Mid-Aortic Syndrome in a 3-Year-Old Girl Successfully Treated by Aorto�CAortic Grafting and Renal Artery Implantation into the Graft

Mid-aortic syndrome, an uncommon acquired or congenital condition characterized by segmental narrowing of the abdominal or distal descending thoracic aorta, is frequently accompanied by ostial stenosis of the aorta''s branches. If left untreated, it can result in life-threatening complications secondary to severe hypertension.We report the case of a 3-year-old girl with congenital mid-aortic syndrome, who was diagnosed by chance in the course of a viral illness, and whose high blood pressure values were first dismissed as inaccurate. Attempts to achieve medical or endovascular control of her hypertension were unsuccessful. She was thereafter successfully treated by aorto–aortic bypass grafting, resection of the stenotic segments of both renal arteries, and implantation of the patent arterial segments into the graft.Key words: Angioplasty, balloon; aorta, abdominal/abnormalities; aortic coarctation/etiology/surgery; arterial occlusive diseases/surgery; child; hypertension, renal/etiology/surgery; mid-aortic syndrome; reconstructive surgical procedures/methods; renal artery obstruction/surgeryMid-aortic syndrome, an uncommon condition characterized by segmental narrowing of the abdominal or distal descending thoracic aorta, is frequently accompanied by ostial stenosis of its branches.^1–5 It can be acquired or congenital. Acquired causes of mid-aortic syndrome include neurofibromatosis, fibromuscular dysplasia, retroperitoneal fibrosis, Williams syndrome, mucopolysaccharidosis, giant cell arteritis (Takayasu disease, temporal arteritis), and acquired insults in utero or in early life that result in developmental disorders of the growing aorta.^1–13 Congenital mid-aortic syndrome is caused by a developmental anomaly in the fusion and maturation of the paired embryonic dorsal aortas and typically manifests itself in young patients.^6,14–19 We report the case of a 3-year-old girl with congenital mid-aortic syndrome, who was diagnosed by chance in the course of a viral illness and in whom high blood pressure values had at first been dismissed as inaccurate. Attempts to achieve medical or endovascular control of her hypertension were unsuccessful, so she was treated surgically.     

Variability in Stroop Task Performance and Functional Activation among a Small Brain-Injured Group

This study evaluated the effects of moderate to severe brain injury on cognitive task performance and cortical activation. Five participants completed a Stroop task while undergoing functional magnetic resonance imaging (fMRI) at two time points post-injury. Results revealed activation within regions typically activated during a Stroop task (the region of interest: ROI), though variability among participants was evident. Regions outside of the ROI were activated among all participants, to a greater degree than was present within the ROIs. This finding may indicate that recruitment of outside regions was necessary for successful task completion at both time points, and may suggest functional plasticity in cognitive task completion.     

Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

Defects in dystroglycan post-translational modification result in congenital muscular dystrophy with or without additional eye and brain involvement, are referred to as secondary dystroglycanopathies and have been associated with mutations in 11 different genes encoding glycosyltransferases or associated proteins. However, only one patient with a mutation in the dystroglycan encoding gene DAG1 itself has been described before. We here report a homozygous novel DAG1 missense mutation c.2006G>T predicted to result in the amino acid substitution p.Cys669Phe in the β-subunit of dystroglycan in two Libyan siblings. The affected girls presented with a severe muscle–eye–brain disease-like phenotype with distinct additional findings of macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leucoencephalopathy with subcortical cysts. This novel clinical phenotype observed in our patients further expands the clinical spectrum of dystroglycanopathies and suggests a role of DAG1 not only for dystroglycanopathies but also for some forms of more extensive and multicystic leucodystrophy.     

Change in Proportional Protein Intake in a 10-Week Energy-Restricted Low- or High-Fat Diet,in Relation to Changes in Body Size and Metabolic Factors

ObjectiveTo investigate in a secondary analysis of a randomised trial the effects of a low-/high-fat diet and reported change from baseline in energy% from protein (prot%), in relation to changes in body size and metabolic factors.MethodsObese adults (n = 771) were randomised to a 600 kcal energy-deficient low-fat (20-25 fat%) or high-fat (40-45 fat%) diet over 10 weeks. Dietary intake data at baseline and during the intervention were available in 585 completers. We used linear regression to calculate the combined effects of randomised group and groups of prot% change (<−2 /−2 to 2/>2) on outcomes.ResultsThe low-fat group with >2 prot% increase lost 1.1 kg more weight (p = 0.03) and reduced cholesterol by 0.25 mmol/l more (p = 0.003) than the high-fat group with >2 prot% decrease. These differences were 2.5-fold and 1.8-fold greater than the differences between the low-fat and high-fat groups while not considering prot% change. The high-fat group reduced plasma triglycerides more than the low-fat group, but not compared to those in the low-fat group with >2 units prot% increase (p fat-protein interaction = 0.01).ConclusionsUnder energy restriction, participants on a low-fat diet who had increased the percentage energy intake from protein showed the greatest reduction in weight and cholesterol, and a triglyceride reduction equally large to that of participants on a high-fat diet.Key Words: Obesity, Dietary fats, Dietary proteins, Lipids, Blood glucose     

Refractory hypertension: definition, prevalence, and patient characteristics

Among patients with resistant hypertension (RHTN), there are those whose blood pressure (BP) remains uncontrolled in spite of maximal medical therapy. This retrospective analysis aims to characterize these patients with refractory hypertension. Refractory hypertension was defined as BP that remained uncontrolled after ≥3 visits to a hypertension clinic within a minimum 6-month follow-up period. Of the 304 patients referred for RHTN, 29 (9.5%) remained refractory to treatment. Patients with refractory hypertension and those with controlled RHTN had similar aldosterone levels and plasma renin activity (PRA). Patients with refractory hypertension had higher baseline BP (175±23/97±15 mm Hg vs 158±25/89±15 mm Hg; P=.001/.005) and heart rate, and higher rates of prior stroke and congestive heart failure. During follow-up, the BP of patients with refractory hypertension remained uncontrolled (168.4±14.8/93.8±17.7 mm Hg) in spite of use of an average of 6 antihypertensive medications, while those of patients with controlled RHTN decreased to 129.3±11.2/77.6±10.8 mm Hg. Spironolactone reduced the BP by 12.9±17.8/6.6±13.7 mm Hg in patients with refractory hypertension and by 24.1±16.7/9.2±12.0 mm Hg in patients with controlled RHTN. In patients with RHTN, approximately 10% remain refractory to treatment. Similar aldosterone and PRA levels and a diminished response to spironolactone suggest that aldosterone excess does not explain the treatment failure.     

Opposing prognostic relevance of junction plakoglobin in distinct prostate cancer patient subsets

Both oncogenic and tumor suppressor functions have been described for junction plakoglobin (JUP), also known as γ‐catenin. To clarify the role of JUP in prostate cancer, JUP protein expression was immunohistochemically detected in a tissue microarray containing 11 267 individual prostatectomy specimens. Considering all patients, high JUP expression was associated with adverse tumor stage (P = 0.0002), high Gleason grade (P < 0.0001), and lymph node metastases (P = 0.011). These associations were driven mainly by the subset without TMPRSS2:ERG fusion, in which high JUP expression was an independent predictor of poor prognosis (multivariate analyses, P = 0.0054) and early biochemical recurrence (P = 0.0003). High JUP expression was further linked to strong androgen receptor expression (P < 0.0001), high cell proliferation, and PTEN and FOXP1 deletion (P < 0.0001). In the ERG‐negative subset, high JUP expression was additionally linked to MAP3K7 (P = 0.0007) and CHD1 deletion (P = 0.0021). Contrasting the overall prognostic effect of JUP, low JUP expression indicated poor prognosis in the fraction of CHD1‐deleted patients (P = 0.039). In this subset, the association of high JUP and high cell proliferation was specifically absent. In conclusion, the controversial biological roles of JUP are reflected by antagonistic prognostic effects in distinct prostate cancer patient subsets.     

Prevalence of the human papillomavirus (HPV) expression of the inner prepuce in asymptomatic boys and men

Objective

To investigate the prevalence of high-risk (HR) and low-risk (LR) human papillomavirus (HPV) in prepuces of boys and men without any HPV related lesions.

Patients and methods

Between 2009 and 2011, a total collective of 250 boys and men were investigated in this prospective study. The samples were subdivided into 3 groups regarding their age, consisting of 125 (50 %) children (0–10 years), 38 (15.2 %) adolescents (11–20 years) and 87 (34.8 %) adults (>20 years). In situ hybridization (ISH) was performed to detect HR and LR virus types within the epithelium, followed by microscopic interpretation and determination between episomal and integrative signal pattern.

Results

Our results revealed high levels of HPV concentration (HR and LR) in all age groups: HR versus LR positivity was seen in 45.5 versus 35 % (children), 60.6 versus 63.6 % (adolescents) and 58.3 versus 48.6 % (adults). The topmost rate of HR (59.8 %)- and LR (50.6 %)-positive probes was found in the group with high estimated sexual activity (>14 years).

Conclusion

Concerning the high prevalence of male HPV infection even in children, indicating non-sexual transmission pathways, inclusion of boys in the vaccination program seems to be required reducing their burden of HPV related disease.     

Guiding Breast-Conserving Surgery in Patients After Neoadjuvant Systemic Therapy for Breast Cancer: A Comparison of Radioactive Seed Localization with the ROLL Technique

Background

Radioguided occult lesion localization (ROLL) with technetium-99 m colloid (ROLL-^99mTc) is commonly used to perform breast-conserving surgery in patients with nonpalpable breast tumors. Radioactive seed localization is a relatively new technique that localizes the tumor with a radioactive iodine-125 (¹²⁵I) seed. The feasibility and outcome of these techniques after neoadjuvant systemic treatment has not been widely investigated.

Methods

All patients treated with neoadjuvant systemic treatment between 2007 and 2010 in the Netherlands Cancer Institute who underwent breast-conserving surgery with the ROLL-^99mTc technique (n = 83) or with ¹²⁵I seed localization (n = 71) were analyzed. The weight of the resected specimen, the margins, and the percentage of patients requiring a second surgical intervention as a result of positive margins were assessed.

Results

Patient and tumor characteristics and systemic treatment regimens were comparable between both groups. The median weight of the resected specimen (53 vs. 48 g), the median smallest margin (3.5 vs. 3.0 mm), and the risk for additional surgery for incomplete resections (7 vs. 8 %) did not differ significantly between patients treated with the ROLL-^99mTc technique and ¹²⁵I seed localization.

Conclusions

The ROLL-^99mTc technique and ¹²⁵I seed localization demonstrate comparable results when used to perform breast-conserving surgery after neoadjuvant systemic treatment. Because ¹²⁵I seed localization does not require additional radiological localization shortly before surgery, it simplifies surgery scheduling. Therefore, we prefer ¹²⁵I seed localization to perform breast-conserving surgery after neoadjuvant systemic treatment.