Annals of translational medicine

Endometriosis is a chronic disease characterized by the presence of hormone-responsive endometriotic glands and stroma outside the uterus that affect at least 4% of reproductive age women (1). It may be asymptomatic, but it frequently cause…

BACKGROUND: Non-elective freeze-all policy has been increasingly utilized in assisted reproductive treatment, but the optimal timing of frozen-thawed embryo transfer (FET) after controlled ovarian stimulation (COS) remains to be investigate…

Adenomyosis is a gynecologic disorder characterized by the presence of ectopic endometrial tissue within the uterine myometrium. It can involve most of the myometrium (diffuse adenomyosis), it may be present only in a circumscribed part of …

Pulmonary ground glass opacity (GGO) is becoming an important clinical dilemma in oncology as its diagnosis in clinical practice is increasing due to the introduction of low dose computed tomography (CT) scan and screening. The incidence of…

Endometriosis is a very frequent estrogen-dependent gynecological disease, that affects up to 10% of all reproductive-aged women. The hallmark of endometriosis is the pathological growth of ectopic endometrial-like tissue outside of the ute…

Mediastinal Mullerian cyst was first reported by Hattori in 2005. We report a case of a posterior mediastinal paravertebral cyst found incidentally by surveillance chest roentgenogram in a 44-year-old woman. She had a "no drain" uniportal t…

Endometriosis is a chronic estrogen-dependent disease affecting 5–10% of women in reproductive age (1). Although it can be asymptomatic in a minority of the cases, the main symptoms and signs include chronic pelvic pain, dysmenorrhea, pain …

Ovarian cancer (OC) represents the most lethal gynecological cancer and the poor prognosis is often attributable to late diagnosis. The diagnostic approach to woman presenting with pelvic mass is difficult and differential diagnosis often r…

BACKGROUND: Acute abdominal pain (AAP) accounts for 7-10% of all Emergency Department (ED) visits. Nevertheless, the epidemiology of AAP in the ED is scarcely known. The aim of this study was to investigate the epidemiology and the outcomes…

The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) is a Clinical Genomic Diagnostic Pipeline operating within the clinical service at Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinica…

Genetic factors contribute to risk for many common traits and diseases affecting reproduction and fertility. We have used genome-wide association (GWA) studies to understand the genetic architecture and discover genomic regions associated w…

The hemoglobinopathies, collectively, are cause for significant morbidity and mortality. Children are the most severely affected. Despite much of the genetics and biology of hemoglobinopathies being known for a long time, and being used suc…

Endometriosis is a common, chronic gynaecological disease characterised by pelvic pain and sub-fertility. It is a complex genetic disease affecting of 6-10% women of reproductive age and up to 50% of women with infertility. Evidence from ge…

Still many cases with probable hereditary myopathy are genetically undiagnosed for two major reasons: (I) muscle genes are often big in size and thus it is difficult to at least routinely sequence such genes even though mutations in those g…

Master level genetic counseling training programs have existed in the United States of America (USA) since 1969. There are now 31 programs to train genetic counselors in the USA, 4 programs in Canada, and 2 programs in Australia. These prog…

Background Gardner’s syndrome is an autosomal dominant disorder with complete penetrance, caused by mutations in the adenomatous polyposis coli gene(APC gene). Gardner’s syndrome is characterized by intestinal polyposis, osteomas and dental…

In several studies, scientists asserted that many of endocrine disruptors (EDs), which have been involved in developmental, reproductive, neural, immunological, and other problems in wildlife and laboratory animals. Some environmental EDs, …

BACKGROUND: Acute appendicitis is a common presentation in surgical assessment units and appendectomy accounts for a large number of emergency operations in the UK. Histopathological examination of the appendectomy specimens are routinely c…

Endometriosis is a common and serious illness affecting women in their reproductive years. Despite the ongoing interest and intensive research of this crippling disease, the cause remains unknown since its first description over 150 years a…