Merck Manual: Euthyroid Sick Syndrome

Link
Asking your doctor
to explain this
should be fun.

Why is health care so hazardous? What needs to be done to improve safety?

Statement of Lucian Leape, M.D.
Member, Quality of Health Care in America Committee
Institute of Medicine
Adjunct Professor, Harvard School of Public Health

Concerning Patient Safety and Medical Errors

Before the
United States Senate
Subcommittee on Labor, Health and Human Services, and Education

January 25, 2000

"Good morning, Mr. Chairman and Senator Kennedy, and members of the committee. My name is Lucian Leape and I am a faculty member at the Harvard School of Public Health. I practiced as a pediatric surgeon for much of my career, but in recent years have focused my attention on research into medical errors. I am here today representing the Institute of Medicine's Committee on the Quality of Health Care in America which recently released the report To Err is Human: Building a Safer Health System.

In my testimony today, I will address two questions: 1) Why is health care so hazardous? 2) What needs to be done to improve safety?

Why is health care so hazardous?

Findings from several studies of large numbers of hospitalized patients indicate that each year a million or more people are injured and as many as 100,000 die as a result of errors in their care. This makes medical care one of the leading causes of death, accounting for more lost lives than automobile accidents, breast cancer or AIDS. While these findings are not new, and some hospitals have improved their error reduction activities, clearly a much greater effort is needed to make health care safe.

No physician or nurse wants to hurt patients, and doctors, nurses, and other health workers are highly trained to be careful and take precautions to prevent mistakes. They are held and hold themselves to high standards. Paradoxically, it is precisely this exclusive focus on the individual's responsibility not to make mistakes, reinforced by punishment, that makes health care so unsafe.

The reason is that errors are seldom due to carelessness or lack of trying hard enough. More commonly, errors are caused by faulty systems, processes and conditions that lead people to make mistakes. They can be prevented by designing systems that make it hard for people to do something wrong and easy to do it right. Safe industries, such as aviation, chemical manufacturing, and nuclear power, learned this lesson long ago. While insisting on training and high standards of performance, they recognize these are insufficient to insure safety. They also pay attention to factors that affect performance, such as hours and work loads, work conditions, team relationships, and the design of tasks to make errors difficult to make. They create safety by design. Health care must do likewise.

Approaches that focus on punishing individuals instead of changing systems provide strong incentives for people to report only those errors they cannot hide. Thus, a punitive approach shuts off the information that is needed to identify faulty systems and create safer ones. In a punitive system, no one learns from their mistakes."



Link

Wikipedia: Congenital hypothyroidism, PAX8

Congenital hypothyroidism is the most common preventable cause of mental retardation. Few treatments in the practice of medicine provide as large a benefit for as small an effort.

Congenital hypothyroidism

PAX8

Ultrasound Images of Thyroid Dysgenesis and More

Link
Osler didn't have this fancy technology; doctors should be able to tell if half of something isn't there by sight and touch.

ICD Codes for Thyroid Disorders

http://www.icd9data.com/2009/Volume1/240-279/240-246/
Thyroid disorders
http://www.icd9data.com/2009/Volume1/240-279/240-246/243/default.htm
Congenital hypothyroidism
Myxedema

Resource: Werner and Ingbar's THE THYROID

Werner and Ingbar's THE THYROID is online at Google Books. This link leads to the chapter on Hypothyroid conditions.

BMJ - Genetics of Congenital Hypothyroidism

From the abstract:

Journal of Medical Genetics 2005;42:379-389; doi:10.1136/jmg.2004.024158
Copyright © 2005 by the BMJ Publishing Group Ltd.
REVIEW
Genetics of congenital hypothyroidism
S M Park1, V K K Chatterjee2

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK
2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital

Correspondence to:
Correspondence to:
Dr S M Park
Department of Clinical Genetics, Box 134, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK; soo-mi.park@addenbrookes.nhs.uk
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gs and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism.

Abbreviations: ERSD, endoplasmic reticulum storage disease; NIS, sodium iodide symporter; PHP, pseudohypoparathyroidism; PPHP, pseudopseudo-hypoparathyroidism; PTH, parathyroid hormone; TPO, thyroid peroxidase; TRH, thyrotropin releasing hormone; TSH, thyroid stimulating hormone (thyrotropin)

Keywords: congenital hypothyroidism; candidate gene

Link to abstracthttp://jmg.bmj.com/cgi/content/abstract/42/5/379



Link to pdf