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The Musculoskeletal System and Its Disorders
Published in Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss, Understanding Medical Terms, 2020
Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss
A dislocation, also known as a luxation (or when incomplete, a subluxation) occurs when two articulating surfaces become separated as a result of injury, associated disease, or a congenital disorder. It occurs most often in the shoulder joint and occasionally in the jaw. A sprain is the tearing of ligaments associated with sudden wrenching of a joint. This occurs most often in the ankle and is associated with loss of mobility and discoloration of the skin caused by hemorrhaging into the surrounding tissue. Carpal tunnel syndrome (CTS) occurs when the wrist ligament compresses the median nerve where it passes (tunnels) between the ligament and bones and tendons of the wrist (carpus).
Diamond–Blackfan Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Diamond–Blackfan anemia (DBA) is a rare genetic disorder of erythroid hypoplasia, typically manifesting as macrocytic anemia (reticulocytopenia and erythroblastopenia with normal myeloid and megakaryocytic lineages; pale pallor, failure to thrive, feeding difficulties), congenital anomalies (triphalangeal, bifid, subluxed thumbs, subtle flattening of the thenar eminence with a normal radius, genitourinary and heart defects, webbed neck, fusion of cervical vertebrae, congenital asymmetric high scapula), and predisposition to malignancy (MDS, AML, colon carcinoma, female genital tumors, and osteosarcoma) [38]. Heterozygous haploinsufficient mutations in the small and large subunits of the RP genes appear to be the key mechanism that underlies the pathogenesis of most DBA cases. Diagnosis of DBA is based on meeting four clinical criteria (age younger than 1 year; macrocytic anemia with no other significant cytopenias; reticulocytopenia; normal marrow cellularity with a paucity of erythroid precursors), and identification of RP pathogenic variant provides further evidence of this disorder [39]. Treatment of DBA involves glucocorticoid, transfusion, and HSCT [40,41]. Given many unanswered questions surrounding DBA (e.g., the role of non-RP genes and modifiers in its pathogenesis), further research is necessary to improve our understanding of and develop innovative therapeutic measures against this congenital disorder.
The possible impact of preimplantation diagnosis for infertile couples
Published in Elisabeth Hildt, Dietmar Mieth, In Vitro Fertilisation in the 1990s, 2018
We were interested to learn to what extent infertile patients treated with IVF/ICSI could potentially make use of PID, were this technology available to them (German law currently precludes the use of PID, but the issue is under intensive ethical and legal discussion). Our institute runs a special genetic counselling program for patients considering ICSI and similar procedures (Meschede et al. 1995, 1996). At the time of writing of this text we had completed the evaluation of 329 cases. For each of these couples an individual genetic risk assessment was performed. Any risk of ≥0.5 per cent for a major congenital disorder was considered as ‘significant’.
Reproductive health in adults with congenital heart disease: a review on fertility, sexual health, assisted reproductive technology and contraception
Published in Expert Review of Cardiovascular Therapy, 2023
J.A. van der Zande, G. Wander, K.P. Ramlakhan, J.W. Roos-Hesselink, M.R. Johnson
Congenital heart disease (CHD) affects around 1% of all live births worldwide and is the most frequently diagnosed congenital disorder [1,2]. Bicuspid aortic valve, ventricular septal defect, and atrial septal defect are the most common subtypes of CHD and are relatively mild compared with more complex abnormalities such as hypoplastic left heart syndrome and pulmonary atresia [3]. The survival rates vary between the different subtypes of CHD and substantially across the world [3,4]. Due to improvements in diagnosis, surgical and medical treatments, more people with CHD are reaching adulthood and considering pregnancy [5]. The European Society of Cardiology (ESC) guideline and the American Heart Association (AHA) guideline provide information on the management and organization of care for adults with CHD and give a clear overview of the risks and treatments of the different types of CHD [6,7]. However, due to the improved survival in individuals with CHD, considering their reproductive health has become more important, and this topic is still underexplored. In this review, we will discuss multiple aspects of reproductive health in both women and, when applicable, in men, including fertility, sexual health, assisted reproductive technology and contraception.
Antenatal corticosteroids-to-birth interval in preterm birth
Published in Acta Clinica Belgica, 2021
Isabelle Dehaene, Kris De Coen, Anna Oostra, Johan Decruyenaere, Kristien Roelens, Koenraad Smets
The observational data originates from the preterm birth register of Ghent University Hospital, a referral center for high-risk obstetric patients in Belgium. The register was created in 2016 and includes all women who delivered from 24 + 0 to 33 + 6 weeks’ gestation. Patients with the diagnosis of intrauterine fetal death at admission or expecting a fetus with a major congenital disorder that could influence neonatal outcomes were not included since the main goal of the registry is to explore neonatal and long-term outcomes according to obstetrical management. Maternal data was obtained retrospectively from 2012 till 9 July, 2017. From 10 July, 2017, data was collected prospectively, after obtaining informed consent of the parents to be. Neonatal data was extracted from the already operational neonatal database and imported into the register. Patient involvement was limited to consenting in the registration of the data and using the data for scientific purposes. Based on the current literature, a set of important variables was collected and managed using REDCap (Research Electronic Data Capture), a secure, web-based application designed to support data capture for research studies [10]. Of the core outcome set for evaluation of interventions to prevent preterm birth, all but one core neonatal outcomes were included in the register (not included is harm from intervention). Only one of the four core maternal outcome was included (PPROM) [11]. No other core outcome sets on PTB are available.
The safety of metronidazole in pregnancy
Published in Health Care for Women International, 2021
Ozioma C. Nwosu, Kathaleen Bloom
On February 2, 2018, a search of PubMed and ProQuest was conducted using “peer review” and “English” as limiters. Keyword, Boolean and MeSH searching included the following terms: Newborn OR Infant OR Neonate OR Fetus (Line 1) AND, Maternal OR Mother OR pregna* (line 2) AND, Metronidazole OR Flagyl (line 3) AND, Congenital abnormality OR Congenital Anomaly OR Congenital disorder OR Fetal anomaly OR fetal defect (line 4). Only 3 articles were ultimately selected for inclusion in the review. One of the articles was a systematic review (Sheehy et al., 2015). A replication of their search strategies failed to uncover any studies that were not previously analyzed. Two articles by Muanda and colleagues were found by a third party. One of these articles (Muanda et al., 2017) addressed the link between antibiotic use during pregnancy and the risk of spontaneous abortion. The other addressed the link between antibiotic use in pregnancy and the risk of major congenital malformations. However, metronidazole was not one of the antibiotics considered so this study was excluded. Figure 1 depicts the flow of the search.