Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

Rapid Death Due to Alcohol Withdrawal Syndrome: Case Report and Review of Literature

Background: Alcohol withdrawal syndrome (AWS) is one of the most serious complications associated with chronic alcoholism. Sudden deaths are not uncommon in AWS. In severe stages of AWS, delirium tremens (DT) occurs, which is characterized with agitation, global confusion, disorientation, visual and auditory hallucinations in addition to autonomic hyperactivity. Case report: A 30-year old man, ...

Uniparental disomy and prenatal phenotype

RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...

Myoclonus-dystonia due to maternal uniparental disomy.

BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...

Multi-Organ Failure due to Paraquat Poisoning: Case Report and Review of Literature

Blindness Due to Hyaluronic Acid Filler Injection: A Case Report and Review of Literature

Purpose: To Report a case of blindness due to hyaluronic acid filler injection. Case Report: A 28-year-old female patient was referred to our clinic with complaints of vision loss in the left eye, which occurred one hour after hyaluronic acid filler injection for correction of detachment trough hollowness. In the ophthalmologic examination, relative afferent pupillary defect (RAPD) was positive...