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In this interrupted case study, students shadow an endocrinologist as she tries to determine what is wrong with Angela Barber. Angela is a middle-aged woman presenting with symptoms suggestive of a thyroid issue. Students are given background information, patient history, and results from thyroid-specific blood tests. The exercise emphasizes the hypothalamic-pituitary-thyroid axis and particularly highlights the role of negative feedback. Students will use results from serum thyrotropin and thyroid hormone level tests, as well as patient symptoms, to come up with a diagnosis. In preparation for the diagnosis, students are asked to compare the endocrine profiles of patients with Graves' disease, Hashimoto's disease, iodine deficiency (primary hypothyroidism), and various tumors. The case was developed for college-level biology majors in a physiology course, but also has been used successfully for pre-nursing students in a non-majors anatomy and physiology course. Thus, this activity would be suitable for majors in physiology or pre-medical students, as well as allied health majors.

Meet five fellow Pompe patients as they recount their own experiences with the diagnostic journey. You are sure to find bits of your own story in theirs. The road to diagnosis can be riddled with uncertainty, an array of specialists all looking for an answer, and even misdiagnosis. That is undoubtedly why many people living with Pompe welcome the moment a physician delivers the correct diagnosis. Finally, an answer; a name for what has been happening all these years.

As the leader of a project called Finding of Rare Disease Genes (FORGE) in Canada, Kym Boycott is one of the top experts in the world in the application of exome sequencing to solve rare disorders. The Canadian project involves a network of doctors and scientists all across the country looking to identify patients with rare childhood conditions and refer them when appropriate for sequencing and analysis.

Most siblings with a diagnosis of autism do not share the same genetic risk factors for the disorder and are as distinct in their behaviors as any brothers and sisters, scientists reported on Monday in a study that came as a surprise to many doctors, if not to parents.

Diagnosis article, woman kept passing out

Hyper-IgM syndrome is an X-linked genetic disorder more commonly affecting males than females. It is caused by the lack of heavy chain class-switching from IgM to other isotypes. Patients with hyper-IgM syndrome are susceptible to a variety of infections as demonstrated in this medical case study. Students are presented patient information, symptoms and a diagnosis that must be interpreted. The case was written for use with the team-based learning (TBL) format involving groups of 4-5 students per group, but it could also be completed as an individual project. The case is targeted to premedical/allied health advanced students and is appropriate for any immunology course at the undergraduate or graduate level in a biomedical science program, or health-related professional courses such as advanced physiology, pathophysiology, microbiology, or histology and cytology.

Microsoft scientists have demonstrated that by analyzing large samples of search engine queries they may in some cases be able to identify internet users who are suffering from pancreatic cancer, even before they have received a diagnosis of the disease.

Microsoft scientists have demonstrated that by analyzing large samples of search engine queries they may in some cases be able to identify internet users who are suffering from pancreatic cancer, even before they have received a diagnosis of the disease.

This case study is based on the 2014 Ebola epidemic that spread to multiple highly populated countries in West Africa, making it the largest and most devastating outbreak in the history of the virus. The storyline, inspired by a compilation of factual information, unfolds through a fictional narrative wherein students play the role of an infectious disease specialist in training to learn about the techniques used in the detection, diagnosis, and management of Ebola virus outbreaks. The story is presented as an interrupted "clicker case" that combines problem-based case teaching methods with simulated biological laboratory inquiry through the use of Case It, a free molecular biology software, along with the NCBI's online bioinformatics tools and databases. Students work in groups to collaboratively explore various biological and social aspects of this infectious disease outbreak. This case was developed for senior students at the secondary level and can be modified for use in an introductory biology, microbiology, or epidemiology course at the undergraduate level.

Known officially as the Tuskegee Study of Untreated Syphilis in the Negro Male, the 40-year experiment run by Public Health Service officials followed 600 rural black men in Alabama with syphilis over the course of their lives, refusing to tell patients their diagnosis, refusing to treat them for the debilitating disease, and actively denying some of them treatment.

Common tests used in cancer diagnostics

Since their development in the mid-1990s, DNA microarrays have become a key tool in the fight against cancer. But just how do they help diagnose and treat patients?  Article with related links

Cold Spring Harbour cancer site, sections include: Hallmarks of Cancer Causes and Prevention Diagnosis and Treatment Pathways to Cancer

This integrative case study is based on real events that the author experienced with her ten-year-old daughter. Although the names have been changed, all of the events (symptoms, diagnoses and treatments, types of healthcare professionals) are recorded exactly as they occurred. Both asthma and pneumonia are common in the United States (and globally). Many of the drugs described in the case study are frequently prescribed for a wide variety of ailments. The four "episodes" that constitute the case cover 1) a study of asthma triggers, incidence and treatment; 2) side effects and possible medication errors associated with steroids; 3) causes, diagnosis, treatment and prevention of community-acquired bacterial pneumonia; and 4) the mechanism of action of two different antibiotics. The "epilogue" explores a few larger themes related to healthcare and public health (e.g., continuity of care, drug resistance, asthma prevention programs). The case study could be used in an undergraduate, upper-level, infectious disease, microbiology, public health or physiology course or in a graduate-level health professions program.

The STAR-G Project has put together fact sheets about disorders commonly screened for by newborn screening. The fact sheets were written specifically for families that have received an initial diagnosis of one of the disorders and want to know more general information. They address issues and answer questions that are of particular concern to parents. Each fact sheet was written by a genetic counselor and reviewed by metabolic and genetic specialists.

When Beatrice Rienhoff was born in 2003 following an uneventful, full-term pregnancy, she was breathing well and had good color and muscle tone. She was on the small side, and there were some other subtle clues that something might be amiss. Her fingers and toes, especially on the right side of her body, were bent.

Genetic research is leading to the development of more genetic tests that can be used for the diagnosis of genetic conditions. Genetic testing is available for infants, children, and adults. Genetic tests can be used to diagnose a disease in an individual with symptoms and to help measure risk of developing a disease. Adults can undergo preconception testing before deciding to become pregnant, and prenatal testing can be performed during a pregnancy. Results of genetic tests can help physicians select appropriate treatments for their patients.

A new study from the Monell Center, the U.S. Department of Agriculture (USDA), and collaborating institutions reports a uniquely identifiable odor signature from mouse models of Alzheimer's disease. The odor signature appears in urine before significant development of Alzheimer-related brain pathology, suggesting that it may be possible to develop a non-invasive tool for early diagnosis of Alzheimer's disease.

This flipped case study explores how the topics of membrane structure, transport, and signaling via membrane-bound receptors are intimately associated with the paralysis of muscle targeted by botulinum neurotoxin. The case scenario revolves around a fictitious socialite that has requested the assistance of her personal concierge physician with a condition that has developed after having participated in a Hamptons Botox party. The physician and a shadowing pre-med undergraduate chat about the molecular mechanisms behind Botox induced muscle paralysis. The case is designed as an engaging capstone exercise for students to gain appreciation for how knowledge of basic cellular and molecular biology mechanisms are essential for pharmaceutical development and medical patient diagnosis and prognosis. Written for an undergraduate general biology course, the case is also suitable for use in courses such as cellular biology, neurobiology, or human physiology.

"This case study uses a PowerPoint presentation to guide students through two activities designed to teach them about the basics of coronavirus diagnosis and transmission. The first activity involves a set of five "clicker questions" that students answer using either a personal response system, online polling application, or show of hands as they consider symptoms and test results of a hypothetical patient. The second activity is an outbreak simulation in which students consider the spread of a pathogen in various geographical settings and from different perspectives. Students work together to draft a list of precautions that could be taken to limit the spread of the disease and minimize healthy individuals' risk of contracting it. The simulation is designed for a biology lesson pertaining to outbreaks. Although coronavirus is used as the model, the concepts of disease transmission and prevention covered in this case are relevant to many diseases."