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Bi‐allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child‐ or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1‐patients were investigated by proteomics. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further validated by muscle‐immunostainings unravelling HNRNPDL as a protein showing differences between VWA1‐patients, healthy controls and patients suffering from neurogenic muscular atrophy and BICD2‐related neuromyopathy. Immunostaining studies of PHGDH indicate its involvement in apoptotic processes via co‐localisation with caspase‐3. NEFM showed an increase in cells within the ECM in biopsies of all patients studied. Plasma proteomics unravelled dysregulation of 15 proteins serving as biomarker candidates among which a profound proportion of increased ones (6/11) are mostly related to antioxidative processes and have even partially been described as blood biomarkers for other entities of neuromuscular disorders before. CRP elevated in plasma also showed an increase in the extracellular space of VWA1‐mutant muscle. Results of our combined studies for the first time describe pathophysiologically relevant biomarkers for VWA1‐related neuromyopathy and suggest that VWA1‐patient derived blood might hold the potential to study disease processes of clinical relevance, an important aspect for further preclinical studies. [ABSTRACT FROM AUTHOR]

Copyright of Practical Pharmacy & Clinical Remedies is the property of Editorial Department of Practical Pharmacy & Clinical Remedies and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on 99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on 99mTc-DPD planar scintigraphy were documented, attributable to ATTR amyloid myopathy. Interstitial amyloid deposits were confirmed by muscle biopsy in both patients, with a particularly high amyloid burden in the adipose tissue. This case report highlights the frequent concomitant presence of cardiac ATTR amyloidosis and ATTR amyloid myopathy. ATTR amyloid myopathy may precede cardiac manifestation in ATTRwt or occur after heart transplantation in ATTRv. Due to the high diagnostic accuracy of 99mTc-DPD scintigraphy for detecting ATTR amyloid myopathy and the emergence of novel therapeutics, it is important to increase the awareness of its presence. [ABSTRACT FROM AUTHOR]

Background: Trigeminal neuralgia (TGN) is considered a sensory neuropathy. However, reports of pain on chewing/speaking suggest a masticatory myofascial involvement. Objective: To examine the effect of ultrasound-guided dry needling (USGDN), which deactivates myofascial trigger points in masticatory, neck, and facial muscles on TGN symptoms. Methods: Charts of 35 patients treated for TGN were retrospectively reviewed. Treatment was USGDN alone or combined with trigeminal ganglion/mandibular nerve pulsed radiofrequency (PRF), followed by yoga mudras to stretch masticatory and facial muscles. Patients were followed for 1–8 years. Outcome parameters were reduction of medications with reduction in neuralgic attack frequency and Numeric Rating Scale (NRS) score. Results: 23 patients (65.7%) received USGDN alone, 12 patients (34.3%) received PRF treatment before USGDN. A significant reduction in the mean (SD) NRS (5.7 [1.2] vs 8.8 [1.6]; P <.001) and neuralgic attack frequency (47 [27] vs 118 [70] attacks/day; P <.001) was seen after PRF compared with baseline, respectively. Following USGDN, the mean (SD) NRS further decreased significantly to 1.0 (0.9) (P <.001). USGDN alone produced a similar improvement in the NRS (8.9 [1.5] at baseline reduced to 0.6 [0.7] post-USGDN; P <.001). Patients in both groups reported a cessation in neuralgic attacks after USGDN. Post-USGDN, 18/27 patients completely discontinued medication, with the mean (SD) carbamazepine dose significantly reducing from 716.7 (260.9) mg/day at baseline to 113.0 (250.2) mg/day post-USGDN (P <.001). Conclusion: Decisive relief of TGN by USGDN suggests neuromyalgia involving masticatory muscles. Prospective, controlled studies could confirm these findings. [ABSTRACT FROM AUTHOR]

Nivolumab is an immune checkpoint inhibitor (ICI) that treats various malignancies. Although ICIs have proven efficacious, they can also have detrimental side effects. We present a case of nivolumab-induced quadriparesis mimicking Guillain-Barré syndrome in a patient with stage III squamous cell carcinoma (SCC) of the pharynx with a chronic tracheostomy, who presented after being found unconscious at home. He later developed acute kidney failure, requiring dialysis, and bilateral weakness of his upper and lower extremities. The patient was treated with corticosteroids and intravenous immunoglobulin (IVIG) with minimal improvement. Nivolumab-induced quadriparesis is very threatening and can be fatal if inappropriately managed. Therefore, we strongly advocate for a multidisciplinary team and early corticosteroid prescription to monitor patients on nivolumab therapy to prevent adverse clinical outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Sharon et al.)

The article presents a clinical case of a 23-year-old patient with an extremely severe congenital form of chronic intestinal pseudoobstruction coupled with a neuromyopathy,colon malrotation, malabsorption, bacterial overgrowth syndrome, cholelithiasis and gastrostasis, which excluded bowel transplantation. Long-term treatment in the intensive care unit with combined, mainly parenteral nutrition for 6 months, using antibiotics, prokinetics, intestinal decompression allowed to achieve partial stabilization of the patients condition and transfer to home treatment with the continuation of adequate complex therapy.

Chronic intestinal pseudo-obstruction a rare violation of the motor skills of the gastrointestinal complex, similar to mechanical obstruction, but without a mechanical obstacle. The development of chronic intestinal pseudo-obstruction is caused by a disturbance on the part of the smooth muscles and the nervous system of the gastrointestinal system. Common symptoms include constipation, abdominal pain, nausea, vomiting, bloating. Violation of peristalsis leads to food stagnation in the hinges of the small intestine, their dilation, the development of bacterial insemination syndrome. Eating disorders, bacterial contamination syndrome (CDDs) lead to impaired suction syndrome, cahexia. Treatment is aimed at providing adequate nutrition, the use of drugs that activate motor skills, suppress the growth of microbes in the small intestine, the implementation of intestinal decompression. Surgical treatment: resection of the affected segment of the gut. In the refractory course of the disease intestinal transplantation.

The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with collagen VI and perlecan, two proteins that are affected in hereditary neuromuscular disorders. Lack of VWA1 is known to compromise peripheral nerves in a Vwa1 knock-out mouse model. Exome sequencing led us to identify bi-allelic loss of function variants in VWA1 as the molecular cause underlying a so far genetically undefined neuromuscular disorder. We detected six different truncating variants in 15 affected individuals from six families of German, Arabic, and Roma descent. Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed. Our findings establish VWA1 as a new disease gene confidently implicated in this autosomal recessive neuromyopathic condition presenting with child-/adult-onset muscle weakness as a key clinical feature. [ABSTRACT FROM AUTHOR]

Introduction: Although peripheral neuropathy and cardiomyopathy are well-recognized manifestations of transthyretin (ATTR) amyloidosis, myopathy has been rarely reported.Methods: In this study we reviewed our muscle biopsy database (January 1998 to June 2018) to identify patients with ATTR amyloid myopathy confirmed by molecular or proteomic analysis. Clinical and laboratory findings were reviewed.Results: We identified eight ATTR amyloid myopathy patients (5 hereditary ATTR [ATTRv] and 3 wild-type ATTR [ATTRwt]). Myopathy was the initial manifestation in all ATTRwt patients and followed peripheral neuropathy (4 patients) or cardiomyopathy (1 patient) in ATTRv patients. One ATTRv patient developed myopathy after liver transplant. Peripheral neuropathy and cardiac amyloidosis occurred in seven and six patients, respectively. Muscle biopsy showed interstitial amyloid deposition in all patients, rare necrotic/regenerating fibers in six, and vacuoles in four.Discussion: Myopathy can be the initial manifestation of ATTRwt amyloidosis and can precede the peripheral neuropathy or occur after liver transplant in ATTRv amyloidosis. [ABSTRACT FROM AUTHOR]

Neuromyopathy is a rare side effect of chronic colchicine therapy, especially without renal impairment. Drugs interacting with colchicine metabolism through CYP3A4 can accelerate accumulation and toxicity. We describe a case of an interaction between atorvastatin, clarithromycin and colchicine resulting in acute neuromyopathy.

HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes.

A 19-year-old female, normal at birth, grew up without neck movement when getting up. She needed a handrail to climb stairs since the age of 10 years old, and walked slowly since the age of 16 years old. Neurological examination revealed loss of deep tendon reflexes, decreased vibratory sensation, weakness of distal muscles of the lower extremities, and weakness of mainly cervical trunk muscles suspected to be due to myopathy. Nerve conduction studies suggested axonal polyneuropathy, and needle EMG showed short duration MUP, myotonic discharge, and rimmed vacuoles on muscle biopsy. Genetic analysis revealed a previously reported pathological mutation (p.P209L, heterozygous) in Bcl2-Associated Athanogene 3 (BAG3), and a diagnosis of MFM6 was made. P209L is a poor prognosis myopathy that develops in childhood and is associated with cardiomyopathy. P209L is a solitary myopathy associated with axonal neuropathy and characterized by apex foot contracture and weak neck to trunk flexion. This disease is suspected in young-onset neuromyopathy.

Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early-childhood to late-adulthood while the predominant muscle weakness can affect calf, ankle dorsiflexor, or distal upper limb muscles. A spectrum of muscle pathological changes, varying from nonspecific myopathic changes to rimmed vacuoles to myofibrillar pathology to nuclei centralization, have been noted. Likewise, the underlying molecular defect is heterogeneous. In addition, there is emerging evidence that distal myopathies can result from defective proteins encoded by genes causative of neurogenic disorders, be manifestation of multisystem proteinopathies or the result of the altered interplay between different genes. In this review, we provide an overview on the clinical, electrophysiological, pathological, and molecular aspects of distal myopathies, focusing on the most recent developments in the field. Muscle Nerve 59:283-294, 2019. [ABSTRACT FROM AUTHOR]

Context: Existing interventions for postmastectomy pain syndrome (PMPS) address the neural component while overlooking a possible myofascial component. Aim: The aim of the study is to investigate the myofascial contribution to PMPS, by examining the effectiveness of myofascial trigger point release by ultrasound-guided dry needling (USGDN). Patients and Methods: This retrospective review assessed the efficacy of USGDN in addressing myofascial pain in twenty consecutive patients with treatment-refractory PMPS. Patients in Group 1 (n = 16) received USGDN after neural interventions (NIs) such as neuraxial blocks, intrathecal pump implant, or pulsed radiofrequency, while those in Group 2 (n = 4) received USGDN alone. Outcome measures were changes in Numerical Rating Scale (NRS), PainDETECT (PD), Disabilities of Arm, Shoulder, and Hand (DASH), Patient Health Questionnaire-9 (PHQ-9) scores, and opioid use. Results: In Group 1, the mean (standard deviation) NRS and PD scores (9.6 [0.9] and 28.3 [4.3], respectively, at baseline) reduced to 5.2 (1.1) and 16.1 (3.7) at 1-week post-NI. The post-NI DASH reduction was below the cutoff for clinical relevance (80.9 [10.5] at baseline vs. 71.1 [10.5] post-NI). The opioid dose remained unchanged. Following USGDN, NRS, PD, and DASH scores further reduced to 2.3 (0.8), 6.6 (1.2), and 34.6 (14.4), respectively. Patients receiving USGDN alone also showed reduction in NRS, PD, and DASH (7.8 [1.7], 20.0 [8.0], and 61.0 [14.4] at baseline vs. 1.3 [0.5], 6.0 [1.6], and 22.5 [10.4] post-USGDN, respectively). In all patients, opioid use and PHQ-9 scores reduced only post-USGDN. Conclusions: USGDN reduced pain, disability, and opioid use, whereas NI reduced only pain. This suggests a myofascial contribution to pain and disability in PMPS. [ABSTRACT FROM AUTHOR]

Rationale: Near-fatal asthma (NFA) has not been well studied in Saudi Arabia. We evaluated NFA risk factors in asthmatics admitted to a tertiary-care hospital and described NFA management and outcomes. Materials and Methods: This was a retrospective study of NFA patients admitted to an ICU in Riyadh (2006-2010). NFA was defined as a severe asthma attack requiring intubation. To evaluate NFA risk factors, randomly selected patients admitted to the ward for asthma exacerbation were used as controls. Collected data included demographics, information on prior asthma control and various NFA treatments and outcomes. Results: Thirty NFA cases were admitted to the ICU in the five-year period. Compared to controls (N = 120), NFA patients were younger (37.5 ± 19.9 vs. 50.3 ± 23.1 years, P = 0.004) and predominantly males (70.0% vs. 41.7%, P = 0.005) and used less inhaled steroids/long-acting ß2-agonists combination (13.6% vs. 38.7% P = 0.024. Most (73.3%) NFA cases presented in the cool months (October-March). On multivariate analysis, age (odds ratio [OR] 0.96; 95% confidence interval [CI], 0.92-0.99, P = 0.015) and the number of ED visits in the preceding year (OR, 1.25; 95% CI, 1.00-1.55) were associated with NFA. Rescue NFA management included ketamine (50%) and theophylline (19%) infusions. NFA outcomes included: neuromyopathy (23%), mechanical ventilation duration = 6.4 ± 4.7 days, tracheostomy (13%) and mortality (0%). Neuromuscular blockade duration was associated with neuromyopathy (OR, 3.16 per one day increment; 95% CI, 1.27-7.83). Conclusions: In our study, NFA risk factors were younger age and higher number of ED visits. NFA had significant morbidity. Reducing neuromuscular blockade duration during ventilator management may decrease neuromyopathy risk.

We present a new perspective of neuromyopathy in pancreatic cancer pain (PCP) referral to bodywall; proposal of new rationale to include ultrasound guided dry needling (USGDN) of body wall muscles as an effective adjunct to neurolytic coeliac plexus block (NCPB) or splanchnic nerve radiofrequency ablation (SRF) for comprehensive interventional management. Methods: PCP response to SRF in 2 patients and NCPB in 3 patients was documented on numerical rating scale (NRS) on post procedure days 3 and 15. If the residual pain was >5 NRS on day 15, USGDN of abdominal and back muscles was started on a thrice weekly basis. The response to USGDN documented on day 30 after approximately 6 sessions of DN, showed a significant pain reduction (0-2 NRS) with 50% reduction of pre-treatment opioid consumption. This was sustained at 6 months or till their demise. Convergence of visceral and somatic nerves at the dorsal horn (viscerosomatic neurons) causes referral of visceral pain to the back and abdominal muscles. This leads to formation of myofascial trigger points (MTrPs) in the muscles which sets up a parallel network of sensitized peripheral and central motor nociceptive processing (neuromyopathy). USGDN specifically addressed the MTrPs that develop as an epiphenomenon of self-perpetuating neuromyopathy while SRF/NCPB, analgesics and neuromodulators could address only visceral nociceptive afferents (pain mediated through celiac plexus) which forms a meagre 10% of the total spinal cord afferent input. Thus, we conclude that combination of neuromyopathy and viscerosomatic convergence in PCP indicate a specific role for DN as an adjunct to SRF/NCPB in our patients [ABSTRACT FROM AUTHOR]

We report reversal of chronic postsurgical pain (CPSP) along with functional restoration after total knee replacement (TKR) in two patients, using a combination therapy that included ultrasonographyguided pulsed radiofrequency (PRF) of nerves supplying the knee to provide pain relief, along with dry needling (DN) to relax myofascial triggers/bands that caused painful stiffness and restricted movement of muscles acting across the knee. Both patients showed demonstrable pain relief, as evidenced by changes in pain as assessed on the Numeric Rating Scale (patient 1: 4-9/10 [pretreatment] to 0-3/10 [6 months post-treatment]; patient 2: 5-9/10 to 0-4/10), Oxford Knee Score (patient 1: 17 to 40; patient 2: 12 to 39), Self- Administered Leeds Assessment of Neuropathic Symptoms and Signs score (patient 1: 16 to 0; patient 2: 18 to 0), and Patient Health Questionnaire-9 score (patient 1: 17 to 2; patient 2: 20 to 2). The selection of the PRF-and-DN combination for treating post-TKR CPSP was based on a new idea that CPSP is a neuromyopathic phenomenon involving both sensory and motor neuropathy. It has evolved from our experience of 8 years. Physiotherapy worked synergistically with DN, optimizing muscle performance and pain relief. [ABSTRACT FROM AUTHOR]

RATIONALE: Near-fatal asthma (NFA) has not been well studied in Saudi Arabia. We evaluated NFA risk factors in asthmatics admitted to a tertiary-care hospital and described NFA management and outcomes. MATERIALS AND METHODS: This was a retrospective study of NFA patients admitted to an ICU in Riyadh (2006-2010). NFA was defined as a severe asthma attack requiring intubation. To evaluate NFA risk factors, randomly selected patients admitted to the ward for asthma exacerbation were used as controls. Collected data included demographics, information on prior asthma control and various NFA treatments and outcomes. RESULTS: Thirty NFA cases were admitted to the ICU in the five-year period. Compared to controls (N = 120), NFA patients were younger (37.5 ± 19.9 vs. 50.3 ± 23.1 years, P = 0.004) and predominantly males (70.0% vs. 41.7%, P = 0.005) and used less inhaled steroids/long-acting ß2-agonists combination (13.6% vs. 38.7% P = 0.024. Most (73.3%) NFA cases presented in the cool months (October-March). On multivariate analysis, age (odds ratio [OR] 0.96; 95% confidence interval [CI], 0.92-0.99, P = 0.015) and the number of ED visits in the preceding year (OR, 1.25; 95% CI, 1.00-1.55) were associated with NFA. Rescue NFA management included ketamine (50%) and theophylline (19%) infusions. NFA outcomes included: neuromyopathy (23%), mechanical ventilation duration = 6.4 ± 4.7 days, tracheostomy (13%) and mortality (0%). Neuromuscular blockade duration was associated with neuromyopathy (OR, 3.16 per one day increment; 95% CI, 1.27-7.83). CONCLUSIONS: In our study, NFA risk factors were younger age and higher number of ED visits. NFA had significant morbidity. Reducing neuromuscular blockade duration during ventilator management may decrease neuromyopathy risk. [ABSTRACT FROM AUTHOR]

Résumé: La neuromyopathie acquise en réanimation (NMAR) est la pathologie neurologique acquise la plus fréquemment observée en réanimation. Elle associe une atteinte nerveuse, musculaire et de la jonction neuromusculaire. Sa physiopathologie est complexe. Sa finalité est probablement de redistribuer les nutriments et le métabolisme vers la défense anti-infectieuse. Ses principaux facteurs de risque sont le sepsis, sa sévérité et sa durée d’évolution. Le diagnostic est habituellement posé devant des difficultés de sevrage de la ventilation mécanique, mais les examens électrophysiologiques pourraient permettre de l’établir plus tôt. S’il n’existe pas de traitement curatif, une maîtrise rapide du sepsis, le contrôle de la glycémie ainsi qu’une kinésithérapie précoce pourraient diminuer son incidence. L’impact pronostique de la NMAR est double : précoce avec une augmentation de la morbi-mortalité, et tardif avec la possible persistance de séquelles neuromusculaires invalidantes, allant jusqu’à une tétraplégie flasque. [ABSTRACT FROM AUTHOR]

Background: Patients can become weak in ICU from various etiologies and mechanisms. Establishing the diagnosis is invaluable for prognostic determination and specific management. We evaluated the relative contributions of clinical, laboratory, electomyographic studies (EMG), and percutaneous muscle biopsy (MB) in determining the cause of muscular weakness that developed in a series of patients while in ICU. The principal objective is to determine the concordance between results of the EMG and MB studies in patients with ICU-acquired weakness. Methods: We retrospectively reviewed hospital charts for clinical features, and results of laboratory investigations, EMG studies, and MB results in 11 consecutive patients who underwent both EMG and MB while in ICU. We excluded patients with previously diagnosed muscular weakness or neurological conditions prior to ICU admission. Results: Electomyographic studies suggested axonal neuropathy in three cases; MB confirmed this in one case, but showed myopathic features in two. EMG showed myopathic features in two cases; MB confirmed this in both cases. EMG suggested neuromyopathy in four cases, confirmed by MB in one case only. One patient, subsequently diagnosed with myasthenia gravis with decrement on repetitive nerve stimulation and positive anti-acetylcholine receptor antibodies, had non-specific findings on MB. Conclusions: EMG and MB are complementary investigations. They agreed completely in four cases but in the rest of the cases there was uncertainty as to the primary process based on the results of electrophysiological studies. In only one case was there a clear discordance between electrophysiological studies and muscle biopsy. We suggest that muscle biopsy should be performed more frequently as it establishes the diagnosis and thus the prognosis with more certainty than EMG in some patients. EMG is much more difficult in the ICU and more susceptible to confounding technical factors, but remains indispensable for the diagnosis of neuromuscular transmission defects. [ABSTRACT FROM AUTHOR]

Human and experimental Chagas' disease causes peripheral nervous system damage involving neuromuscular transmission alterations at the neuromuscular junction. Additionally, autoantibodies directed to peripheral nerves and sarcolemmal proteins of skeletal muscle have been described. In this Work, we analyse the ability of serum immunoglobulin factors associated with human chagasic infection to bind the affinity-purified nicotinic acetylcholine receptor (nAChR) from electric organs of Discopyge tschudii and to identify the receptor subunits involved in the interaction. The frequency of serum antin-AChR reactivity assayed by dot-blot was higher in seropositive chagasic patients than in uninfected subjects. Purified IgG obtained from chagasic patients immunoprecipitated a significantly higher fraction of the solubilized nAChR than normal IgG. Furthermore, immunoblotting assays indicated that α and β are the main subunits involved in the interaction. Chagasic IgG was able to inhibit the binding of α-bungarotoxin to the receptor in a concentration-dependent manner, confirming the contribution of the α-subunit in the autoantibody-receptor interaction. The presence of anti-nAChR antibodies was detected in 73% of chagasic patients with impairment of neuromuscular transmission in conventional electromyographical studies, indicating a strong association between seropositive reactivity against nAChR and electromyographical abnormalities in chagasic patients. The chronic binding of these autoantibodies to the nAChR could induce a decrease in the population of functional nAChRsat the neuromuscular junction and consequently contribute to the electrophysiological neuromuscular alterations described in the course of chronic Chagas' disease. [ABSTRACT FROM AUTHOR]

We observed an infant with congenital cardiomyopathy, muscular weakness and hypotonia, who developed hepatosplenomegaly and died from heart failure at the age of 8 months. His condition (including electromyographic findings) resembled infantile Pompe disease but was different by echocardiography, morphology of lymphocyte inclusions, and enzymatic studies demonstrating an almost total deficiency of β-galactosidase activity towards methylumbelliferyl substrate in leucocytes, plasma and fibroblasts. His parents had about half the normal activities in leucocytes and plasma. Whilst β-galactosidase deficiency in an infantile storage disorder is characteristic of generalized (type 1) GM-gangliosidosis, this patient differed by the striking involvement of the cardiac and skeletal muscles and the lack of facial and osseous changes. This case and a similar one reported underlines the necessity to consider storage disorders apart from glycogenosis in congenital cardiomyopathy. [ABSTRACT FROM AUTHOR]

Copyright of Zeitschrift Für Neurologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article presents a clinical case of a 23-year-old patient with an extremely severe congenital form of chronic intestinal pseudoobstruction coupled with a neuromyopathy,colon malrotation, malabsorption, bacterial overgrowth syndrome, cholelithiasis and gastrostasis, which excluded bowel transplantation. Long-term treatment in the intensive care unit with combined, mainly parenteral nutrition for 6 months, using antibiotics, prokinetics, intestinal decompression allowed to achieve partial stabilization of the patients condition and transfer to home treatment with the continuation of adequate complex therapy.

Colchicine and statins are well known drugs that cause myopathy and neuropathy. Co-administration of certain drugs with statins may increase myotoxic effect, causing myopathy and varying degrees of rhabdomyolysis. Therefore, it is very crucial to know which statin should be used during a combination therapy including colchicine and other drugs. We present three cases with AA amyloidosis secondary to familial Mediterranean fever, who developed neuromyopathy while receiving the combination of colchicine and statin. We also briefly discussed the different metabolic pathways of statins and colchicine when used together. [ABSTRACT FROM AUTHOR]

Chronic intestinal pseudo-obstruction a rare violation of the motor skills of the gastrointestinal complex, similar to mechanical obstruction, but without a mechanical obstacle. The development of chronic intestinal pseudo-obstruction is caused by a disturbance on the part of the smooth muscles and the nervous system of the gastrointestinal system. Common symptoms include constipation, abdominal pain, nausea, vomiting, bloating. Violation of peristalsis leads to food stagnation in the hinges of the small intestine, their dilation, the development of bacterial insemination syndrome. Eating disorders, bacterial contamination syndrome (CDDs) lead to impaired suction syndrome, cahexia. Treatment is aimed at providing adequate nutrition, the use of drugs that activate motor skills, suppress the growth of microbes in the small intestine, the implementation of intestinal decompression. Surgical treatment: resection of the affected segment of the gut. In the refractory course of the disease intestinal transplantation.

Neuromyopathy is a rare side effect of chronic colchicine therapy, especially without renal impairment. Drugs interacting with colchicine metabolism through CYP3A4 can accelerate accumulation and toxicity. We describe a case of an interaction between atorvastatin, clarithromycin and colchicine resulting in acute neuromyopathy., Learning Points: Colchicine has a narrow therapeutic window, and therefore, often produces side effects.Special caution should be adopted if patients with renal disease and concomitant medications are given colchicine.Before prescribing colchicine, the clinical history, including previous medications and conditions, should be carefully considered., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests.

Context: Existing interventions for postmastectomy pain syndrome (PMPS) address the neural component while overlooking a possible myofascial component., Aim: The aim of the study is to investigate the myofascial contribution to PMPS, by examining the effectiveness of myofascial trigger point release by ultrasound-guided dry needling (USGDN)., Patients and Methods: This retrospective review assessed the efficacy of USGDN in addressing myofascial pain in twenty consecutive patients with treatment-refractory PMPS. Patients in Group 1 ( n = 16) received USGDN after neural interventions (NIs) such as neuraxial blocks, intrathecal pump implant, or pulsed radiofrequency, while those in Group 2 ( n = 4) received USGDN alone. Outcome measures were changes in Numerical Rating Scale (NRS), PainDETECT (PD), Disabilities of Arm, Shoulder, and Hand (DASH), Patient Health Questionnaire-9 (PHQ-9) scores, and opioid use., Results: In Group 1, the mean (standard deviation) NRS and PD scores (9.6 [0.9] and 28.3 [4.3], respectively, at baseline) reduced to 5.2 (1.1) and 16.1 (3.7) at 1-week post-NI. The post-NI DASH reduction was below the cutoff for clinical relevance (80.9 [10.5] at baseline vs. 71.1 [10.5] post-NI). The opioid dose remained unchanged. Following USGDN, NRS, PD, and DASH scores further reduced to 2.3 (0.8), 6.6 (1.2), and 34.6 (14.4), respectively. Patients receiving USGDN alone also showed reduction in NRS, PD, and DASH (7.8 [1.7], 20.0 [8.0], and 61.0 [14.4] at baseline vs. 1.3 [0.5], 6.0 [1.6], and 22.5 [10.4] post-USGDN, respectively). In all patients, opioid use and PHQ-9 scores reduced only post-USGDN., Conclusions: USGDN reduced pain, disability, and opioid use, whereas NI reduced only pain. This suggests a myofascial contribution to pain and disability in PMPS., Competing Interests: There are no conflicts of interest.

A letter to the editor on amiodarone-associated neuromyopathy is presented.

Abstract: Rehabilitation improves the functional prognosis of patients after a neurologic lesion, and tendency is to begin rehabilitation as soon as possible. This review focuses on the interest and the feasibility of very early rehabilitation, initiated from critical care units. It is necessary to precisely assess patients’ impairments and disabilities in order to define rehabilitation objectives. Valid and simple tools must support this evaluation. Rehabilitation will be directed to preventing decubitus complications and active rehabilitation. The sooner rehabilitation is started; the better functional prognosis seems to be. [Copyright &y& Elsevier]

ICU acquired neuromyopathy (IANM) is the most frequent neurological pathology observed in ICU. Nerve and muscle defects are merged with neuromuscular junction abnormalities. Its physiopathology is complex. The aim is probably the redistribution of nutriments and metabolism towards defense against sepsis. The main risk factors are sepsis, its severity and its duration of evolution. IANM is usually diagnosed in view of difficulties in weaning from mechanical ventilation, but electrophysiology may allow an earlier diagnosis. There is no curative therapy, but early treatment of sepsis, glycemic control as well as early physiotherapy may decrease its incidence. The outcomes of IANM are an increase in morbi-mortality and possibly long-lasting neuromuscular abnormalities as far as tetraplegia., (Copyright © 2013 Société française d’anesthésie et de réanimation (Sfar). Published by Elsevier SAS. All rights reserved.)