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https://www.readbyqxmd.com/read/29784239/paraneoplastic-syndromes-in-ophthalmology
#1
REVIEW
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation...
May 18, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#2
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29742721/coexistence-of-lambert-eaton-myasthenic-syndrome-and-autoimmune-encephalitis-with-anti-crmp5-cv2-and-anti-gabab-receptor-antibodies-in-small-cell-lung-cancer-a-case-report
#3
Hongfang Li, Aimei Zhang, Yanlei Hao, Hongzhi Guan, Zhanyun Lv
RATIONALE: Autoimmune encephalitis and Lambert-Eaton myasthenic syndrome are classic paraneoplastic neurological conditions common in patients with small cell lung cancer. PATIENT CONCERNS: The patient complained of tiredness, fluctuating recent memory loss, and inability to find his home. His family members reported a change in character, irritability, and paranoia. One month later, the patient had 1 grand mal seizure lasting 5 minutes. DIAGNOSIS: The patient was diagnosed with limbic encephalitis combined with Lambert-Eaton myasthenic syndrome...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29710836/animal-models-of-the-neuromuscular-junction-vitally-informative-for-understanding-function-and-the-molecular-mechanisms-of-congenital-myasthenic-syndromes
#4
REVIEW
Richard G Webster
The neuromuscular junction is the point of contact between motor nerve and skeletal muscle, its vital role in muscle function is reliant on the precise location and function of many proteins. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of neuromuscular transmission with 30 or more implicated proteins. The use of animal models has been instrumental in determining the specific role of many CMS-related proteins. The mouse neuromuscular junction (NMJ) has been extensively studied in animal models of CMS due to its amenability for detailed electrophysiological and histological investigations and relative similarity to human NMJ...
April 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29704306/recessive-variants-of-musk-are-associated-with-late-onset-cms-and-predominant-limb-girdle-weakness
#5
David Owen, Ana Töpf, Veeramani Preethish-Kumar, Paolo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias-Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29702980/chrne-compound-heterozygous-mutations-in-congenital-myasthenic-syndrome-a-case-report
#6
Kunfang Yang, Hongyi Cheng, Fang Yuan, Linyi Meng, Rongrong Yin, Yuanfeng Zhang, Simei Wang, Chunmei Wang, Yanfen Lu, Jiaming Xi, Qin Lu, Yucai Chen
RATIONALE: Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnosis had implications for choice of treatment and genetic counseling. PATIENT CONCERNS: A 3-year-old male patient with CMS had ptosis and limb weakness for 2 months after birth...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29700358/premyogenic-progenitors-derived-from-human-pluripotent-stem-cells-expand-in-floating-culture-and-differentiate-into-transplantable-myogenic-progenitors
#7
Fusako Sakai-Takemura, Asako Narita, Satoru Masuda, Toshifumi Wakamatsu, Nobuharu Watanabe, Takashi Nishiyama, Ken'ichiro Nogami, Matthias Blanc, Shin'ichi Takeda, Yuko Miyagoe-Suzuki
Human induced pluripotent stem cells (hiPSCs) are a potential source for cell therapy of Duchenne muscular dystrophy. To reliably obtain skeletal muscle progenitors from hiPSCs, we treated hiPS cells with a Wnt activator, CHIR-99021 and a BMP receptor inhibitor, LDN-193189, and then induced skeletal muscle cells using a previously reported sphere-based culture. This protocol greatly improved sphere formation efficiency and stably induced the differentiation of myogenic cells from hiPS cells generated from both healthy donors and a patient with congenital myasthenic syndrome...
April 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29696584/how-to-spot-congenital-myasthenic-syndromes-resembling-the-lambert-eaton-myasthenic-syndrome-a-brief-review-of-clinical-electrophysiological-and-genetics-features
#8
REVIEW
Paulo José Lorenzoni, Rosana Herminia Scola, Claudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rita Horvath, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS that share the same electrophysiological features. They have low compound muscular action potential amplitude that increment after brief exercise (facilitation) or high-frequency repetitive nerve stimulation. Although clinical signs similar to LEMS can be present, the main hallmark is the electrophysiological findings, which are identical to autoimmune LEMS...
April 25, 2018: Neuromolecular Medicine
https://www.readbyqxmd.com/read/29671051/update-on-muscle-disease
#9
J Witherick, S Brady
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions...
April 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29663639/a-novel-ecel1-mutation-expands-the-phenotype-of-distal-arthrogryposis-multiplex-congenita-type-5d-to-include-pretibial-vertical-skin-creases
#10
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29657216/colistin-induced-myasthenic-syndrome-in-a-patient-with-end-stage-renal-disease
#11
Pratim Sengupta, Sumanta Biswas
With resurgence of multidrug resistance (MDR) bacteria and no new novel broad-spectrum antibiotic in research pipeline, usage of older generation antibiotics, once discarded due to their toxicity profile are becoming popular again. Often these drugs are the only option left in managing MDR bacteria-related sepsis. Colistin is one of such antibiotic which is often used in recent times after decades of its avoidance due to its diverse toxicity profile. In this case report, we present a rare myasthenic syndrome like neuromuscular complication developed in a patient after receiving colistin for treatment of MDR Klebsiella-related urosepsis...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29655456/lambert-eaton-myasthenic-syndrome
#12
REVIEW
Vita G Kesner, Shin J Oh, Mazen M Dimachkie, Richard J Barohn
Lambert-Eaton myasthenic syndrome is a paraneoplastic or primary autoimmune neuromuscular junction disorder characterized by proximal weakness, autonomic dysfunction and ariflexia. The characteristic symptoms are thought to be caused by antibodies generated against the P/Q-type voltage-gated calcium channels present on presynaptic nerve terminals and by diminished release of acetylcholine. More than half of Lambert-Eaton myasthenic syndrome cases are associated with small cell lung carcinoma. Diagnosis is confirmed by serologic testing and electrophysiologic studies...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29655455/congenital-myasthenic-syndromes
#13
REVIEW
Perry B Shieh, Shin J Oh
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic terminal, the synaptic cleft, or the postsynaptic terminal. Many of these syndromes present within the first few years of life with fluctuating and fatiguable weakness in a distribution similar to myasthenia gravis, although a limb-girdle distribution and late onset are also seen in certain specific types of CMS...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29626165/collagen-xiii-is-required-for-neuromuscular-synapse-regeneration-and-functional-recovery-after-peripheral-nerve-injury
#14
Zarin Zainul, Anne Heikkinen, Hennariikka Koivisto, Iina Rautalahti, Mika Kallio, Shuo Lin, Heli Härönen, Oula Norman, Markus A Rüegg, Heikki Tanila, Taina Pihlajaniemi
Collagen XIII occurs as both a transmembrane-bound and a shed extracellular protein, and is able to regulate the formation and function of neuromuscular synapses. Its absence results in myasthenia, i.e. pre-and postsynaptic defects at the neuromuscular junction (NMJ), leading to destabilization of the motor nerves, muscle regeneration and atrophy. Mutations in COL13A1 have recently been found to cause congenital myasthenic syndrome (CMS), characterized by fatigue and chronic muscle weakness, which may be lethal...
April 6, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#15
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29597332/makaluvamine-g-from-the-marine-sponge-zyzzia-fuliginosa-inhibits-muscle-nachr-by-binding-at-the-orthosteric-and-allosteric-sites
#16
Denis S Kudryavtsev, Ekaterina N Spirova, Irina V Shelukhina, Lina V Son, Yana V Makarova, Natalia K Utkina, Igor E Kasheverov, Victor I Tsetlin
Diverse ligands of the muscle nicotinic acetylcholine receptor (nAChR) are used as muscle relaxants during surgery. Although a plethora of such molecules exists in the market, there is still a need for new drugs with rapid on/off-set, increased selectivity, and so forth. We found that pyrroloiminoquinone alkaloid Makaluvamine G (MG) inhibits several subtypes of nicotinic receptors and ionotropic γ-aminobutiric acid receptors, showing a higher affinity and moderate selectivity toward muscle nAChR. The action of MG on the latter was studied by a combination of electrophysiology, radioligand assay, fluorescent microscopy, and computer modeling...
March 28, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29526952/lambert-eaton-myasthenic-syndrome-associated-with-synchronous-double-cancer-a-combination-of-small-cell-carcinoma-of-the-cervix-and-breast-carcinoma
#17
Hiroyuki Fukuda, Akira Tanaka, Yasuyuki Hirashima, Ichiro Ito
Lambert-Eaton myasthenic syndrome (LEMS) is most commonly associated with small cell lung carcinoma, while it is rarely associated with gynecological and breast carcinoma. We herein report a case of LEMS associated with synchronous double cancer, which was a combination of small cell carcinoma of the cervix and breast carcinoma. The early diagnosis and treatment of LEMS are important for achieving a good outcome. The possibility of accompanying paraneoplastic neurological syndrome must be sufficiently considered in gynecology and breast cancer patients...
March 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29518096/myasthenia-gravis-seronegative-for-acetylcholine-receptor-antibodies-in-south-korea-autoantibody-profiles-and-clinical-features
#18
Kee Hong Park, Patrick Waters, Mark Woodhall, Bethan Lang, Thomas Smith, Jung-Joon Sung, Kwang-Kuk Kim, Young-Min Lim, Jee-Eun Kim, Byung-Jo Kim, Jin-Sung Park, Jeong-Geon Lim, Dae-Seong Kim, Ohyun Kwon, Eun Hee Sohn, Jong Seok Bae, Byung-Nam Yoon, Nam-Hee Kim, Suk-Won Ahn, Jeeyoung Oh, Hyung Jun Park, Kyong Jin Shin, Yoon-Ho Hong
Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). There seem to be ethnic and regional differences in the frequency and clinical features of MG seronegative for the AChR antibody. This study aimed to describe the autoantibody profiles and clinical features of Korean patients with generalized MG seronegative for the AChR antibody. A total of 62 patients with a high index of clinical suspicion of seronegative generalized MG were identified from 18 centers, and we examined their sera for antibodies to clustered AChR, muscle-specific tyrosine kinase (MuSK), and low-density lipoprotein receptor-related protein 4 (LRP4) by cell-based assays (CBA) and to MuSK by radioimmunoprecipitation assay (RIPA)...
2018: PloS One
https://www.readbyqxmd.com/read/29507855/pure-ocular-weakness-as-the-initial-manifestation-of-lambert-eaton-myasthenic-syndrome
#19
Nakul Katyal, Raghav Govindarajan
Pure ocular presentation of Lambert-Eaton syndrome is not a common phenomenon. Such presentation poses significant diagnostic challenges and requires conscientious evaluation. In this review, we have described a case of a patient with pure ocular weakness, initially diagnosed as seronegative ocular myasthenia which on further evaluation was found to have ocular Lambert-Eaton myasthenic syndrome (LEMS).
December 31, 2017: Curēus
https://www.readbyqxmd.com/read/29497086/an-allosteric-link-connecting-the-lipid-protein-interface-to-the-gating-of-the-nicotinic-acetylcholine-receptor
#20
Jaimee A Domville, John E Baenziger
The mechanisms underlying lipid-sensing by membrane proteins is of considerable biological importance. A unifying mechanistic question is how a change in structure at the lipid-protein interface is translated through the transmembrane domain to influence structures critical to protein function. Gating of the nicotinic acetylcholine receptor (nAChR) is sensitive to its lipid environment. To understand how changes at the lipid-protein interface influence gating, we examined how a mutation at position 418 on the lipid-facing surface of the outer most M4 transmembrane α-helix alters the energetic couplings between M4 and the remainder of the transmembrane domain...
March 1, 2018: Scientific Reports
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