Neutral Lipid Storage Disease With Myopathy and Infiltrative Cardiomyopathy Initially Presenting as Right Arm Weakness.

Neutral lipid storage disease with myopathy is a rare genetic syndrome of abnormal intracellular lipolysis leading to lipid droplet accumulation in skeletal and cardiac muscle. Because of variability in clinical presentations, a multidisciplinary approach is essential for diagnosis and treatment.

Black Americans have worse stroke outcome compared with non-Hispanic whites.

Introduction: We studied racial differences in post-stroke outcomes using a prospective, population-based cohort of stroke survivors as part of the Brain Attack Surveillance in Corpus Christi (BASIC) project.

Methods: Neurologic (NIHSS, range of 0-42, higher scores are worse), functional (ADLs/IADLs, range 1-4, higher scores are worse), and cognitive (3MSE, range 0-100, higher scores are better) outcomes were measured 90 days after stroke. Cox proportional hazards and negative binomial linear regression models were used to examine the associations between race and 90-day all-cause mortality and NIHSS, respectively, whereas linear regression was used for ADLs/IADLs and 3MSE scores.

Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations.

Charcot-Marie-Tooth disease (CMTD) is an uncommon progressive neuromuscular disorder of the peripheral nervous system and primarily leads to distal extremity weakness and sensory deficits. Frequently, affected patients manifest pes cavus, drop foot, and digit contractures that may pose significant challenges in ambulation and grasping objects. Although there are numerous articles of this syndrome in the medical literature, there is a limited number of dental publications.

A Severe Course of Relapsing-Remitting Acute-Onset Chronic Inflammatory Demyelinating Polyneuropathy in a Young Man.

Acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is an immune mediated neuropathy characterized by progressive weakness and sensory impairment lasting over 2 months. Guillain-Barré-Strohl syndrome (GBS) is an immune mediated polyneuropathy with a similar presentation often over less than 4 weeks. While some have argued for the existence of recurrent GBS, most classify the syndrome as a form of relapsing-remitting CIDP.

Use of Noninvasive Ventilation with Volume-Assured Pressure Support in Neuralgic Amyotrophy with Bilateral Diaphragmatic Paralysis.

Neuralgic Amyotrophy (NA) is a rare, acute onset inflammatory brachial plexopathy that frequently presents with acute pain followed by shoulder girdle muscle weakness. Phrenic nerve involvement affecting the diaphragms occurs in 7-10% of cases. We present the case of a 52-year-old man with neuralgic amyotrophy with phrenic nerve involvement and bilateral diaphragmatic paralysis with marked respiratory symptoms and sleep hypoventilation, who was treated with non-invasive ventilation with volume assured pressure support mode.

Imaging calcinosis in patients with systemic sclerosis by radiography, computerised tomography and magnetic resonance imaging.

Introduction: Objective outcome measures are needed to facilitate clinical trials of much needed treatments for calcinosis in systemic sclerosis (SSc). Our primary aim was to compare radiography, computed tomography (CT) and magnetic resonance imaging (MRI) to measure calcinotic lesions. Secondary objectives included to examine reproducibility of radiography and MRI, and inter-rater reliability of MRI.

Inflammatory Pseudotumor of the Temporal Bone: A Case Series.

Objective: Inflammatory pseudotumor of the temporal bone is a benign, idiopathic inflammatory process that is locally invasive and a cause of significant morbidity. This study reviews our experience with seven patients and is currently the largest series to date.

Study Design: Retrospective review from January 1, 2014 to January 1, 2016.

A pilot study of acupuncture in treating bortezomib-induced peripheral neuropathy in patients with multiple myeloma.

Background: Peripheral neuropathy is the dose limiting toxicity of bortezomib in patients with multiple myeloma (MM).

Objectives: To examine the safety, feasibility and efficacy of acupuncture in reducing bortezomib-induced peripheral neuropathy (BIPN) symptoms.

Methods: Patients with MM experiencing persistent BIPN ≥grade 2 despite adequate medical intervention and discontinuation of bortezomib received 10 acupuncture treatments for 10 weeks (2×/week for 2 weeks, 1×/week for 4 weeks, and then biweekly for 4 weeks).

Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy.

X-linked spinobulbar muscular atrophy (Kennedy's disease) affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.

Prevalence of extraforaminal nerve root compression below lumbosacral transitional vertebrae.

Objective: Although pathology at the first mobile segment above a lumbosacral transitional vertebra (LSTV) is a known source of spinal symptoms, nerve root compression below an LSTV, has only sporadically been reported. Our objective was to assess the prevalence of nerve root entrapment below an LSTV, review the causes of entrapment, and correlate with presenting symptoms.

Materials And Methods: A retrospective review of MR and CT examinations of the lumbar spine was performed over a 5.

Long-term radiographic assessment of cemented polyethylene acetabular cups.

Unlabelled: In vitro studies demonstrating excessive wear in polyethylene cups sterilized using gamma irradiation and stored in air led to the abandonment of this sterilization technique. We evaluated the clinical wear performance of a metal femoral component on a polyethylene cup in a hip prosthesis from a selected subset of implants in a group of patients followed for at least 20 years and assessed the time dependency of variation in penetration rates. We measured penetration in 33 polyethylene cups in 25 patients who had a Charnley low-friction arthroplasty between 1982 and 1984.

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy.

To identify proteins expressed abnormally in facioscapulohumeral muscular dystrophy (FSHD), we extracted soluble proteins from deltoid muscle biopsies from unaffected control and FSHD patients and analyzed them using two-dimensional electrophoresis, mass spectrometry and immunoblotting. Muscles from patients with FSHD showed large increases over controls in a single soluble, 34 kDa protein (pI=5.08) identified by mass spectrometry and immunoblotting as mu-crystallin (CRYM).

Renal cell carcinoma presenting as a solitary cutaneous facial metastasis: case report and review of the literature.

Background: Renal cell carcinoma is well known for its frequency to metastasise, particularly to lungs, liver, bones and brain. Metastasis to the skin is much less common. Presentation as a result of the skin lesion is even more unusual, with only 14 previously reported cases in the English literature.

Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy.

Objective: We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered.

Methods: Unfixed biopsies of control and FSHD deltoid and biceps muscles, snap-frozen at resting length, were cryosectioned, indirectly immunolabeled with fluorescent antibodies to sarcolemmal and myofibrillar markers, and examined with confocal microscopy to localize the immunolabeled proteins. Glutaraldehyde-fixed samples were stained with heavy metals, embedded, thin-sectioned, and examined with electron microscopy to determine the relationship between the sarcolemma and the underlying myofibrils.

Association of small ankyrin 1 with the sarcoplasmic reticulum.

Small ankyrin 1, or sAnk1, is a small, alternatively spliced product of the erythroid ankyrin gene, ANK1, that is expressed in striated muscle and concentrated in the network sarcoplasmic reticulum (SR) surrounding the Z disks and M lines. We have characterized sAnk1 in muscle homogenates and SR vesicles, and have identified the region that targets it to the network SR. Selective extractions and partitioning into Triton X-114 show that sAnk1 behaves like the SR Ca-ATPase and so is an integral protein of the SR membrane.

The muscular dystrophies: from genes to therapies.

The genetic basis of many muscular disorders, including many of the more common muscular dystrophies, is now known. Clinically, the recent genetic advances have improved diagnostic capabilities, but they have not yet provided clues about treatment or management. Thanks to better management strategies and therapeutic interventions, however, many patients with a muscular dystrophy are more active and are living longer.

Ocular Myasthenia Gravis.

Myasthenia gravis (MG) is an autoimmune disorder characterized clinically by proximal weakness and bulbar symptoms and pathologically by damage to the post-synaptic membrane at the neuromuscular junction. Ocular myasthenia gravis (ocular MG) is a form of myasthenia gravis whereby the patients' weakness is limited to the muscles of the eyes and eyelids (levator palpebrae superioris). Although not life-threatening, the limitations posed by ocular myasthenia gravis can prove disabling and distressing to patients.

Costameres: repeating structures at the sarcolemma of skeletal muscle.

Costameres, structures at the plasma membrane of skeletal muscle, are present in a rectilinear array that parallels the organization of the underlying contractile apparatus. Costameres have three major functions: to keep the plasma membrane, or sarcolemma, aligned and in register with nearby contractile structures; to protect the sarcolemma against contraction-induced damage; and to transmit some of the forces of contraction laterally, to the extracellular matrix. These functions require that costameres link the contractile apparatus through the membrane to the extracellular matrix.