Карточка-задание по английскому языку на тему «MEDICAL WRITING: CASE ABSTRACT_496»

КАРТОЧКА-ЗАДАНИЕ НА ТЕМУ

«MEDICAL WRITING: CASE ABSTRACT_496»

Warm-up

·         What is a medical case report?

·         What parts does it include?

·         What is an abstract?

Read the abstract of the medical case report:

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

Abstract

Background

Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange syndrome.

Case presentation

A two-month-old Iranian boy who showed multiple congenital anomalies was referred to the genetic center of a welfare organization in southwest Iran. He was the second child of a non-consanguineous marriage, born after full term with normal delivery. His birth weight was 3110 g, his length was 46 cm and his head circumference was 30 cm. Both parents were clinically asymptomatic, with no positive history of any deformity in their respective families.

Conclusions

Sequencing of the NIPBL gene from our patient revealed a single-base deletion of thymidine in exon 10 (c.516delT). This mutation presumably results in premature termination at codon 526. We did not observe this mutation in the parents of our patient with Cornelia de Lange syndrome. The results presented here enlarge the spectrum of NIPBL gene mutations associated with Cornelia de Lange syndrome by identifying a novel de novo mutation in an Iranian patient with Cornelia de Lange syndrome and further support the hypothesis that NIPBL mutations are disease-causing mutations leading to Cornelia de Lange syndrome.

Find in the abstract:

·         Background

·         Why is it important

·         Needs to be reported

Answer the questions:

1.       Is this the first report of this kind in the literature?

2.       What are brief details of what the patient(s) presented with?

3.       What the reader should learn from the case report?

4.       What the clinical impact will be?

5.       Is it an original case report of interest to a particular clinical specialty of medicine?

6.       Will it have a broader clinical impact across medicine?

7.       Are any teaching points identified?

Follow-up

·         Why abstract is the most important part for case published in electronic databases?

·         What are basics of abstract writing?