Objectives
Current surgical policy recommends comprehensive excision of tumorous calcifications in breast cancer patients following neoadjuvant chemotherapy (NAC) regardless of MRI outcomes, despite ...MRI defining tumor response superior to mammography. The current study examines MRI prediction of response in tumors with vs without calcifications, using post-NAC surgical pathology as the standard of reference.
Methods
Retrospective analysis of 114 NAC patients between 2011 and 2018 including demographics, mammography, 3 T-MRI, and pathology compared two sub-groups: without (
n
= 62) or with (
n
= 52) mammographic calcifications. In the calcification cohort, the mammographic extent of calcifications and MRI enhancement overlapped. MRI prediction of response to NAC was correlated with pathology. Two-tailed paired
T
and Fisher’s exact tests and Cohen’s kappa coefficient were applied for analysis.
Results
There was no significant difference between the two sub-groups regarding demographics. Tumors demonstrated equivalent features regarding size, lymph node involvement, and DCIS component. ER-negative/HER2-positive tumors more commonly exhibited calcifications (33%
n
= 17 calcified vs 13%
n
= 8 non-calcified;
p
< 0.05); triple negative pathology rarely calcified (6%
n
= 3 calcified vs 33%
n
= 20 non-calcified;
p
< 0.05). NME was more common with calcifications (62%
n
= 32 calcified vs 29%
n
= 18 non-calcified;
p
< 0.05) and mass enhancement without (90%
n
= 56 non-calcified vs 81%
n
= 42 calcified;
p
< 0.05). Both groups responded similarly to NAC (pCR = 37% non-calcified vs 38% calcified); response on MRI equally correlated with pathology (69% both subgroups;
p
= 0.988).
Conclusion
We propose utilizing post-NAC MRI findings rather than mammography in planning surgery, as MRI prediction is independent of the presence or absence of calcifications. Prospective studies to evaluate this approach are warranted.
Key Points
•
No difference was found in demographic, clinical, pathology, or imaging characteristics between patients with or without tumoral calcifications on mammography prior to neoadjuvant chemotherapy
.
•
Residual mammographic calcifications are inadequate predictors of residual invasive disease. MRI accurately recognized complete response and correctly correlated with post-treatment surgical pathology in 69% of patients, regardless of the presence or absence of mammographic calcifications
.
•
We propose utilizing post-NAC MRI findings rather than mammography in planning post-NAC surgery, as MRI prediction of response is independent of the presence or absence of calcifications
.
This case series examines cardiac MRI findings in four children and adolescents admitted to intensive care in April 2020 for multisystem inflammatory syndrome and Kawasaki disease-like features ...related to coronavirus disease 2019 (COVID-19). Acute myocarditis occurred less than 1 week after onset of fever and gastrointestinal symptoms. Physical examination showed rash and cheilitis or conjunctivitis. All patients recovered after intravenous immunoglobulin therapy. Severe acute respiratory syndrome coronavirus 2 reverse transcription polymerase chain reaction was negative in nasopharyngeal, stool, and respiratory samples and was positive on serology. Cardiac MRI showed diffuse myocardial edema on T2 short tau inversion-recovery sequences and native T1 mapping, with no evidence of late gadolinium enhancement suggestive of replacement fibrosis or focal necrosis. These findings favor postinfectious myocarditis in children and adolescents with COVID-19.
Aim
We aimed to evaluate the risk of developing adolescent scoliosis among recipients of recombinant human growth hormone (rhGH).
Methods
This registry‐based cohort study included 1314 individuals ...who initiated rhGH treatment since 2013, treated during 10–18 years of age for at least 6 months. This group was matched to a comparison group of 6570 individuals not treated with rhGH. Demographic and clinical information was extracted from the electronic database. The results are presented using hazard ratios (HR) and 95% confidence intervals (CI).
Results
During a median follow‐up of 4.2 years, 59 (4.5%) rhGH recipients and 141 individuals (2.1%) from the comparison group were diagnosed with adolescent scoliosis. The age at diagnosis did not differ between the groups (14.7 versus 14.3 years, p = 0.095). Patients treated with rhGH were more likely diagnosed with scoliosis (HR 2.12, 95% CI 1.55–2.88, p < 0.001). Among males, the risk was about three times greater in the treated versus the comparison group (HR 3.15, 95% CI 2.12–4.68, p < 0.001), while in females the risk was not increased (HR 1.12, 95% CI 0.72–2.04, p = 0.469).
Conclusions
Recombinant human growth hormone treatment was associated with an increased risk to be diagnosed with adolescent scoliosis in males. Scoliosis development should be monitored appropriately in rhGH recipients.
The aim of this grounded theory study was to understand parents' emotions and coping strategies regarding their child's initial placement in an Israeli special education kindergarten. Proper ...placement is essential to effectively support children with developmental disabilities (DD), yet parents tend to approach assessment procedures with dread. Semi-structured in-depth interviews were held with 60 parents of children with DD (ages 4-6) who underwent placement procedures in the previous two years. Qualitative content analysis revealed three themes: external emotions of worry about the future, shame, fear of stigma, and trust issues towards professional staff; internal coping strategies of rationalisation and denial; external coping strategies of concealment and search for help. Findings revealed parents' emotions were directed towards their surroundings, whilst coping strategies were directed both inwards and outwards. Therefore, the majority of the parents' emotions and coping strategies focused on external social aspects. This in-depth understanding of parents' reactions to the placement process may help educational staff focus their support on external attributes, thereby strengthening the staff-parent partnership and easing the entry process of children with DD into special education kindergartens.
Aim
Children with inflammatory bowel disease (IBD) are prone to low bone mineral density (BMD). Our aim was to assess longitudinal changes in BMD in this population.
Methods
A retrospective ...longitudinal study of children with IBD, treated at two tertiary centres in Israel, who underwent two BMD measurements by dual‐energy X‐ray absorptiometry (DXA). Changes in lumbar spine BMD (∆L1‐4 z‐scores) were examined for correlations with clinical characteristics.
Results
The cohort included 41 patients (age at diagnosis 12.1 ± 3.5 years, 23 females).The mean interval between the scans was 3.4 ± 2.0 years. There was a trend towards improvement in L1‐4 z‐scores (−1.64 ± 1.02 vs −1.45 ± 0.83, P = .12). ∆L1‐4 z‐scores correlated positively with ∆weight‐standard deviation scores (SDS), ∆height‐SDS and ∆BMI‐SDS, and with age at the second scan (R = .55, P < .01; R = .42, P < .01; R = .42, P = .01; R = .35, P = .02, respectively); and negatively with L1‐4 z‐scores at the first scan (R = −.63, P < .01). Stepwise linear regression analysis identified the first scan L1‐4 z‐scores and ∆weight‐SDS as independent predictors of ∆L1‐4 z‐scores. An L1‐4 z‐score ≤−2 at the first DXA scan was associated with significant improvement at the second scan.
Conclusion
Improvement in BMD was more pronounced in children who gained weight or whose BMD was low at the first scan.
Maternal depression across the postbirth period has long-term negative consequences for infant development. Little is known of the neurobiological underpinnings, but they could involve oxytocin, a ...neuropeptide that is dysfunctional in depression and is implicated in birth and parenting.
The authors recruited a community cohort of women with high or low depression scores 2 days after childbirth and measured depression again at 6 and 9 months. When the child was 6, the authors evaluated the families of 46 chronically depressed mothers and 103 mothers reporting no depression since childbirth. The child was assessed for psychiatric diagnoses, social engagement, and empathy. Mother, father, and child were tested for salivary oxytocin level and variation in the rs2254298 single nucleotide polymorphism on the OXTR gene.
Of the children of the chronically depressed mothers, 61% displayed axis I disorders, mainly anxiety and oppositional defiant disorder, compared with 15% of the children of nondepressed mothers. In the depressed mothers' families, salivary oxytocin was lower in mothers, fathers, and children, and the children had lower empathy and social engagement levels. The rs2254298 GG homozygous genotype was overrepresented in depressed mothers and their families, and it correlated with lower salivary oxytocin. Presence of a single rs2254298 A allele (GA or AA genotype) in depressed mothers markedly decreased risk of child psychopathology.
The negative effect of chronic maternal depression on child social outcomes was related to genetic and peripheral biomarkers of the oxytocin system. This suggests a potential for oxytocin-based interventions.
Blood‐contaminated fingermarks (FMs) found in violent crime scenes may directly connect the suspect to the crime by linking the FM to the suspect and the DNA from the blood to the victim. However, ...marks that are incomparable are considered “dead‐evidence” as the link to the suspect is lost. In this study, a novel approach was attempted to uncover the trace amount of touch DNA of the suspect in such marks. We examined the effect of two enhancement methods, ninhydrin (NIN) and amido black (AB), on DNA recovery from blood‐contaminated FMs. A total of 108 fingerprints were deposited in three sets of depleted blood prints, blood‐contaminated FMs, and latent FMs. All FMs were developed by either NIN or AB, or left undeveloped as reference followed by the quantification of the total DNA amount. This work shows that while AB had a detrimental effect on the quantity of blood‐derived DNA specifically, reducing it by half, no similar effect was observed for touch DNA in latent FMs. This reduction led to the alteration of the major‐to‐minor DNA profile ratio to 70:30, thus enabling to obtain two distinct DNA profiles of the suspect from the touch DNA as well as the victim's profile from the blood. From an operational perspective, the use of AB in crime scenes may have an added value to retrieve the crucial DNA profile of the suspect, thus resurrecting a “dead‐evidence.”
Neonatal osteoma cutis due to a mutation in GNAS Levy‐Shraga, Yael; Barel, Ortal; Javasky, Elisheva ...
Pediatric dermatology,
September/October 2019, 2019-Sep, 2019-09-00, 20190901, Letnik:
36, Številka:
5
Journal Article
Recenzirano
We describe a 4‐week‐old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, ...phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.
The V2 protein of tomato yellow leaf curl geminivirus (TYLCV) functions as an RNA-silencing suppressor that counteracts the innate immune response of the host plant. The host-cell target of V2, ...however, remains unknown. Here we show that V2 interacts directly with SlSGS3, the tomato homolog of the Arabidopsis SGS3 protein (AtSGS3), which is known to be involved in the RNA-silencing pathway. SlSGS3 genetically complemented an AtSGS3 mutation and restored RNA silencing, indicating that SlSGS3 is indeed a functional homolog of AtSGS3. A point mutant of V2 that is unable to bind SlSGS3 also lost its ability to suppress RNA silencing, suggesting a correlation between the V2-SlSGS3 interaction in planta and the suppressor activity of V2.
Aim
Endocrine abnormalities in Williams–Beuren syndrome (WBS) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a ...national cohort of children with WBS.
Methods
A retrospective study comprising a national cohort of individuals with WBS in Israel (16 males, 18 females) followed between 2010 and 2016.
Results
The age at diagnosis of WBS was 1.4 ± 1.0 years. Height standard deviation score (SDS) at last visit was correlated with the midparental height SDS (r = 0.46 p = 0.007). Yet, participants did not reach their midparental height, with a difference of 1.40 ± 0.85SD (p < 0.001). Short stature below the 3rd percentile was found in 14 participants (41%). Mean insulin‐like growth factor 1 SDS was low (−0.61 ± 1.64) and was correlated with the mean height SDS (r = 0.63 p = 0.038). Two participants were diagnosed with growth hormone deficiency, and initiation of growth hormone treatment improved their height velocity. A total of eight participants (23.5%) had mild hypercalcaemia, five girls (14.7%) had precocious puberty and five participants (14.7%) had thyroid abnormalities.
Conclusion
Individuals with WBS had a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low‐normal range. Precocious puberty, hypercalcaemia and thyroid abnormalities should be screened for and treated as needed.
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