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Diencephalon-Mesencephalon Dysplasia, with Dysplastic Basal Ganglia, and Midline Fusion, a Case Report of Novel Appearances

Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain on axial Magnetic resonance imaging (MRI) sections (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial developmental hydrocephalus. We report one newborn with third-trimester fetal ultrasound (US) showing ventriculomegaly. After full-term delivery, the baby had microcephaly and generalized hypotonia, and MRI undertaken at age of 5 days, showed features of diencephalic-mesencephalic junction dysplasia (DMJD). The hypothalamic-midbrain fusion and midbrain butterfly sign could have been seen on fetal MRI, thus allowing for the prenatal diagnosis of DMJD, with implications for the surgical management of hydrocephalus and parental counseling.
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Synchronous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid Gland Associated to Untreated Midline Cervical Cleft: A Case Report

Thyroglossal duct cyst is the most common anomaly in thyroid development. Majority is benign, but 1% may be malignant. Papillary carcinoma is the most frequent thyroid cancer. The synchronous occurrence of thyroglossal duct cyst and thyroid carcinoma is rare and the association with another congenital malformation is extremely rarer. A 41-year-old woman was referred to our department with complaints of a midline cervical abnormality. Clinico-radiological evaluation suggested a thyroglossal duct cyst with non-palpable nodules of thyroid gland and a midline cleft with fibrous cord. Sistrunk’s procedure along with a total thyroidectomy associated to an excision and Z-plasty closure of this congenital cervical cleft were performed, followed by post-operative radioiodine ablation.
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Parental Midlife Body Shape Influences Offspring Self-Perception of Weight in a Cohort of Australian Adults

Self-perception and measures of body weight and central adiposity are key indicators of a population’s attitude and level of concern regarding obesity. Parental weight has been shown to be a strong determinant of adult offspring weight. This study initially investigates the association between self-perception, and measured body mass index (BMI) and waist circumference (WC), and characterised this association by perception type (pessimist, optimist and realist).
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Frenectomy as a Treatment Modality for Minimal Median Cleft of the Upper Lip

Cleft lip is a common craniofacial anomaly. Median cleft lip is a midline vertical cleft through the upper lip. Of all the types of clefts, minimal Median cleft of the upper lip is a very rare craniofacial anomaly.
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Triple Synchronous Colon Tumors Causing Large Bowel Obstruction

We would like to present two patients with triple localized, synchronous colon tumors who underwent emergency operations for obstruction. The second and third localizations were discovered during the operation.
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Molecular Mechanisms of Mismatch Repair Genes in Cancer – A Brief Review

The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.
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Editorial Board Members Related to IDL

Janet Liversidge

Professor
School of Medicine and Dentistry
University of Aberdeen Institute of Medical Sciences
United Kingdom
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