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Clinical Management of Disorders of Sex Development

Teaser: 

Danielle Wang BA,1 Leanna W. Mah MD,2 Jennifer H. Yang MD,3

1,2University of California, Davis, Department of Urology, Sacramento, CA,
3Associate Professor, University of California, Davis, Department of Urology and Division of Pediatric Urology, Sacramento, CA.

CLINICAL TOOLS

Abstract: Disorders of sex development (DSD) is an umbrella term for congenital conditions in which anatomic, gonadal, or chromosomal sex is atypical. DSD is found in 7.5% of all births defects and 1 in 5,000 babies born worldwide have significant ambiguous genitalia. Best practices involve multidisciplinary teams, informed consent and shared decision-making with the patient and family. As a group, DSD patients are rare and therefore clinically challenging. Primary care providers, family medicine physicians, and pediatricians are the foundation for patients' medical care and therefore play a key role in the initial diagnosis, guidance, coordination of care, and long-term management.
Key Words:Disorders of sex development, intersex, gender identity, sex differentiation, ambiguous genitalia.

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The most common causes of DSD are congenital adrenal hyperplasia (CAH) and mixed gonadal dysgenesis, constituting approximately half of all DSD cases discovered in newborns.
Initial evaluation of DSD should include a thorough history, physical exam that includes assessment of genital anatomy, evaluation of sex chromosomes using karyotype and fluorescence in situ hybridization, and assessment of internal organs by abdominopelvic ultrasonography.
The three classifications within DSD are 46, XX DSD (disorders of gonadal or ovarian development and androgen excess), 46, XY DSD (disorders of gonadal or testicular development and impaired androgen synthesis or action), and chromosomal DSD (numeric sex chromosome anomalies).
Overlooked DSD diagnosis can have the fatal consequence of adrenal crisis due to CAH; phenotypic males with CAH do not present with ambiguous genitalia and therefore adrenal crisis may go undetected at birth.
Physical exam findings that should prompt a DSD workup in neonates include bilateral non-palpable testes, hypospadias in combination with a unilateral undescended testis or non-palpable testes, clitoral hypertrophy, foreshortened vulva with a single urogenital tract opening, and an inguinal hernia with a palpable gonad in a phenotypic female infant.
Initiating the connection to other patients or families and recommending support groups can alleviate isolation, normalize a DSD diagnosis, and encourage positive adaptation.
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A Spinal Control Approach to Back Pain for the Primary Care Provider

Teaser: 

Kristen H. Beange BASc,1 Tianna H. Beharriell BHK,2 Eugene K. Wai MD, MSc, FRCSC,3 Ryan B. Graham MSc, PhD,4

1School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.
2School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.
3Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. Department of Surgery, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
4School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.

CLINICAL TOOLS

Abstract: Impaired neuromuscular control of the spine is widely recognized as an important factor in the development of low back pain (LBP). In this review, we summarize contemporary approaches for the assessment of spinal control variables such as stability, stiffness, coordination, and kinematics as well as the most current definitions within the LBP community. We discuss how these assessments can be incorporated into primary clinical care to improve diagnosis and treatment effectiveness.
Key Words: spinal control, low back pain, kinematics, stability, wearables.

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. Classification of low back pain (LBP) should continue to be refined to prognosticate and guide treatment.
2. The spinal control model is based on the interaction of the passive (osteoligamentous), active (muscular), and neural feedback subsystems.
3. The spinal control model can be used as a basis to further refine classification and treatment of LBP. Technological advances allows for the development of better kinematic assessments of these subsystems and possible incorporation into clinical care.
1. Identification of specific subgroups of LBP and directing specific treatments has been identified as a future for research and management.
2. The Clinically Organized Relevant Exam (CORE) Back Tool incorporates the identification of patterns of pain based on back or leg dominant, and flexion or extension mediated pain.
3. Spinal fusion for treatment of back dominant LBP (without spondylolisthesis) is not supported by clinical practice guidelines.
4. Within the spinal control model, treatment of LBP should focus on the identification of deficiency in the active (muscular) and neural feedback subsystems and on treatment with spinal muscular strengthening and motor control exercises.
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The Need to Feed—A Powerful Force

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Abstract
Food is clearly one of the essentials of life. Most people in the more developed world consider food as much for its culinary delights and aesthetics than for its nourishment attributes. Eating and feeding is one of the first experiences among virtually all mammals and for humans the tie to feeding/nurturing process starts with the first suckle and ends with either last swallow—or when medical technology joins the complex end of life process—when the last drop of tube feed is administered. For many family members the differences between eating and drinking which is associated with the pleasure of the first maternal feed and a life-time of socially mediated eating, and artificial nutrition and hydration as only a matter of interpretation—for others there is no comparison. How this plays out in end of life situations varies for many reasons: physicians can help families make decisions about most feeding situations to help the family's interpretation of their loved one's preferences.
Key Words: End of life care, tube feeding, artificial nutrition and hydration.

The mothers of all living species appear to have a biologically determined need to feed their young. For those interested in the natural world, among its many wonders is the extent to which this applies and the care taken in feeding the young—often with careful maternal deliberation for fair distribution of food, and at times, the care taken with those in need of preferential feeding.

For humans it is a given, virtually from birth, that the desire to be fed as expressed by a newly born infant is matched by the desire to respond to that visceral connection by the mother—so much so that failure to respond usually is an indicator of some serious aberration or illness that interferes with what most would consider the "natural" order of such a relationship.

This same fixation on the importance of food in human relationships often plays out in the determination that spouses and children express when it comes to feeding a frail, failing elderly loved one—irrespective of whether the desire or ability to eat normally or at all has been undermined by a medical condition. In my own experience as a geriatric medical specialist with a special interest in late-stage dementia and, more recently, palliative care, such an inborn drive to feed one's loved one is sometimes taken to inordinate lengths.

Some scenarios appear to repeat themselves, even if the individual's circumstance appears to differ. A common example is a person with end-stage dementia where cognitive abilities are severely compromised. This condition is often associated with impairments in the desire to and/or ability to eat despite often very time-consuming and almost heroic efforts by family and professional caregivers.

Often the question of artificial tube feeding is raised, but depending on the situation, rejected by the family—often rightfully so—because discussions or advance directives (living wills) made by the person rejected such an intervention.

Many in the field would concur with such a decision, as the feeding would provide little if anything in the way of comfort, would not decrease the possibility of abnormal aspiration (inhalation) of food and would add virtually nothing to the quality of the last stages of life.

We have collectively learned that what is called "comfort feeding," by which even small, nutritionally modest amounts of favourite foods provided by a loved one may be the most humane way of demonstrating the devotion associated with feeding, fostering the sense that one's loved one is not being abandoned or even worse "starved to death."

In another common scenario, a patient in a hospice (palliative care unit) with progressive malignant disease often has no appetite and is losing weight as a consequence of the illness. Some families become obsessed with feeding their diminishing loved one, becoming desperate in their quest to find a way to increase eating, often bringing delicacies from home in the hope that something will tweak the appetite. In extreme situations, the family member is almost "force feeding" their loved one with the hope that the right food might improve or even reverse the inexorable course of the terminal stage of the illness.

Sometimes the only thing the dying patient may want is something as simple and flavourful as ice cream—I am a big believer in ice cream as suitable for end-of-life care. But you must choose the right preferred flavour, and not worry about whether it is nutritious or not. If it's enjoyed and savoured—and that is the measure by which to judge – it may be one's last act of kindness to a beloved family member who is in the process of dying.

This article was originally published online at http://www.cjnews.com.

Dementia: Hearing Loss May Contribute to Symptoms

Teaser: 

Michael Gordon, MD, MSc, FRCPC,

Medical Program Director, Palliative Care, Baycrest Geriatric Health Care System, Professor of Medicine, University of Toronto, Toronto, ON.

CLINICAL TOOLS

Abstract: Dementia and hearing loss are both prevalent in older people. Until relatively recently there was little appreciation of their possible interconnection in terms of cause, effect and relationship between the two conditions other than perhaps the dictum—”if you can’t hear it you can not remember it”. It has now become apparent that there is a more defined relationship in terms of possible causality or at least partial patho-physiological association which makes it more important to define hearing loss early on and address it as part of the strategy to decrease the risk of dementia.
Key Words: Alzheimer’s disease, hearing loss, symptoms
Do not discount hearing loss as part of assessment of the range of cognitive impairment and dementia.
Look for appropriate strategies to address hearing loss in elders with early cognitive impairment who may shun standard hearings aids—use the simpler Pocketalker (R) which may fulfil the important goal of enhancing hearing and communication.
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JCCC 2017 Issue 1

Table of Contents