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Pancreatectomy for hyperinsulinism
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Prenatal screening of all known mutations of all HI-related genes in the general population is impractical due to the low incidence of the disease. On the other hand, prenatal diagnosis in families with affected probands is possible and justified because it allows immediate postnatal management.
The application of new technologies to improve literacy among the general public and to promote informed decisions in genomics
Published in Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz, Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
Serena Oliveri, Renato Mainetti, Ilaria Cutica, Alessandra Gorini, Gabriella Pravettoni
Often, individuals tend to overestimate the impact that future (especially negative) emotional events might have on their psychophysical well-being (Shatz et al. 2015): such a tendency is called impact bias. Impact bias, in anticipation of future emotional states, often leads to an overestimation of the perceived risk, both by the patient (affective forecasting bias) and by the doctor, who anticipates his own emotional state (emphatic forecasting bias), characterized by excessive risk aversion. Furthermore, the future anticipation of an excessive emotional intensity referred to one’s own health conditions, is higher in healthy subjects than in actually affected subjects, who, for example, have already been diagnosed with a life-threatening condition (disability paradox). In general, patients tend to overestimate the emotional impact of a positive result (detected mutation) of a genetic test. Evidence in literature reveals that the individual’s level of stress peaks immediately after having received the genetic results for an increased risk of cancer, but the stress returns to normal levels over time (Lerman et al. 2002; Peters et al. 2013). The impact bias might partially explain the underutilization of predictive genetic tests by family members of a proband already classified as being ‘at-risk’.
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
3.22. In multifactorial inheritance, factors affecting the risk to relatives arethe presence of multiple affected family members.the age of the parent at the time of proband's birth.closeness of the relationship to the proband.the presence of severe and/or early onset disease in the proband.whether or not the proband is shown to have a normal karyotype.
Hereditary hemochromatosis: data from a single center Copenhagen cohort
Published in Scandinavian Journal of Gastroenterology, 2022
Rikke Therkildsen, Eva Efsen Dahl, Frank Vinholt Schiødt
A limitation of the present study is the retrospective design and the inherent confounders and bias. For some observations; e.g., severe organ complications with relatively few observations, the risk of type II errors (‘false negative’ findings) must be taken into consideration. Also, some of the symptoms reported by patients are unspecific; e.g., fatigue. Fatigue can be caused by many other factors than HH. Furthermore, decreased libido may not only be caused by HH induced hypogonadism. In some HH patients, this was a self-reported symptom. Even arthralgias from the MCP joints and the ankles may not be specific to HH. However, all patients in our cohort were followed by the three authors of this study and questioned similarly about symptoms in order to reduce interobserver bias. Also, referral patterns may affect the phenotype distribution, e.g., if many family members to probands are referred this may cause a possible decrease in symptoms reported. In our study most patients were probands. Conclusively, we believe that the above presented data are rather precise and descriptive for a large HH cohort in the post-HFE gene era
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome
Published in Ophthalmic Genetics, 2022
Hailey Mair, Nicholas Fowler, Maria E. Papatzanaki, Padmaja Sudhakar, Ramiro S. Maldonado
The mother of the proband, age 61, reported no visual complaints and profound hearing loss since childhood. Examination revealed a BCVA of 20/50 OD and 20/40 OS. Refractive error was (+1.2D +0.75 × 10) OD and (+0.75D +0.75 × 5) OS. Anterior segment exam showed bilateral intraocular lens implants and fundus examinations was significant for bilateral pale optic discs (Figure 1d). Axial lengths were 24.28 mm OD and 24.17 mm OS. OCT revealed bilateral global RNFL thinning (Figure 1e) and bilateral GCL thinning. Her static perimetry showed significant paracentral depressions (Figure 1f). Consistent with the proband, OCT macular scans showed a similar hyporeflective band at the level of the outer nuclear layer (Figure 3c,d). Genetic testing confirmed the same variant detected in the proband.
Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype
Published in Ophthalmic Genetics, 2022
Susmita Chowdhury, Roopam Duvesh, Manojkumar Kumaran, Rupa Anjanamurthy, Jayant Kumar, Ayyasamy Vanniarajan, Bharanidharan Devarajan, Periasamy Sundaresan
Detailed family history was then re-elicited, and further clinical re-evaluations were performed for the proband and available individuals of the family in June 2020. A careful repeat fundus examination of the proband showed the presence of prominent subretinal vitelliform lesions and pigmentary changes surrounding the arcade, circumferentially covering the posterior pole, few foveal vitelliform lesions and spoke wheel like pattern at the macula in both eyes. These vitelliform lesions were hyperautofluorescent on fundus auto-fluorescence (FAF) (Figure 1). His electrooculogram (EOG) findings at 11 years of age (as of 2020) revealed absent light rise and decrease in LP:DT ratio in both the eyes (1.26 OD, right eye and 1.20 OS, left eye). Overall, based on the clinical findings including fundus appearances, auto-fluorescence imaging, OCT, EOG, and together with the corroborating genetic results, proband was diagnosed as a case of autosomal recessive bestrophinopathy (ARB).