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. Covariates included demographics, initial NIHSS, comorbidities, prior stroke history, tPA treatment status, pre-stroke disability, and pre-stroke cognition. The mortality model was also adjusted for DNR status. RESULTS: At 90 days post-stroke, Black American individuals (BAs) (n = 122) had a median (IQR) NIHSS of 2 (1,6) compared to NIHSS of 1 (0,3) in non-Hispanic White American individuals (NHWs) (n = 795). BAs had a median (IQR) ADL/IADL score of 2.41 (1.50, 3.39) compared to 2.00 (1.27, 2.95) in NHWs. BAs scored a median of 84 (75, 92) on the 3MSE compared to NHWs' score of 91.5 (83, 96). Death occurred in 23 (8%) of BAs and 268 (15%) of NHWs within 90 days among those who participated in baseline. After adjustment for covariates, functional outcomes at 90 days were worse in BAs compared to NHWs, with 15.8% (95% CI=5.2, 26.4) greater limitations in ADLs/IADLs and 43.9% (95% CI=12.0, 84.9) greater severity of stroke symptoms. Cognition at 90 days was 6.5% (95% CI=2.4, 10.6) lower in BAs compared to NHWs. BAs had a 35.4% lower (95% CI=-9.8, 61.9) hazard rate of mortality than NHWs. CONCLUSIONS: In this prospective, population-based community sample, BAs had worse neurologic, functional and cognitive outcomes at 90 days compared to NHWs. Future research should investigate how social determinants of health including structural racism, neighborhood factors and access to preventive and recovery services influences these racial disparities.

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. The objective of this article is to review the general and head and neck/oral and maxillofacial features of CMTD. General guidelines for dental management are also provided.

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. However, there are cases of GBS with treatment-related fluctuations that must be distinguished from A-CIDP as patients with A-CIDP require long-term immunotherapy. In this case report, we discuss a patient with multiple relapses over 3 years, who is more likely to have A-CIDP. His ganglioside profile, which has rarely been reported in A-CIDP, included high concentrations of anti-GM1, anti-GD1a, and anti-GD1b antibodies, which may account for his severe disease course.

Racial and Ethnic Equity in Neuromuscular Care-Time for Our Action to Live Up to Potential.

This Viewpoint discusses the need to improve the quality of care in neuromuscular disease for all individuals, no matter their race and ethnicity.

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. SETTING: Single tertiary medical center. PATIENTS: There were five male and two female (n = 7) subjects with a diagnosis of temporal bone inflammatory pseudotumor. The mean age at presentation was 41 years old. The most common presenting symptoms were hearing loss (7/7) and headache (4/7). Four patients demonstrated an inflammatory aural polyp. Two patients experienced facial nerve paralysis. INTERVENTION(S): Seven patients underwent computed tomography and six underwent magnetic resonance imaging. Corticosteroids and antibiotics were the initial treatment of choice. Five patients also underwent surgery. As adjuvant therapy, two patients received Rituximab, one patient received radiation, and one received mycophenolate mofetil. MAIN OUTCOME MEASURE(S): Clinical courses were followed with focus on symptoms, disease recurrence, duration, and treatment. Mean follow-up was 17.8 months. RESULTS: The primary lesions demonstrated T2 hypo-intensity and enhancement as well as diffuse dural thickening on magnetic resonance imaging in five of six patients. Histopathology demonstrated chronic inflammation in the setting of hyalinized fibrosis (7/7). All the patients are currently symptomatically stable. CONCLUSION: Inflammatory pseudotumor of the temporal bone can cause devastating effects on neurological function and quality of life. Recognition of characteristic imaging and histopathology can expedite appropriate treatment. Patients may require chronic steroid therapy. Adjunctive therapy with radiation and immuno-modulation are currently being explored.

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. Physical therapists, therefore, are more likely to see a patient with a muscular dystrophy, so understanding these muscle disorders and their management is essential. Physical therapy offers the most promise in caring for the majority of patients with these conditions, because it is unlikely that advances in gene therapy will significantly alter their clinical treatment in the near future. This perspective covers some of the basic molecular biological advances together with the clinical manifestations of the muscular dystrophies and the latest approaches to their management.

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.

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). Soluble fractions of biopsies of several other myopathies and muscular dystrophies showed no appreciable increases in mu-crystallin. Mu-crystallin has thyroid hormone and NADPH binding activity and so may influence differentiation and oxidative stress responses, reported to be altered in FSHD. It is also linked to retinal and inner ear defects, common in FSHD, suggesting that its up-regulation may play a specific and important role in pathogenesis of FSHD.

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. RESULTS: Confocal microscopy showed that some of the structures at the sarcolemma in FSHD samples were misaligned with respect to the underlying contractile apparatus. Electron microscopy showed a significant increase in the distance between the sarcolemma and the nearest myofibrils, from less than 100 nm in controls to values as high as 550 nm in FSHD. INTERPRETATION: Our results show that the pathophysiology of FSHD includes novel changes in the organization of the sarcolemma and its association with nearby contractile structures and suggest that, as in other muscular dystrophies, the integrity of the sarcolemma may be compromised in FSHD.

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. Acetylcholinesterase inhibitors such as pyridostigmine or neostigmine are the preferred first-line treatment for ocular myasthenia gravis, with mild cases requiring no additional intervention. However, in moderate or severe cases, treatment must be tailored to the needs and desires of the patient. Intravenous immunoglobulin, although costly, is safe and effective at treating MG. Corticosteroids are effective at reducing or eliminating symptoms and may modify the long-term course of the illness. Steroid-sparing agents such as azathioprine and mycophenolate mofetil are reasonably safe and well-tolerated alternatives to steroids. Surgical interventions such as strabismus surgery and eyelid suspension serve to correct impairments refractory to medical management. Thymectomy, although less frequently recommended, is a reasonable consideration, especially for young adults, given the potential for long-term benefit.

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. Mild proteolytic treatment of isolated SR vesicles indicates that sAnk1 is oriented with its hydrophilic, C-terminal sequence exposed to the solution, which is equivalent to the cytoplasmic face of the SR membrane in situ. SDS-PAGE in non-reducing gels suggests that sAnk1 is present as dimers and larger oligomers in the native SR. These results suggest that sAnk1 is oligomeric and oriented with its C-terminus exposed to the cytoplasm, where it may interact with proteins of the contractile apparatus. The N-terminal 29 amino acid hydrophobic sequence of sAnk1, which is predicted to span the SR membrane, is sufficient to target proteins to and anchor them in internal membranes of HEK 293 cells. It also targets reporter proteins to the network SR of skeletal myofibers and is thus the first example of a sequence that targets proteins to a particular compartment of the SR.

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. Mutations to key components of costameres cause these structures to lose their rectilinear organization and can result in muscle weakness or death. This article summarizes the evidence that costameres are composed of large complexes of integral and peripheral membrane proteins that are linked to the contractile apparatus by intermediate filaments and to the extracellular matrix by laminin. They also present evidence that costameres are altered when key costameric components are missing, as in a murine form of muscular dystrophy.