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Introduction Early detection of left ventricular systolic dysfunction (LVSD) is important for therapeutic strategies for Duchenne muscular dystrophy (DMD) patients. We analyzed myocardial strain using echocardiography for early detection of LVSD and determined the predictors of early LVSD. Methods This investigation was a cross-sectional study of 40 DMD patients with normal left ventricular ejection fraction. Global longitudinal strain (GLS) was used to analyze subtle disturbances in longitudinal contraction of the myocardium. Patients were determined to have early LVSD (GLS > -18) or normal left ventricular systolic function (GLS ≤ -18). Results Patients who had early LVSD were older and had a higher frequency of corticosteroid therapy and of mutations in exons 45, 46, 47, 48, 49, 50, and 52. Discussion Myocardial strain measurements are useful for the early diagnosis of LVSD in DMD patients. Older age, use of corticosteroids, and mutations within the "hot-spot" region of the DMD gene are associated with early LVSD. Muscle Nerve, 2018.

BACKGROUND AND PURPOSE Agitated saline solution (AS) is the contrast agent (CA) of choice for the diagnosis of right-to-left shunt (RLS). The aim of this study was to compare AS to AS with blood (ASb) in the diagnosis and quantification of RLS by contrast-enhanced transcranial Doppler (cTCD). METHODS Forty-two patients were evaluated for RLS in both of the middle cerebral arteries (MCA) by cTCD. Both AS and ASb were used as CAs while the patient breathed spontaneously and during two different moments of a Valsalva maneuver. Embolus track (ET) counts were obtained from each MCA (MCA analysis) and from each patient (patient analysis). RESULTS In the MCA analysis, at least one ET was identified in 109 (43.2%) of the AS tests and 136 (54%) of the ASb tests (P= .016). The ET counts were higher with ASb (78.0 ± 117.6) than with AS alone (46.9 ± 66.7; P= .01). In the patient analysis, at least one ET was identified in 62 (49.2%) of the AS tests and 77 (61.1%) of the ASb tests (P= .057). Similar ET counts were generated with both CA solutions. CONCLUSIONS These findings support the inclusion of ASb as an option for RLS diagnosis in selected patients.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.

Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (

Pure neural leprosy (PNL) is often difficult to diagnose when acid-fast bacilli (AFB) cannot be detected. We undertook the present study to evaluate use of the polymerase chain reaction (PCR) in diagnosing PNL. Fifty-eight patients (41 men and 17 women) suspected of pure neural leprosy (PNL) were examined. Patients were classified as borderline tuberculoid (BT, 40 cases) and polar tuberculoid (TT, 18 cases) types. Nerve biopsy was performed and was positive for AFB in 20 patients (all BT patients), i.e., 34.5% of total cases. DNA was extracted from the nerve biopsy samples and amplified using PCR for a specific repeated sequence of DNA from Mycobacterium leprae. PCR analysis was positive in the nerve samples from 29 patients (50%), 27 of the BT type, and 2 of the TT type patients. Further, PCR analysis was positive in 14 of 38 cases that were negative for AFB by nerve biopsy, of which 12 were of the BT type and 2 the TT type. PCR analysis proved to be a useful method to investigate pure neural leprosy, enabling confirmation of the diagnosis in more than a third of the cases that were negative for AFB by nerve biopsy.

A young female patient with chronic renal failure due to a systemic vasculitis and a parkinsonian syndrome secondary to brain vasculitis, most likely systemic lupus erythematosus, is described. The patient had a dramatic response to a pulse of methylprednisolone, with remission of her parkinsonian symptoms.

We report the case of a 37-year-old man with clinical and electrophysiological features of hereditary slow-channel syndrome (SCS) and antibodies against acetylcholine receptors (AChR-Abs). He presented with weakness of shoulder and hand muscles. A supramaximal single stimulus to the motor nerves disclosed a double compound muscle action potential (CMAP). Repetitive stimulation of ulnar, suprascapular, and median nerves showed a CMAP decrement greater than 10%. The patient responded to pyridostigmine. This report confirms the importance of AChR-Ab titers in suspected cases of hereditary SCS because patients with positive AChR-Abs may have a better response to available treatments.

Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17-year-old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence during the rippling phenomenon. Muscle protein immunohistochemical analysis showed a partial deficiency of caveolin-3. Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene. We associated this novel mutation with RMD.

We report a patient diagnosed with stiff-three limbs syndrome, without continuous motor unit activity in the electrophysiologic exam, with successful treatment with intravenous immunoglobulin.