Fundamentals
Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam in Introduction to Computational Health Informatics, 2019
The databases are implemented as relational, object-relational and object-based databases. Relational databases are limited as they cannot model complex objects and medical datatypes needed in medical databases. The advantage of object-oriented databases is that it is supported by class inheritance and information hiding. Class inheritance allows the method reuse in subclasses. Medical databases have to be very secure to protect against unauthorized and fraudulent access or corruption. The access to medical databases should be guided by HIPAA policy and should be role-based at the record level to support only authorized access. To keep the database secure, medical databases are encrypted, fragmented and have role-based keys to give a role-based access to medical practitioners.
Breast and Endocrine Surgery
Kaji Sritharan, Samia Ijaz, Neil Russell, Tim Allen-Mersh in 300 Essentials SBAs in Surgery, 2017
Which of the following statements is true regarding multiple endocrine neoplasia syndrome (MEN)? MEN type 1 is due to a chromosomal abnormality located on chromosome 13.Hyperparathyroidism occurs more commonly in MEN type 2A than in MEN type 1.MEN is more common in women.The pattern of inheritance depends on the type.Medullary thyroid cancer is associated with MEN type 2.
Knowledge Area 5: Antenatal Care
Rekha Wuntakal, Ziena Abdullah, Tony Hollingworth in Get Through MRCOG Part 1, 2020
A 28-year-old primigravida comes to see you in the antenatal clinic at 32 weeks of pregnancy. She is worried because she has just found out that her cousin is a carrier of the cystic fibrosis gene. What is its inheritance pattern?Autosomal dominantAutosomal recessiveMitochondrialX-linked dominantX-linked recessive
Testing strategies used in the diagnosis of rare inherited bleeding disorders
Published in Expert Review of Hematology, 2023
Rajiv K Pruthi
Patients with a high bleeding score but normal results of hemostatic testing may have collagen vascular bleeding disorder such as Ehlers-Danlos Syndrome (EDS). Major clinical manifestations of EDS variants include joint hypermobility, skin fragility, and hyperextensibility. The Beighton screening tool assesses for joint hypermobility (Table 3), seen in selected variants of EDS and assigns a score. This score provides a likelihood of joint hypermobility [12]; additional clinical findings in EDS variants with bruising as a prominent symptom are shown in Table 4. More detailed description of EDS variants is described in recent publications [13]. Although EDS variants were felt to be rare and are not included in the definition of RBD, a recent study estimated a prevalence of approximately 1 in 500 in the general population [14]. Follow-up testing for EDS, if indicated, consists of molecular genetic testing for genes implicated in each subtype of EDS listed in (Table 4). The modes of inheritance and genes implicated in the pathogenesis of each subtype vary. It should be noted that patients with EDS may also have co-existing hemostatic abnormalities [15]. Most of these variants have a relatively benign clinical course except for vascular type (formerly type IV), which has a propensity for life-threatening complications, such as arterial rupture. Finally, despite exhaustive testing, a defined group of patients with an evident bleeding tendency, but no diagnostic laboratory findings are categorized as bleeding disorders of unknown cause [16].
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child
Published in Ophthalmic Genetics, 2019
Shirel Weiss, Lior Cohen, Tamar Ben-Yosef, Miriam Ehrenberg, Nitza Goldenberg-Cohen
Inherited retinal dystrophies primarily affect the cone or the rod photoreceptors. The cone-rod dystrophies (CRDs) have a population prevalence of 1/40,000. There are more than 30 subtypes which are distinguished by their genetic causes and pattern of inheritance. The disease course typically begins with progressive loss of cone function, followed by or sometimes concomitant with secondary loss of rod function (3). Typical symptoms include photophobia, reduced central visual acuity, and loss of color vision (3,4). Findings on funduscopy are initially normal and can progress to severe macular dystrophy (5). Visible retinal pigment deposits, predominantly localized to the macular region, are characteristic of the disease (3). CRDs can be non-syndromic or occur as part of syndromes, such as spinocerebellar ataxia type 7 and Alstrom syndrome.
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family
Published in Ophthalmic Genetics, 2018
Xin Jin, Lanlan Chen, Dajiang Wang, Yixin Zhang, Zehua Chen, Houbin Huang
Peripheral cone dystrophy (PCD) was believed as a very rare type of retinal dystrophy, which was firstly demonstrated in 2004 by Kondo et al. (1). It was characterized by the more affected peripheral cone system than central cone system; whereas the rod system is completely preserved (2). Due to its rarity, the inheritance pattern has not been determined. Patients with PCD presented different clinical symptoms including photophobia, defective visual field, impaired visual acuity, and color vision. Generally, the peripheral cone impairment in PCD primarily was demonstrated by focal macular electroretinogram (ERG), multifocal ERG, and rod-cone perimetry in functionality, and spectral-domain optical coherence tomography (SD-OCT) and low-magnification AO images in morphology (3,4). To the best of our knowledge, although some genes associated with cone-rod dystrophy (CORD) were sequenced in PCD patients, no gene mutations causing PCD has been identified (5).
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