. Abuzeid
Imaging that can be used during workup include transabdominal ultrasound scan as well as MRI. Transabdominal ultrasound scan may show large fluid collection in the vagina as well as in the endometrial cavity (Figure 17.8). Ultrasound with a transperineal approach may be helpful in determining the thickness of the agentic segment of the lower vagina. Such information is essential for guiding the surgeon in choosing the best surgical approach. MRI of the abdomen and pelvis will show an enlarged proximal vagina with internal debris on T1 and T2 images and possible hematometra (Figure 17.9). MRI of the abdomen and pelvis can also detect any associated renal anomalies. X-ray of the lumbosacral region can detect the presence of skeletal anomalies such as scoliosis or kyphosis.
Magnetic resonance angiography and/or computed tomography angiography: New gold standard for arteriovenous malformations?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
The diagnostic workup should minimize the risks of the diagnostic procedures and the exposition to ionizing radiations. Imaging in medicine is based on the use of physical energies (magnetic resonance, X-rays, ultrasound) and the postprocessing of the acquired images with the aid of a computer. Today we have two imaging studies that allow for the scanning of wide areas of the body: computed tomography (CT) and magnetic resonance imaging (MRI). The study of blood vessels with CT is possible only with the aid of contrast medium, and the examination is named CT angiography (CTA). In the 1990s, the slip ring was developed for helical scanning. Here, the X-rays tube/detector array is continuously rotated around the patient as the table is incrementally advanced, resulting in a continuous spiral scanning mechanism through the entire patient. Thus, CT scanning became much more rapid and efficient, and the introduction of multiple detector rows allowed further improvement in spatial resolution and quicker scanning times, as fewer slices were required to image a defined field of view. And finally, with advancements in computer technology, large image datasets could be quickly processed and manipulated in real time, thus providing a more complete understanding of the vascular anatomy than traditional invasive angiography, as the arterial wall itself may be visualized and the anatomy may be seen from any orientation.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Published in International Journal of Developmental Disabilities, 2023
Watfa Al-Mamari, Ahmed B. Idris, Khalid Al-Thihli, Reem Abdulrahim, Saquib Jalees, Muna Al-Jabri, Ahlam Gabr, Fathiya Al Murshedi, Adila Al Kindy, Intisar Al-Hadabi, Zandrè Bruwer, M. Mazharul Islam, Abeer Alsayegh
The advances in genomic technologies have led to a remarkable improvement in the understanding of genetic contributions to complex disorders such as ASD (Ku et al.2011). However, the diagnostic yield for a given condition remains a significant factor when calculating the cost-effectiveness of introducing a particular test to the flow of the diagnostic work-up (Dragojlovic et al.2018). This is particularly evident in centres with limited financial resources where despite the declining cost of WES, it is still usually considered as the last option in the diagnostic workup for ASD. To the best of our knowledge, this is the first study that has systematically assessed the impact of clinical and demographic variables on the diagnostic yield of WES when applied to children with ASD from a consanguineous population.
Design, synthesis, and biological screening of a series of 4′-fluoro-benzotriazole-acrylonitrile derivatives as microtubule-destabilising agents (MDAs)
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2022
Federico Riu, Roberta Ibba, Stefano Zoroddu, Simona Sestito, Michele Lai, Sandra Piras, Luca Sanna, Valentina Bordoni, Luigi Bagella, Antonio Carta
Work-up procedure (A). Yellow solid; C15H8F2N4. MW: 282.07; 58% yield (0.28 g); m.p. 135.6–137.2 °C; Rf 0.70. 1H NMR (DMSO-d6): δ 8.75 (1H, s, =CH), 7.99 (2H, d, 1JH–H= 8.4 Hz, H–3″,5″), 7.90 (1H, d, 1JH–H= 8.8 Hz, H–7′), 7.57 (1H, dt, H–6′), 7.44 (2H, d, 1JH–H= 7.6 Hz, H–2″,6″), 7.41 (1H, m, H–5′), 2.42 (3H, s, CH3). 13 C NMR (DMSO-d6): δ 151.12 (C, d, 1JC–F= 256.0 Hz, C–F), 146.66 (C, d, 1JC–F= 4.0 Hz, C), 143.01 (C), 139.02 (CH), 135.40 (C, d, 1JC–F= 16.0 Hz, C), 130.10 (2CH), 129.97 (2CH), 128.71 (C, d, 1JC–F= 6.0 Hz, CH), 127.24 (C), 114.62 (C, d, 1JC–F= 5.0 Hz, CH), 113.09 (C≡N), 111.61 (C, d, 1JC–F= 16.0 Hz, CH), 110.46 (C), 21.24 (CH3). ESI–MS m/z calcd for C15H8F2N4 283.07898, 284.08233, found 283.9893, 284.1545 [M + H]+.
Are We Only Detecting the Tip of the Iceberg? A Nationwide Study on Primary Aldosteronism with up to 8-Year Follow-up
Published in Endocrine Research, 2022
Hrafnhildur Gunnarsdottir, Gudbjorg Jonsdottir, Gudjon Birgisson, Jon Gudmundsson, Helga Agusta Sigurjonsdottir
A much higher number of PA cases would be expected in Iceland. Estimating that 20–30%37 of adult Icelanders (between 200 and 250 thousand) have HT and 10% of HT is caused by PA, prevalence of PA should be a few thousand – making 58 (65) cases during a 10-year period an abnormally low number.1,2 We sense that many patients with resistant HT in Iceland receive MRA without undergoing PA work-up. This could be due to work-up complexity and fear of changing a complicated combination of HTM. Making the work-up easier for the patient as well as the doctor is important. As studies have indicated that aldosterone itself plays an important role in the increased cardiovascular risk among PA patients, it is vital to diagnose and treat according to evidence-based guidelines. Most studies, including ours, agree that specialized treatment is overall more successful for UD.13,15,24 Also, to minimize risk of cardiometabolic events and death among bilateral PA patients on treatment, sufficient doses of MRA are essential.38