Unremarkable Delivery Research Articles

DICER1-Mutant Thyroid Carcinoma of Unusual Morphology: A Follicular Carcinoma with Bizarre Nuclei or a Novel Entity?

Abstract Introduction/Objective DICER1 mutations are associated with a host of benign and malignant neoplasms, of which the thyroid ranks among those with the highest prevalence. We present a case of a DICER1-mutant thyroid carcinoma with unusual morphologic features not described in the existing literature. Methods/Case Report A 29-year old 33 weeks pregnant female presented with swelling of the left neck. The patient subsequently underwent an ultrasound, which revealed a thyroid lesion measuring 6.2cm in greatest dimension. Labs including TSH and free T4 wree within normal 3rd trimester limits. Following an unremarkable delivery, FNA revealed loosely clustered cells with marked hyperchromasia and nuclear pleomorphism and variable microfollicular architecture in a colloid-containing background. Though definitively malignant, the anomalous cytomorphology of this neoplasm prompted molecular testing by Afirma Genomic Sequencing Classifier and Xpression Atlas next-generation sequencing, which was significant for a DICER1 hotspot mutation (p.E1705K c.5113G>A). Follow-up total thyroidectomy was pertinent for a tan-red, nodular mass involving 95% of the thyroid. Histomorphology revealed a neoplasm of primarily macrofollicular architecture with scattered microfollicles and intervening zones that appeared poorly-to-undifferentiated. Cells demonstrated bizarre hyperchromatic, pleomorphic nuclei with multinucleation and Azzopardi effect. Capsular invasion was identified. Inconsistent with a poorly-differentiated or anaplastic carcinoma, the mitotic rate and Ki-67 index were low at < 1/2mm2 and 1-2%, respectively. The tumor was consequently theorized to represent a follicular carcinoma with bizarre nuclei or other entity associated with DICER1 mutations not previously described. To date, no recurrence or metastasis has occurred. Results (if a Case Study enter NA) NA Conclusion We report an enigmatic morphology of a thyroid cancer associated with a DICER1 mutation. DICER1 mutations have been hitherto described in follicular carcinoma, papillary carcinoma, poorly-differentiated carcinoma and thyroblastoma, none of which are consistent with the present case. Thus, we conjecture that this morphomolecular profile may constitute a "follicular carcinoma with bizarre nuclei" or other novel entity not previously reported. Further investigation should be pursued to determine the nature of this entity, its pathophysiology, epidemiology, possible association with germline DICER1 syndrome, and relationship between morphology and prognosis in patients with DICER1 mutations.

32795 The neonatal “blueberry muffin rash” – Act fast and get tissue

A 6-day-old, full-term female, with no prenatal complications and an unremarkable delivery, presented with 2 purplish, brown, asymptomatic bumps since birth. She was otherwise well, breast feeding, and gaining weight appropriately. On examination, there were two 1-cm, well-demarcated, firm, violaceous nodules on her abdomen and right forearm, with dermoscopy showing homogenous brown discoloration. No lymphadenopathy, hepatosplenomegaly, alopecia, or other rash was noted. Punch biopsy revealed an unremarkable epidermis.

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy was uneventful with subsequent unremarkable delivery. The parents are Arabs′first cousins with no apparent symptoms or signs of bone disease. Three dimensional brain computed tomography (CT) showed ventriculomegaly, thick calvaria, and CS of the coronal and sagittal sutures. Patient had signs of left lower motor neuron facial palsy, and CT of petrous bones confirms the presence of osteopetrotic petrous with slim mastoid portions of the facial nerve canals both sides. Brain magnetic resonance imaging showed CM1. Skeletal survey showed sclerotic skeleton. He needed ventriculoperitoneal shunt and died at 18 months of age. Molecular testing for OSTEM1 gene revealed novel homozygous mutation that segregated from his parents. This novel OSTEM1 gene novel mutation and the combination of OP, infantile CS, and CM1 is to our knowledge never been reported.

Rash of Motorcycle Accidents: A Growing National Health Concern

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When do Aided Auditory Thresholds Reach the Speech Spectrum after Cochlear Implant Switch on?

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The Voice Test for Newborn Hearing Screening

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Parenchymale Hirnblutungen bei reifen Neugeborenen nach unauffälligem Spontanpartus

Hintergrund: Symptomatische Hirnblutungen treten bei reifen Neugeborenen (NG) vor allem in Abhängigkeit vom Geburtsmodus auf. Bei unauffälliger Spontangeburt einer Erstgebärenden liegt die Häufigkeit ca. bei 1: 2000. Die Letalität beträgt ca. 5 %. Pathophysiologisch kommt es unter der Geburt zu Scherkräften an den venösen Blutleitern, die meist zu primär subduralen Blutungen führen. Die häufigsten Symptome sind Apnoen und Krampfanfälle.

Familial Report of Duplication 9p Syndrome

Duplication 9p syndrome is a clinically well described syndrome characterized by growth retardation, developmental delay, skeletal malformations and craniofacial anomalies. We report a family starting with a male infant born by c-section at 39 weeks gestation to a 38 yo G6 P 4-0-1-4. The pregnancy was remarkable for an abnormal MSAFP placing the pregnancy at a 1:17 risk for Down Syndrome. The parents refused amniocentesis after receiving genetic counseling. At 35 weeks gestation a fetal ultrasound demonstrated mild polyhydraminos, borderline hydrocephalus, and a unilateral right pyelectasis along with a proximal hydroureter. The patient had an unremarkable delivery at an outside institution with Apgars of 9 and 10. Birth weight was 4790g (>95%). Ten hours post delivery the patient began to develop significant lymphedema of the right lower extremity which is what brought him to our attention. On presentation the patient appeared with bitemporal narrowing, short palpebral fissures, and small deep set eyes. The right extremity showed significant edema involving the foot extending to the distal portion of the thigh. An x-ray of the extremity showed no fracture. A cat scan of the head demonstrated diffuse cerebral volume loss with a slightly promineni left ventricle when compared to the right. A small left subdural hygroma was also noted A cardiac echocardiogram and a renal ultrasound were both normal. Cytogenetic study on peripheral blood lymphocytes revealed additional material on 9p. A FISH paint for chromosome 9 indicated that the extra material was duplication of 9. The G-banding pattern suggested duplication of 9p13p22. Peripheral blood was obtained from both parents and an identical karyotype was found in the mother. The mother was noted to have similar phenotvpic features to the proband, namely short palpebral fissures and small deep set eyes. The mother reported having a learning disability as a child completing only a 9th grade education. Further family history showed the mother to have three other children all with another partner ages 11, 16, and 19 years of age. All 3 half siblings to the proband are reported as “slow”. These siblings are currently being worked up cytogenetically. Since first described m 1970. more than 100 cases have been reported with a duplication involving various size segments of the 9p chromosome. Familial cases have been reported with much less frequency. The clinical features and cytogenetic findings as compared to previous reported cases will be presented.

Erbsche Lähmung ohne Schulterdystokie: Neuere Aspekte bei der gutachterlichen Beurteilung.Vorstellungen zur vorgeburtlichen Entstehung kindlicher Plexusläsionen - Erb's Palsy without Shoulder Dystocia: More Recent Aspects for Experts' Appraisement. Concepts concerning prenatal development of plexus lesions in neonates -

Shoulder dystocia with subsequent brachial plexus lesions in neonates is a common reason for obstetric liability litigation. Trauma during delivery is often assumed to be directly responsible for the lesion. We recently gave an expert opinion in a case involving Erb's palsy after an unremarkable delivery with no evidence of shoulder dystocia. We review the recent North American literature on plexus lesions in neonates without shoulder dystocia. The analysis of neonates with Erb's paralysis after delivery without shoulder dystocia, particularly after atraumatic cesarean delivery, have led to a new concept of prenatal (in utero) development of plexus lesions. These cases are inconsistent with the traditional concept of plexus lesions due to trauma sustained at delivery. In this group the traditional risk factors for shoulder dystocia play only a minor role. Overall, at least 50% of neonatal brachial plexus lesions result from unavoidable antepartum or intrapartum events and occur without shoulder dystocia. Antenatal brachial plexus lesions may result from stretching forces or pressure exerted on the plexus in utero by uterine anomalies (e.g., leiomyomas, intrauterine septa, bicornuate uterus) or other factors. Abnormal forces of labor may also play a role. The concept of Erb's paralysis unrelated to trauma at delivery and shoulder dystocia has medicolegal implications.

Breastfeeding: Toward resolution of the unsatisfying birth experience

The act of birth and the way that it is managed have great meaning for many women. What may appear to professionals as a routine or unremarkable delivery may be perceived by the mother as humiliating, mutilating, or dehumanizing. If the mother has an extremely negative perception of her birth experience, she will suffer a loss of self esteem, and it is more likely that she will have difficulty taking on the maternal role. A successful breastfeeding experience builds up a mother's confidence and self esteem and facilitates acquisition of the maternal role. The problem with relying upon breastfeeding to determine or establish maternal identity is that failure or untimely termination may occur for a variety of reasons. Anticipatory guidance and emotional support are the primary approaches to be used in helping a mother to nurse her baby for as long as she wants.