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Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman.

We report the case of a 55-year-old woman who presented to the emergency department having woken from sleep with right sided thigh swelling. Pelvic radiographs revealed bilateral atypical subtrochanteric femoral fractures (ASFFs). In the two years leading up to this admission, the patient had experienced gradually increasing pain and weakness in her legs which had resulted in a decrease in her mobility from fully mobile to bed-bound. During this time a neurologist had organised a magnetic-resonance imaging (MRI) scan of the brain and spine which was normal. There was no history of bisphosphonate (BP) use. Historical and admission blood tests revealed a persistently low serum alkaline phosphatase (ALP), with all other results within normal limits. The patient was treated with intramedullary nailing of both femurs and histological analysis of bone reamings were characteristic of hypophosphatasia (HPP). The patient was independently mobilising with a walking frame on discharge. Subsequent genetic testing revealed bi-allelic pathogenic variants in the TNSALP gene: c.526G>A, p.(Ala176Thr) and c.1171C>T, p.(Arg391Cys). HPP is an inborn error in metabolism caused by mutation in the gene coding for tissue non-specific alkaline phosphatase (TNSALP), resulting in a decrease in serum ALP concentrations. The age at which it presents which can vary from childhood to middle age, with symptoms ranging from perinatal death to late-onset osteomalacia. In those patients who survive to ad...
Source: Clinical Cases in Mineral and Bone Metabolism - Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research

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Follow me on Twitter @RobShmerling Ever wonder what other people are wondering about? I know I do. So, here are the top 10 health searches in Google for 2017. And just so you don’t have to look each one up, I’ve provided a brief answer. You’re welcome. 1.  What causes hiccups? I was surprised this one made it to the top 10 list of health searches. Maybe this search is common because hiccups are as mysterious as they are universal. I’ve written about hiccups before, but let’s just say the cause in any individual person is rarely known or knowable. Then again, the reason hiccups stop is als...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Health Source Type: blogs
As we age we are inevitably bereaved more often, and it is at a time of our life when we are more vulnerable. Research shows that the generation that are in their 60’s and older are the least likely to access or receive appropriate support when someone dies, and this is particularly true of men. Through my work as a bereavement psychotherapist for the last 25 years, I have learned from my clients what can help them at such a difficult time, and I have developed the concept of “pillars of strength” — these are active things we can do to help us manage the pain of loss, and build an internal structure...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Books Family General Grief and Loss Personal Psychotherapy Relationships Self-Esteem Self-Help Source Type: blogs
ConclusionsThis is the first evidence of a relationship between an “acute-phase” systemic inflammatory response and recovery at 6 months. High inflammation (CRP/IL-6) was associated with good recovery, but specific elevation of TNF, along with depressive symptoms, was associated with bad recovery. Depression and TNF may have a two-way relationship.Graphical abstractThese slides can be retrieved under Electronic Supplementary Material.
Source: European Spine Journal - Category: Orthopaedics Source Type: research
I could write about a BPS (biopsychosocial) model in every single post, but it’s time for me to explore other things happening in the pain management world, so this is my last post in this series for a while. But it’s a doozy! And thanks to Eric Bowman for sharing an incredibly relevant paper just in time for this post… One of the problems in pain management is that there are so many assessments carried out by the professionals seeing a person – but very little discussed about pulling this information together to create an overall picture of the person we’re seeing. And it’s this aspect...
Source: HealthSkills Weblog - Category: Anesthesiology Authors: Tags: Assessment Back pain Clinical reasoning Low back pain Pain conditions Professional topics Research Science in practice biopsychosocial disability function Health healthcare pain management rehabilitation Therapeutic approache Source Type: blogs
When a doctor in your hospital system kills himself, the entire medical staff receives a mass email informing everyone of “Dr. So-and-So’s sudden unexpected death”. Thoughts and prayers for his family and loved ones. Perhaps a link to your Employee Assistance Program is provided, for those who may need counseling or grief assistance.  This is followed later that day with another email detailing the schedule for the final arrangements. Calling hours. Funeral. Directions to the church.Not everyone will have known the physician. So most scan the email and then go about thei...
Source: Buckeye Surgeon - Category: Surgery Authors: Source Type: blogs
This article originally appeared on Health.com
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized healthytime onetime Sex/Relationships Source Type: news
Spinal Cord Stimulators have been shown to be effective in treating neuropathic and sympathetically mediated chronic pain. After screening for comorbidities and contraindications, a 7 –10 day SCS trial is undertaken. A successful trial results in a greater than 50 percent reduction in pain with improved activity. There are several validated, subjective tools to determine the effectiveness of the trial, but we hypothesized that objective mobility and sleep data from a Fitbit cou ld better determine when a permanent spinal cord stimulator would be beneficial.
Source: The Journal of Pain - Category: Materials Science Authors: Source Type: research
The objectives of this study were to translate and cross-culturally adapt five PROMIS short-form measures assessing pain intensity, pain interference, sleep disturbance, depression and pain behavior into Nepali and evaluate their reliability and validity. The PROMIS measures were translated according to the FACIT Translation Methodology, an iterative process of forward, back-translation, expert review, harmonization across languages and cognitive interviewing. The Nepali version was then administered twice to 275 individuals (73% female; mean age 46  ± 16 years) with chronic pain over a mean interval o...
Source: The Journal of Pain - Category: Materials Science Authors: Source Type: research
We report a surgical case of idiopathic and chronic SSEH. A 61-year-old woman suffered a sudden onset of severe lumbar pain during sleep. She had no history of trauma, spinal surgery, or hypertension. Magnetic resonance imaging revealed a lumbar chronic epidural hematoma which compressed the dural sac behind and extended from L2 to L5. This patient underwent the partial evacuation of the hematoma with partial hemilaminectomy on left at L2/3, resulting in immediate pain relief and resolution of symptoms and almost absorption of the hematoma within 1 week of the procedure. We presented this rare case and reviewed idiopathic ...
Source: Neurologia Medico-Chirurgica - Category: Neurosurgery Tags: Neurol Med Chir (Tokyo) Source Type: research
Lower back pain can prevent a person from sleeping well, which, in itself, can make back pain worse. Learn about how to sleep to reduce back pain.
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Back Pain Source Type: news
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