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The Role of AI and Deep Learning in Diagnosing Rare Diseases through Electronic Medical Records

Teaser: 

D'Arcy Little MD CCFP FCFP FRCPC,

Medical Director, Journal of Current Clinical Care and www.healthplexus.net, Adjunct Clinical Lecturer, Departments of Medical Imaging and Family Medicine, University of Toronto, Toronto, ON.

CLINICAL TOOLS

Abstract: This essay provides a comprehensive overview of how AI and deep learning can enhance the diagnosis of rare diseases by analyzing EMRs, highlighting both the potential benefits and challenges.
Key Words: AI, deep learning, EMRs, diagnosis, benefits, challenges.
AI and Deep Learning in Healthcare: AI, particularly deep learning, is capable of processing vast amounts of data from Electronic Medical Records (EMRs) to detect patterns associated with rare diseases. This helps clinicians identify subtle signals that may be missed in traditional diagnostic approaches.
EMRs as Rich Data Sources: EMRs house a wealth of information, including clinical notes, lab results, imaging studies, and treatment histories. AI can analyze this complex data and identify patterns that point to rare diseases, which are often missed due to the low prevalence and variability in clinical presentation.
Natural Language Processing (NLP): One of the most valuable applications of AI is its ability to analyze unstructured clinical notes using NLP. This allows AI to extract relevant symptoms, disease progression, and treatment responses that may suggest a rare disease.
Integration of Multi-Modal Data: AI’s strength lies in its ability to combine multiple types of medical data, such as genetic information, imaging studies, and clinical findings. This comprehensive approach is particularly useful in diagnosing rare diseases that require a holistic view of a patient’s health.
Clinical Decision Support: AI can be embedded in clinical decision support systems to offer real-time diagnostic suggestions, including considerations for rare diseases. This reduces diagnostic delays, which are common with rare conditions, and guides healthcare providers to further testing or specialist referrals.
Early Diagnosis of Rare Diseases: AI can recognize unique combinations of symptoms and lab findings that may indicate a rare disease early in the patient’s clinical course, allowing for quicker intervention and improved patient outcomes.
NLP Unlocks Hidden Insights: Clinical notes, which are often unstructured, contain valuable information that can be missed by manual review. NLP algorithms can uncover subtle indicators of rare diseases that can lead to earlier recognition and diagnosis.
Enhanced Diagnostic Accuracy: By combining genetic data, imaging, and clinical information, AI provides a more accurate diagnosis for complex cases, especially when rare diseases are involved, making the diagnostic process more reliable.
Real-Time Decision Support: AI-driven clinical decision support systems can flag less common conditions and suggest rare diseases for consideration when typical diagnoses do not fit. This prompts clinicians to think beyond common conditions.
Ethical Considerations in AI Use: Although AI has tremendous potential, its recommendations should be used in conjunction with clinical judgment. Providers should ensure they understand AI-generated insights to avoid over-reliance on automated systems and maintain patient-centered care.
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Unknown Origins of Syncope

Teaser: 

Dr. M.S. Alam, MD, MBBS, CCFP, FCFP

Clinical Lecturer, Cumming School of Medicine, Calgary, University of Calgary, Family Medicine Department, Calgary, AB.

CLINICAL TOOLS

Abstract: Syncope is generally categorized by such known causes as vasovagal syncope, situational syncope, postural syncope, neurologic syncope, postural-orthostatic tachycardia syndrome, and unknown causes. The unknown causes of syncope can be challenging to diagnose and treat since possible causes can range from benign to life-threatening. This article will focus on unknown cases with no evident cause.
Key Words: syncope, unknown causes, diagnosis, treatment.
Incidents of syncope with unknown origin can be challenging to diagnose and treat since possible causes can range from benign to life-threatening.
One of the challenges associated with diagnosing and treating syncope is the plethora of possible causes.
Concrete guidelines for syncope risk assessment would prove to be an invaluable tool in urgent and emergent care environments as well as in family medicine clinics. A standardized approach to syncope cases with unknown origin will improve patient care immeasurably.
No matter whether an incident involving syncope is benign or potentially high risk, any injury sustained should be addressed according to ATLS, ACLS, and PALS guidelines.
The ability to flag patients who are at high risk for morbidity and mortality, judicial use of diagnostic tools.
In 50 % of patients, the cause of a syncope incident will not be evident; a risk stratification (scoring) system ranging from low to intermediate to high would be beneficial.
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What is Pediatric Alopecia Areata?

Teaser: 

Kailie Luan,1 Joseph M. Lam, MD, FRCPC,2

1Faculty of Medicine, University of Alberta, Edmonton, AB.
2Clinical Assistant Professor, Department of Pediatrics and Dermatology, University of British Columbia, BC.

CLINICAL TOOLS

Abstract: Alopecia areata is a chronic immune-mediated disorder that causes nonscarring hair loss. Although most commonly causing discrete hair loss on the scalp, the condition can affect any hair bearing area of the body and cause significant emotional and psychosocial distress. While intralesional glucocorticoids are often used as initial treatment for adults with the condition, therapeutic options for children are more limited with concerns of treatment tolerability and potential side effects. This article aims to provide an overview of alopecia areata with particular focus on managing this chronic condition in children.
Key Words: Alopecia areata, clinical presentation, diagnosis, management, pediatrics.
Alopecia areata is a chronic relapsing disorder characterized by non scarring hair loss that can affect any hair-bearing area of the body
While intralesional glucocorticoids are often used as initial treatment for adults, potent topical corticosteroids are effective as first line therapy in children due to better treatment tolerability
The diagnosis is generally made on clinical grounds with the majority of patients presenting with limited patchy disease affecting the scalp
In cases of inadequate response, topical minoxidil or immunotherapy are additional options, with systemic corticosteroids and immunosuppressive agents reserved for refractory cases, and IL-2 and JAK inhibitors as new emerging therapies for AA
Not all patients with alopecia areata require treatment as up to 50 percent of patients with limited alopecia areata will experience spontaneous regrowth of hair.4
Due to the benign nature of alopecia areata, and spontaneous remission is common, watchful waiting is considered a reasonable option in cases of limited disease.
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Five Things to Know about Cauda Equina Syndrome

Teaser: 

Drew A. Bednar, MDCM, FRCS(C), FAAOS,

Clinical Professor of Orthopedic Surgery, Adult Spine Surgeon, McMaster University, Hamilton, ON.

CLINICAL TOOLS

Abstract: Cauda Equina Syndrome (CES) is a rare progressive syndrome of pain and neurological deficits below the waist caused by massive central lumbar disc prolapse. The most common clinical presentation is highly variable with multifocal mixed polyradicular deficits. Loss of bladder and/or bowel control can be subtle and is frequently not the patient' chief complaint. These symptoms must be aggressively sought by the assessing physician. While delays of a few hours in the diagnosis and management may not be deleterious, definitive lumbar MRI imaging and (if positive) surgical care referral are emergent.
Key Words: Cauda Equina Syndrome; Presentation; Diagnosis; Outcome.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

www.cfpc.ca/Mainpro_M2

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The CES patient often presents with rapidly escalating, poorly controlled pain. There may be daily or even more frequent physician visits.
While standing, the CES patient commonly adopts a "sciatic scoliosis": forward bending at the waist and leaning to either side as they attempt to decompress themselves. They may limp or need walking aids. These features help distinguish them from drug-seekers or malingerers.
Since patients are distracted by extreme pain, they may not reliably volunteer a history of bladder/bowel disturbance.
Cauda Equina Syndrome is an acute or subacute pathology caused specifically by massive central prolapse of a lumbar disc. Decompensation lumbar spinal stenosis is not Cauda Equina Syndrome.
Cauda Equina Syndrome most commonly presents with complaints of back or leg pain. These differ from common sciatica in being rapidly progressive, difficult to control with analgesics and often associated with considerable locomotor impairment.
The neurological examination in Cauda Equina Syndrome most commonly finds a mixed pattern of incomplete polyradicular deficits in the distribution of multiple lumbar and sacral nerve roots involving either of the legs and/or the saddle (perineum). The classically described complete flaccidity with loss of all motor control from the waist down is extremely rare.
Patients presenting with CES will not commonly volunteer complaints of incontinence or urinary retention as they are often overwhelmed by the magnitude of their pain. The assessor must specifically ask about bowel/bladder function and when indicated, test these by bladder scanning or catheterizing and a digital rectal examination.
As a rapidly evolving syndrome of neurological deterioration, CES warrants emergent imaging investigation and referral. Although the literature is not precise on the critical time point, it is widely accepted that patients should receive surgical intervention within 24 to 48 hours.
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Normal Pressure Hydrocephalus: Diagnosis and Treatment Options

Normal Pressure Hydrocephalus: Diagnosis and Treatment Options

Teaser: 

Alfonso Fasano, MD, PhD

Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada, Krembil Research Institute, Toronto, Ontario, Canada.

CLINICAL TOOLS

Abstract: Normal pressure hydrocephalus (NPH) is a relatively frequent but underdiagnosed geriatric disorder with symptoms of impaired gait and balance, overactive bladder, and cognitive decline in the presence of neuroimaging evidence of ventriculomegaly. Cerebrospinal fluid shunting is an effective treatment, although patients' response is variable, sometimes of short duration, and not always predictable. This might be due to poor patient selection or delayed surgery. Nevertheless, recent trials have indicated that shunt surgery is cost-effective and should therefore be recommended. Family physicians and general neurologists play a crucial role in ensuring a proper diagnosis and timely intervention.
Key Words: normal pressure hydrocephalus, diagnosis, treatment.

Family physicians have a crucial role in ensuring a proper diagnosis and timely intervention. In this respect, a few rules should be remembered:
1. NPH is common among elderly populations in Western countries, but it is largely underdiagnosed and undertreated.8
2. NPH is one of the few reversible chronic neurological conditions in the elderly because neurosurgical shunting is an effective treatment, especially if performed early.36
3. Gait and balance impairment are early signs of NPH and not all 3 of the triad symptoms should be present in order raise a suspicion of NPH and refer the patient to a neurologist.36
4. Any patient with at least one symptom of the NPH triad should undergo a brain MRI or computed tomography CT (if MRI is contraindicated).36
5. Important MRI/CT findings are an Evans index >0.3 and DESH, which should be investigated because it might mimic brain atrophy.33
A suspicion of NPH should be raised for those patients with gradually progressive gait disorders characterized by instability (broad base) and shuffling steps; no other parkinsonian signs should be noticed, particularly in the upper body. Urinary dysfunction might be absent and cognitive problems are typically less severe than the motor problem (particularly at onset). In a patient with a clinical suspicion of NPH, brain MRI should be ordered and a referral to a neurologist should be made.
The neurologist will exclude other neurodegenerative conditions and other clinically relevant diseases affecting gait (e.g. neuropathy, spinal stenosis). Afterwards a tap test will be arranged, bearing in mind that the sensitivity of the test is far from ideal and that patients are prone to placebo response. When the suspicion of NPH remains high (also in case of negative tap test) a referral to neurosurgeon is made by the neurologist. In less clear-cut cases, another tap test or prolonged lumbar drainage can be done. Some other cases are only clinically followed-up, however taking into account that a delayed intervention might not provide the benefit of early surgery.
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Disclaimer: 
This article was published as part of Managing the Health of Your Aging Patient: Therapies that Could Help Improve Quality of Life eCME resource. The development of Managing the Health of Your Aging Patient: Therapies that Could Help Improve Quality of Life eCME resource was supported by an educational grant from Medtronic Canada.

Surgical Management of Erectile Dysfunction

Teaser: 

Justin J. Badal, MD,1 Genevieve Sweet, MD, 2Shelley Godley, MD,3Stanley A. Yap, MD,4Dana Nanigian, MD, 5

1Department of Urology, University of California Davis, Sacramento, California.
2Department of Urology, Sutter Medical Group, Roseville, California.
3Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.
4Department of Urology, University of California Davis, Sacramento, California and Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.
5Chief of Urology, Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.

CLINICAL TOOLS

Abstract: Erectile dysfunction (ED) is one of the most common sexual disorders affecting men. Discussion regarding erectile function, diagnosis, and management of the disease typically begins at the primary care level. A broad understanding of the basic causative factors and initial treatment regimens gives primary care physicians the ability to treat ED. An enhanced understanding of surgical options allows for referrals to be made to urologists for advanced surgical treatment of ED in patients who have failed medical therapies. Initial diagnosis and continued workup can be performed prior to consultation with a surgical specialist. Detailed here are different causes of ED as well as their respective studies to enhance initial surgical evaluation.
Key Words:erectile dysfunction, diagnosis, management, treatment.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

www.cfpc.ca/Mainpro_M2

You can take quizzes without subscribing; however, your results will not be stored. Subscribers will have access to their quiz results for future reference.

A thorough discussion regarding the irreversibility of penile implants is strongly recommended with the patient before proceeding.
Inflatable penile prosthetics avoid the effect of the constant erection created by malleable implants.
Partner satisfaction is highest with the inflatable penile prosthesis.
The inflatable penile prosthesis is the most preferred among men.
Adverse events/complications associated with SNM use include: pain at the implantation site, lead migration, wound-related complications, bowel dysfunction, infection, and generator problems.
Postoperative outcomes can be improved with detailed counseling in regards to modifiable risk factors, such as achieving appropriate glycemic control.
Candidates for revascularization therapy should be carefully selected, with those who are younger and have sustained pelvic trauma having the best outcomes.
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Diagnostic Radiology in Low Back Pain

Diagnostic Radiology in Low Back Pain

Teaser: 

Dr. Ted Findlay, D.O., CCFP,1 Amar Suchak, MD, FRCP(C),2

1Clinical Assistant Professor, Department of Medicine, University of Calgary, Private Family Medicine practice, Medical Staff, Alberta Health Services, Calgary Zone, Calgary, Alberta.
2Clinical Assistant Professor Department of Radiology, Department of Nuclear Medicine, University of Calgary, Calgary, Alberta.

CLINICAL TOOLS

Abstract: Many clinicians believe that imaging is necessary to accurately diagnose and manage low back pain. However, there is good evidence that in the absence of "Red Flags", there is an overuse of both routine X-rays and advanced diagnostic imaging such as MRI. When imaging is used without appropriate clinical indications, it is rare for the results to lead to a change in a treatment plan. Management is based on adequate history and confirmatory physical examination. This article uses three actual cases as the basis for exploring the place of diagnostic imaging in treating low back pain.
Key Words: low back pain, diagnosis, radiology, indications, appropriate.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

www.cfpc.ca/Mainpro_M2

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1. While imaging may be required in the management of specific cases of low back pain particularly when "Red Flags" are present, it is rare that unexpected findings will result in a change of the treatment plan.
2. Be very cautious about the terminology used to describe the results of imaging studies and whenever possible normalize the results for the patient. Many abnormal findings may be "normal" for patients in older age groups. Many may be present in patients who are pain free.
3. Ensure that the patient understands that the results of the images are not necessarily a barrier to recovery.
4. Except to establish the boney contours of the spine, when advanced imaging is required an MRI examination is often the preferred option.
5. Be very cautious about attributing the cause of a patient's pain to the results found on imaging. Careful correlation with the clinical presentation is required before deciding on any change in treatment.
In the absence of clinical "Red Flags", there is no indication to image the spine before initiating treatment.
It is never appropriate to delay treatment for mechanical low back pain to wait for an imaging procedure.
Prepare the patient, before advanced imaging is performed, that there is a very high likelihood that the investigation will find "abnormalities" but that these changes are usually the result of natural aging and no cause for concern.
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Managing Adolescent Idiopathic Scoliosis (AIS) in Primary Care

Managing Adolescent Idiopathic Scoliosis (AIS) in Primary Care

Teaser: 

Paul J. Moroz, MD, MSc, FRCSC,1 Jessica Romeo, RN (EC), MN, BScN,2Marcel Abouassaly, MD, FRCSC,3

1Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario.
2Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario.
3Fellow in Pediatric Orthopedic Surgery at the Children's Hospital of Eastern Ontario, Ottawa, Ontario.

CLINICAL TOOLS

Abstract: Adolescent Idiopathic Scoliosis (AIS) is a condition requiring early detection for appropriate management. Bracing can be effective in preventing curve progression so failing to detect a small AIS curve in a growing child could result in losing the opportunity to avoid a major surgical procedure. Doubts about cost-effectiveness have ended most school screening programs and assessment is now provided mainly by primary care providers. The ability to conduct a quick effective scoliosis examination is important for the busy practitioner. This article illustrates the main features of the screening test, offers guides for imaging, and outlines appropriate tips for specialist referral.
Key Words: Adolescent Idiopathic Scoliosis (AIS), diagnosis, physical exam, Adams Forward Bend Test, primary care.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

www.cfpc.ca/Mainpro_M2

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1. This can be done with a patient's gown open or closed at the back.
2. The measurement is performed with the examiner sitting and observing the patient from behind. It can be done at the same time as the AFBT, since the examiner is in the same position.
3. With the patient standing erect in bare feet and with the knees extended, the examiner rests his/her hands on top of the iliac crests with fingers extended and palms parallel to the floor. With both the patient's feet flat on the floor, the relative levels of the hands give a surprisingly sensitive estimate of significant LLD (Figure 2).
4. There are alternative methods to measure leg lengths with the patient supine by using a tape measure. These techniques require familiarity with pelvic and ankle landmarks, are time consuming and are remarkably prone to measurement errors.
IMAGING FOR SUSPECTED SPINAL DEFORMITY
1. Radiation exposure using modern radiographic techniques, including digital radiography, is significantly lower than in the past.5
2. Radiologists' reports may use terms related to the spine that can be misleading and worrisome. Cobb angles less than 10 degrees should not be described as scoliosis but rather as "spinal asymmetry" since the term "scoliosis" may prompt an unnecessary referral to a specialist.
3. If imaging is indicated, it is best done at a centre where the patient will be seen in consultation. Radiologists at these centres have the experience to accurately interpret imaging results and correctly report spinal deformity. This also avoids the unfortunate situation where inadequate imaging done elsewhere must be repeated at the referral centre, significantly increasing the patient's radiation dose.
4. Never order a "scoliosis series". It is an obsolete term that referred to pre-operative assessment films. It is still found on some x-ray requisition forms and may be ordered in a misguided attempt to provide the surgeon with as much information as possible. Since the vast majority of patients seen by the spine surgeon will not require surgery, this option is needlessly expensive and the added radiation may be harmful to the patient.
5. The authors allow patients to take smart phone or tablet images of their own spinal x-rays. This engages the patient and their parents or guardians in the management. Take account of all regulatory and privacy issues regarding patient's recording of even their own images.
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Non-Muscle-Invasive Bladder Cancer: Review of Diagnosis and Management

Non-Muscle-Invasive Bladder Cancer: Review of Diagnosis and Management

Teaser: 

Neil Pugashetti,1 Shabbir M.H. Alibhai,3 Stanley A. Yap,1,2

1Department of Urology, University of California, Davis, Sacramento, CA.
2Division of Urology, Department of Surgery, VA Northern California Health Care System, Sacramento, CA, USA.
3Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

CLINICAL TOOLS

Abstract: Non-muscle-invasive bladder cancer (NMIBC) represents the large majority of newly diagnosed bladder tumors and represents a significant burden to both patients and the healthcare system. Although the initial standard treatment for all non-muscle-invasive tumors is surgical resection, there exist a wide variety of both surgical and medical treatment modalities based upon the tumor's specific stage and grade. Ensuring a proper diagnosis is key, and management should be tailored to the individual in order to reduce cancer recurrence and prevent progression of disease.
Key Words: Bladder cancer, non-muscle-invasive, diagnosis, treatment.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

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Non-muscle-invasive bladder cancer consists of papillary tumors (Ta), tumors invading the submucosal lamina propria (T1), and flat lesions known as carcinoma in situ (CIS).
Proper management is key given the significant risk of tumor recurrence or progression to muscle-invasive disease.
Many treatment modalities exist including transurethral resection, intravesical chemotherapy, intravesical immunotherapy, and radical cystectomy; treatment choice depends on a variety of factors including tumor stage and grade.
The gold standard for the complete work-up of hematuria is office cystoscopy and imaging of the upper urinary tract.
Initial standard treatment of non-muscle-invasive bladder tumors is TURBT; at the time of resection, sampling of muscle surrounding the lesion is important to accurately assess depth of invasion.
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A Practical Review of the Diagnosis and Management of Small Renal Masses

A Practical Review of the Diagnosis and Management of Small Renal Masses

Teaser: 

Stanley A. Yap,1 Shabbir M.H. Alibhai,2,3Antonio Finelli,1
1Division of Urologic Oncology, Princess Margaret Hospital, University of Toronto, Toronto, ON, Canada. 2Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada. 3Department of Medicine, University of Toronto, Toronto, ON, Canada.


Abstract
The incidence of small renal masses (SRMs) has risen steadily over time, and SRMs now represent the majority of newly diagnosed renal lesions. Approximately 80% of newly diagnosed SRMs will be malignant. However, identifying a benign versus malignant lesion non-invasively can be difficult since no distinct imaging characteristics or growth patterns exist between the two. We have witnessed concurrent improvements in treatment strategies for small, localized tumors and have gained a better understanding of their natural history. Along with these changes there has been a shift in the manner in which we diagnose and treat SRMs. Although surgery remains the standard of care, we can now offer a variety of therapies individualized to the patient.
Keywords: kidney cancer, small renal mass, diagnosis, treatment.