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Abstract Adrenocortical tumors are uncommon in the pediatric population. We report a case of a pediatric patient with Beckwith Wiedemann Syndrome (BWS) who was found to have bilateral functional adrenal adenomas: one mineralocorticoid-secreting and one androgen-secreting. The patient ultimately underwent staged surgical resection of both masses, resulting in marked reduction in hormone levels. This case highlights the pathophysiology of adrenal adenomas, association between BWS and adrenal masses, and treatment challenges of bilateral adrenal masses.

Background Placental mesenchymal dysplasia (PMD) is a rare, benign, placental disorder characterised macroscopically by an enlarged multi-cystic placenta. It is a condition associated with a range of reported clinical outcomes and can be misdiagnosed as a molar or partial molar pregnancy given the similarities in clinical presentation. We present an unusual case of PMD complicated by fetal growth restriction and oligohydramnios in the second trimester. Case presentation A 33 year old female was referred to our fetal medicine unit with a multi-cystic placenta at dating scan suspected initially to be a partial molar pregnancy. She opted for conservative management and declined invasive testing. At 16 weeks severe fetal growth restriction was present with an estimated fetal weight < 3rd centile and associated with oligohydramnios. Whilst live births in cases of PMD have been reported in the literature, to our knowledge there are no reported successful outcomes in cases of early onset growth restriction at this gestation. The patient opted to proceed with termination of pregnancy given the suspected poor prognosis. Post mortem results confirmed a diagnosis of PMD and fetal growth restriction with normal genetic testing. Conclusions Placental mesenchymal dysplasia can be a difficult condition to manage, particularly when counselling about prognosis and deciding whether to continue the pregnancy. More evidence is needed about prognostic factors in PMD associated with a successful outcome. Early onset fetal growth restriction and/or oligohydramnios prior to 20 weeks are likely poor prognostic factors which should be considered in the antenatal counselling.

The electromagnetic guided wave transducer has been widely used in pipeline detection in recent years due to its non-contact energy conversion characteristics. Based on the Weidemann effect, an electromagnetic guided wave transducer that can realize the locating defect of the steel pipe was provided. Firstly, the principle of the transducer was analyzed based on the Weidemann effect. The basic structure of the transducer and the basic functions of each part were given. Secondly, the key structural parameters of the transducer were studied. Based on the size of the magnets and the coils, a protype electromagnetic guided wave transducer based on Wiedemann effect was developed. Finally, the experiments were carried out on the steel pipe with a defect using the developed transducer. The results show that the transducer can actuate and receive the T(0,1) and T(1,1) modes in the steel pipe. The axial positioning of the defect is located by moving the transducer axially. The circumferential positioning of the defect is located by rotating the transducer. Additionally, missed detection can be effectively avoided by rotating the transducer.

Saints' cults, with their focus on miraculous healings and pilgrimages, were not only a distinctive feature of Christian religion in fifth-and sixth-century Gaul but also a vital force in political and social life. Here Raymond Van Dam uses accounts of miracles performed by SS. Martin, Julian, and Hilary to provide a vivid and comprehensive depiction of some of the most influential saints' cults. Viewed within the context of ongoing tensions between paganism and Christianity and between Frankish kings and bishops, these cults tell much about the struggle for authority, the forming of communities, and the concept of sin and redemption in late Roman Gaul. Van Dam begins by describing the origins of the three cults, and discusses the career of Bishop Gregory of Tours, who benefited from the support of various patron saints and in turn promoted their cults. He then treats the political and religious dimensions of healing miracles--including their relation to Catholic theology and their use by bishops to challenge royal authority--and of pilgrimages to saints' shrines. The miracle stories, collected mainly by Gregory of Tours, appear in their first complete English translations.

Blood investigations including full blood count, C reactive protein, electrolytes, muscle enzymes (CK), liver, thyroid, bone profile, alpha feto protein and insulin-like growth factor 1 were normal. Answer to question 2 BWS is an overgrowth disorder with variable clinical presentation.1 At least 85% of BWS are not inherited and most are due to epigenetic changes on chromosome 11p15, most commonly gain of methylation at one imprinting control region IC1 (H19/IGF2: IG-DMR) or loss of methylation at a second imprint control region, IC2 (KCNQ1OT1; TSS-DMR) (figure 3). Box 1 Clinical features of Beckwith-Wiedemann spectrum Cardinal features (two points per feature) Macroglossia Exomphalos Lateralised overgrowth Multifocal and/or bilateral Wilms tumour or nephroblastomatosis Hyperinsulinism (lasting>1 week and requiring escalated treatment) Pathology findings: adrenal cortex cytomegaly, placental mesenchymal dysplasia or pancreatic adenomatosis Suggestive features (one point per feature) Birth weight>2 standard deviation above the mean Facial naevus simplex Polyhydramnios and/or placentomegaly Ear creases and/or pits Transient hypoglycaemia (lasting<1 week) Typical Beckwith Wiedemann Syndrome tumours (neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma) Nephromegaly and/or hepatomegaly Umbilical hernia and/or diastasis recti For a clinical diagnosis of classical Beckwith–Wiedemann syndrome (BWS), a patient requires a score of ≥4 (this clinical diagnosis does not require the molecular confirmation of an 11p15 anomaly).

Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs. A 26month old male child, the product of healthy nonconsanguineous parents has many typical features of Miller syndrome. He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and prominent nose together with the absence of the fifth ray in feet (postaxial) and fixation of interphalangeal joints of both thumbs (preaxial). However the limb affection is bilateral and symmetrical against what is usually reported (bilateral with more affection of one side) and the micrognathia is very mild. Our patient has also bilateral corneal opacities as well as underdeveloped external genitals. There is phenotypic variability in Miller syndrome, and our patient may represent a new distinct subgroup in postaxial acrofacial dysostosis.

Transient hyperinsulinism (HI) has been reported in infants born to mothers with diabetes mellitus, 1 in infants subjected to perinatal asphyxia, or intrauterine growth restriction, 2 in those born with Beckwith-Weidemann syndrome (BWS), 3 and in those with rhesus haemolytic disease. 4 The aetiology and mechanisms that underlie transient HI in some of these conditions remain poorly understood. The most common form of persistent HI is associated with mutations in the SUR1 (ABCC8) and KIR6.2 (KCNJ 11) genes, which cause loss of function of the KATP channel in the β cell membrane with unregulated secretion of insulin from the pancreatic β cell. 5 We report two cases of transient HI associated with macrosomia, severe hypertrophic obstructive cardiomyopathy (HOCM), hepatomegaly, and nephromegaly. Table 1 Results of the diagnostic fast Metabolite/hormone Case 1 Case 2 Blood glucose (mmol/l) 2.4 2.2 Plasma insulin (mU/l) 9.1 22.1 C peptide (mU/l) 401 1466 Non-esterified fatty acids (mmol/l) 0.06 0.21 β-hydroxybutyrate (mmol/l) <0.05 <0.01 Serum cortisol (nmol/l) 293 500 Serum growth hormone (mU/l) 94.7 38 Serum ammonia (μmol/l) 16 30 Enteral feeding was commenced, once stabilised, but caused persistent symptoms of vomiting and retching.

Somatic-cell hybrids have been shown to maintain the correct epigenetic chromatin states to study developmental globin gene expression as well as gene expression on the active and inactive X chromosomes. This suggests the potential use of somatic-cell hybrids containing either a maternal or a paternal human chromosome as a model system to study known imprinted genes and to identify as-yet-unknown imprinted genes. Testing gene expression by using reverse transcription followed by PCR, we show that functional imprints are maintained at four previously characterized 15q11-q13 loci in hybrids containing a single human chromosome 15 and at two chromosome 11p15 loci in hybrids containing a single chromosome 11. In contrast, three γ -aminobutyric acid type A receptor subunit genes in 15q12-q13 are nonimprinted. Furthermore, we have found that differential DNA methylation imprints at the SNRPN promoter and at a CpG island in 11p15 are also maintained in somatic-cell hybrids. Somatic-cell hybrids therefore are a valid and powerful system for studying known imprinted genes as well as for rapidly identifying new imprinted genes.