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Medical Abuse
Published in Marc D. Feldman, Gregory P. Yates, Dying to be Ill, 2018
Marc D. Feldman, Gregory P. Yates
Only in the mid-20th century did illness fabrication become a recognized form of child maltreatment. This is partly due to the fact that pediatricians before this time did not have a formal duty of protection toward children. There was little awareness of child maltreatment, and no laws requiring, or establishing, public child protective agencies. Domestic violence was considered a private matter. Only after the publication of “The Battered Child Syndrome” in 19622 did pediatricians begin to view cruelty to children as something they could diagnose.
You Don’t Know What You Don’t Know
Published in Thomas W. Young, The Sherlock Effect, 2018
The article called for other conditions that could mimic the battered-child syndrome to be ruled out by a “full evaluation.” In clinical medicine, a “full evaluation” means a diagnostic workup, often including X-rays and laboratory tests. Once the other conditions have been ruled out and the diagnosis made certain, the treatment would involve removing the child from the presence and custody of the offending person so that the child would be safe.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
A phenotype similar, although much more complex and severe than warfarin embryopathy is described in multiple sulphatase deficiency, a recessive condition caused by mutations in the sulphatase-modifying factor-1 gene (SUMF1), responsible for the activation of all the sulphatase enzymes in the cell. Child syndrome: an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, a very rare condition which shows unilateral involvement with joint contractures, limb hypoplasia and a wide range of organ malformations (cardiac, genitourinary, endocrine, cerebral);
On Death and Dying at the Beginning of Life: Grieving the Stillborn Baby
Published in The American Journal of Bioethics, 2019
Subsequent children of mothers who sought emotional support were less likely to form disorganized attachment as compared to children of mothers who did not seek such assistance. Another risk factor for the development of pathology later in life for the subsequent child stemmed from if there was role reversal wherein the subsequent child was tasked with providing comfort to the bereaved mother. Active grief following a perinatal loss persisted in women who were trying to conceive and diminished in women who subsequently became pregnant. However, women who became pregnant may have developed a false sense of recovery from bereavement while their underlying chronic grief was unaltered. Parents of children following a perinatal loss struggled to find a balance between maintaining a connection with their deceased child versus bonding with their subsequent living child without being overly anxious or controlling. After the loss, they valued and prioritized their living children even more while being cognizant of the subsequent child not being a “replacement child” for the lost child. Parents who tried to forget and move on from their deceased baby were more likely to exhibit prolonged or pathological grief. To this end, continuing the bond with the deceased infant served an adaptive purpose that should be promoted over “replacement child syndrome” in perinatal loss counseling practices (Unstundag-Budak 2015).
Time Reproduction Deficits at Young Adult Follow-Up in Childhood ADHD: The Role of Persistence of Disorder and Executive Functioning
Published in Developmental Neuropsychology, 2019
Russell A. Barkley, Mariellen Fischer
This study initially utilized the original sample of 158 children determined as having hyperactive child syndrome (the diagnostic term for ADHD-C at the time) and a matched CC group (N = 81) followed concurrently. The groups were originally evaluated in 1979–80 when they were aged 4–12 years (Barkley, Karlsson, Strzelecki, & Murphy, 1984). Most (ADHD-C N = 123, or 78%; CC N = 66, or 81%) were evaluated again as teens in 1987–88 when they were 12–20 years of age (mean age 14 years) (Barkley, Fischer, Edelbrock, & Smallish, 1990). The participants were reassessed at early adulthood in 1992–96 at 19–25 years of age (mean age of 20 years) (Barkley, Fischer, Smallish, & Fletcher, 2002). The final follow-up serving as the basis for this article was in adulthood ages 24–32 (mean age of 27) conducted from 1998 to 2004 (Barkley et al., 2008) where 135 of the ADHD-C cases returned for the evaluation as did 75 of the CC cases as previously reported in this journal (Barkley & Fischer, 2011). For the present article, 131 of the original ADHD-C participants agreed to participate in all aspects of the measures reported in the present study (83%), as did 71 of the original 81 CC participants (88%).
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients
Published in Ophthalmic Genetics, 2022
Yan Zhang, Wen-Bin Wei, Junyang Zhao, Xiaolin Xu, Fufeng Wang
In addition to primordial germ cells (PGC) differentiation left–right separation is another embryologic milestone that has considerable impact on the distribution of mutant cells in an individual. Variant alleles that occur before the determination of the left and right body sides can affect both sides of the individual, presumably including both gonads. In birds and mammals it occurs at, or soon after, the 8-cell stage of development (19). The exact timing of left–right separation in humans has yet to be determined. In some patients with congenital hemidysplasia and ichthyosiform erythroderma and limb defects (CHILD) syndrome, there is a striking demarcation of affected and unaffected tissues along the midline. DNA analysis of such patients detected a heterozygous pathogenic allele (c.262C>T) in the NADH steroid dehydrogenase-like (NSDHL) gene in cultured fibroblasts from the skin of the affected side but not in those from the unaffected side (26–28). The mosaic RB1 pathogenic alleles caused unilateral retinoblastoma in most cases where the pathogenic allele-bearing cells were seemingly restricted to the affected half of the body. In fact, we observed bilateral, but asymmetrical, distribution of the mutant cells across both sides in each mosaic participant. In M4, M5 the affected eyes were even on the side of conjunctival epithelia with lower variant fractions. Variant alleles being present in both ectodermal and mesendodermal tissues and bilateral tissue distribution also suggest that mosaic RB1 variant alleles occur during very early development. This is consistent with the hypothesis that a heightened mutagenic process due to reduced repair and surveillance of genome stability may occur during earlier embryonic mitoses (29,30). In participant M1 sequencing outcomes in all 11 tissue samples revealed relatively high levels of mosaicism on right limbs but absence of variant allele on left limbs (VAF = 0%) (Figure 2). Interestingly, it appears that the pathogenic allele occurred after the left–right separation of epidermal tissue on limb even though mutant cells extended to both sides of conjunctival and oral epithelium. We propose that tissue migration boundaries may be less definitive. A few cells may migrate to the opposite side even after the left–right separation.