J Obstet Gynaecol Can 2021 07 6;43(7):796. Epub 2020 Feb 6.
Department of Obstetrics and Gynecology, Dr. Babasaheb Ambedkar Medical College and Hospital, New Delhi, India.
Int J Surg Case Rep 2021 Sep 6;87:106371. Epub 2021 Sep 6.
Department of Otolaryngology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Introduction And Importance: Nasopharyngeal carcinoma (NPC) is considered a rare malignant head and neck tumour. However, the importance of genetics and environmental factors in the epidemiology of NPC is still unclear. Twins represent an excellent study population for genetic epidemiology; this is especially true of monozygotic-type twins because they are genetically identical. Read More
Int J Infect Dis 2021 Sep 18. Epub 2021 Sep 18.
AP-HP, Infectious Diseases Department, Tenon Hospital, Sorbonne Université, Paris, France. Electronic address:
We report a case of black-grain eumycetoma co-localized with Mycobacterium tuberculosis infection, presenting as a painless leg abscess and associated with vertebral tuberculosis. The rare association of these two pathogens raises several challenges regarding foreseeable drug interactions, side effects, the most appropriate management and the potential link between these two diseases. Read More
Presse Med 2021 Sep 19:104073. Epub 2021 Sep 19.
Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy.
Lipodystrophy syndromes are rare, heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue and are classified according to the extent of fat loss in generalized or partial subtypes, or based on the pathogenic mechanisms in genetic or acquired. While in most cases of congenital forms of lipodystrophy a genetic alteration can be identified, the pathogenic mechanisms responsible for the acquired diseases are not fully clarified. Based on the evidence of a positive association between most acquired lipodystrophies and autoimmune disorders including immune mediated alterations in the adipose tissue of patients affected by acquired lipodystrophy, a reaction against white adipose tissue antigens is postulated. Read More
Am J Hum Genet 2021 Sep 14. Epub 2021 Sep 14.
Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly that is often accompanied by other anomalies. Although the role of genetics in the pathogenesis of CDH has been established, only a small number of disease-associated genes have been identified. To further investigate the genetics of CDH, we analyzed de novo coding variants in 827 proband-parent trios and confirmed an overall significant enrichment of damaging de novo variants, especially in constrained genes. Read More
J Pediatr Endocrinol Metab 2021 Sep 22. Epub 2021 Sep 22.
Department of Paediatrics, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, 600100, India.
Objectives: Myxedema crisis, a fatal complication of severe hypothyroidism, is extremely rare in children and treatment guidelines are lacking. Since availability of intravenous levothyroxine is limited in resource poor settings, myxedema crisis can be treated with oral levothyroxine and/or oral liothyronine (if necessary), in the absence of cardiac risk factors, thus hastening the recovery and significantly decreasing the associated morbidity and mortality. In the background of untreated hypothyroidism, a possible association of ovarian hyperstimulation syndrome (OHSS) and reactive pituitary hyperplasia should be kept in mind, thus preventing unnecessary interventions. Read More