Conventional vs virtual autopsy with postmortem MRI in phenotypic characterization of stillbirths and fetal malformations.

OBJECTIVE: To compare virtual autopsy using postmortem magnetic resonance imaging (MRI) with conventional autopsy with respect to phenotypic characterization of stillbirths and malformed fetuses, and acceptability to parents. METHODS: This was a prospective diagnostic evaluation study, conducted from June 2013 to June 2015, including stillbirths and pregnancies terminated owing to fetal malformation at ≥ 20 weeks' gestation, for which parental consent to both conventional autopsy and postmortem MRI was obtained. Cases of maternal and obstetric cause of fetal demise were excluded. Whole-body postmortem MRI (at 1.5 T) was performed prior to conventional autopsy. Taking conventional autopsy as the diagnostic gold standard, postmortem MRI findings alone, or in conjunction with other minimally invasive prenatal and postmortem investigations, were assessed and compared for diagnostic accuracy. RESULTS: Parental consent for both conventional autopsy and postmortem MRI was obtained in 52 cases of which 43 were included in the analysis. In 35 (81.4%) cases, the final diagnosis based on virtual autopsy with postmortem MRI was in agreement with that of conventional autopsy. With conventional autopsy as the reference standard, sensitivity, specificity, positive and negative predictive values of postmortem MRI were, respectively: 77.7%, 99.8%, 97.4% and 98.0% for whole-body assessment; 93.1%, 99.0%, 87.1% and 99.5% for the nervous system; 61.0%, 100.0%, 100.0% and 96.7% for the cardiovascular system; 91.1%, 100.0%, 100.0% and 98.0% for the pulmonary system; 80.6%, 99.8%, 96.7% and 98.7% for the abdomen; 96.2%, 99.7%, 96.2% and 99.7% for the renal system; and 66.7%, 100.0%, 100.0% and 97.2% for the musculoskeletal system. Virtual autopsy was acceptable to 96.8% of families as compared with conventional autopsy to 82.5%. CONCLUSIONS: Virtual autopsy using postmortem MRI and other minimally invasive investigations can be an acceptable alternative to conventional autopsy when the latter is refused by the parents. Postmortem MRI is more acceptable to parents and can provide additional diagnostic information on brain and spinal cord malformations. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

Symphytum officinale augments osteogenesis in human bone marrow-derived mesenchymal stem cells in vitro as they differentiate into osteoblasts.

ETHNOPHARMACOLOGICAL RELEVANCE: Mesenchymal stem cells (MSCs) are multipotent stem cells possessing regenerative potential. Symphytum officinale (SO) is a medicinal plant and in homoeopathic literature, believed to accelerate bone healing. AIM OF THE STUDY: This study aimed to determine if homoeopathic doses of SO could augment osteogenesis in MSCs as they differentiate into osteoblasts in vitro. MATERIALS AND METHODS: Bone marrow samples were obtained from patients who underwent bone grafting procedures (n = 15). MSCs were isolated, expanded and characterized by flow cytometry (CD90, CD105). Cytotoxicity of SO was evaluated by MTT assay. Osteogenic differentiation was induced in MSCs with ß-glycerophosphate, ascorbic acid and dexamethasone over 2 weeks. Different homoeopathic doses of SO (MT, 3C, 6C, 12C and 30C) were added to the basic differentiation medium (BDM) and efficiency of MSCs differentiating into osteoblasts were measured by evaluating expression of Osteocalcin using flow cytometry, and alkaline phosphatase activity using ELISA. Gene expression analyses for osteoblast markers (Runx-2, Osteopontin and Osteocalcin) were evaluated in differentiated osteoblasts using qPCR. RESULTS: Flow cytometry (CD90, CD105) detected MSCs isolated from bone marrow (93-98%). MTT assay showed that the selected doses of SO did not induce any cytotoxicity in MSCs (24 hours). The efficiency of osteogenic differentiation (2 weeks) for different doses of Symphytum officinale was determined by flow cytometry (n = 10) for osteoblast marker, Osteocalcin, and most doses of Symphytum officinale enhanced osteogenesis. Interestingly, gene expression analysis for Runx-2 (n = 10), Osteopontin (n = 10), Osteocalcin (n = 10) and alkaline phosphatase activity (n = 8) also showed increased osteogenesis with the addition of Symphytum officinale to BDM, specially mother tincture. CONCLUSIONS: Our findings suggest that homoeopathic dose (specially mother tincture) of Symphytum officinale has the potential to enhance osteogenesis.

A rare case of intracranial solitary fibrous tumor of meninges: case report.

The authors report a case of intracranial tumor in a 60 year female, previously asymptomatic presenting with altered sensorium following a road traffic accident. Imaging showed a small left frontotemporal contusion along with a large right frontoparietal extra axial mass lesion suggestive of a meningioma. Patient improved significantly after craniotomy and tumour decompression. Histopathology with immunohistochemical analysis however revealed the presence of a solitary fibrous tumor of meninges. The case is reported in view of its rarity, atypical presentation and need to distinguish from meningiomas which they can mimic radiologically.

Fatal ovarian hyperstimulation syndrome in an anonymous egg donor.

Ovarian hyperstimulation syndrome is a rare, but potentially life-threatening iatrogenic disorder arising from ovulation induction or ovarian hyperstimulation for assisted reproduction techniques. We report a case of a 26-year-old multiparous woman, an anonymous egg donor, who died a few hours after undergoing a procedure to donate eggs at an in vitro fertilization clinic. Her husband alleged that medical negligence had led to her death. The autopsy confirmed death due to ovarian hyperstimulation syndrome. We know of no previous descriptions of fatal ovarian hyperstimulation syndrome in an anonymous egg donor in medico-legal literature.

Outcomes and prognostic factors for Ewing-family tumors of the extremities.

BACKGROUND: There are few published studies describing the clinical results of patients uniformly treated for a Ewing-family tumor of an extremity. METHODS: We performed a review of patients who had received uniform treatment consisting of neoadjuvant chemotherapy, surgery and/or radiation therapy as local treatment, and then adjuvant chemotherapy from June 2003 to November 2011 at a single institution. RESULTS: There were 158 patients included in the study. The median age was fifteen years. Sixty-nine (44%) of the patients had metastatic disease at presentation. Fifty-seven patients underwent surgery, and forty-one received radical radiation therapy following neoadjuvant chemotherapy. After a median of 24.3 months (range, 1.6 to ninety-seven months) of follow-up, the five-year event-free survival, overall survival, and local control rates (and standard error) were 24.1% ± 4.3%, 43.5% ± 6%, and 55% ± 6.8%, respectively, for the entire cohort and 36.4% ± 6.2%, 57.6% ± 7.4%, and 58.2% ± 7.9%, respectively, for patients without metastases. In the multivariate analysis, metastases predicted inferior event-free survival (p = 0.02) and overall survival (p = 0.03) rates in the entire cohort, whereas radical radiation therapy predicted an inferior local control rate in the entire cohort (p = 0.001) and in patients without metastases (p = 0.04). In the group with localized disease, there was no difference between the patients who received radical radiation therapy and those who underwent surgery with regard to tumor diameter (p = 0.8) or post-neoadjuvant chemotherapy response (p = 0.1). A white blood cell count (WBC) of >11 × 109/L predicted inferior event-free survival (p = 0.005) and local control (p = 0.02) rates for patients without metastases. CONCLUSIONS: To our knowledge, this is the largest study on extremity Ewing-family tumors treated with uniform chemotherapy and either surgical resection or radical radiation therapy in Asia. All possible efforts should be made to resect a primary tumor after neoadjuvant chemotherapy, as radical radiation therapy alone results in a poor local control rate despite a good post-neoadjuvant chemotherapy response. Patients without metastases but with a high WBC had inferior event-free survival and local control rates and may require more aggressive therapy. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Anaplastic ependymoma with cartilaginous and osseous metaplasia: report of a rare case and review of literature.

Gliomas with cartilaginous metaplasia are extremely uncommon and thought to be due to metaplasia of the mesenchymal supportive elements. The tumors are located in the midline, mostly fourth ventricle and rarely in the pons. The present paper describes an unusual case of anaplastic ependymoma with cartilaginous and osseous metaplasia in a young boy which was located in the suprasellar, interpeduncular prepontine and left cerebello-pontine cistern. To the best of our knowledge, this cartilaginous metaplasia in ependymomas has been reported only thrice.

Myxopapillary ependymoma of lumbosacral region with metastasis to both cerebellopontine angles: report of a rare case.

INTRODUCTION: Myxopapillary ependymomas are low grade tumours that are known to recur locally even after complete excision, but metastasis to distant sites is extremely uncommon. CASE REPORT: We report an unusual case of lumbo-sacral myxopapillary ependymoma in a 13-year-old boy with metastasis to both cerebellopontine angles. To the best of our knowledge, this is the youngest patient of metastatic myxopapillary ependymoma.