Pronator teres syndrome is characterized by compression of the median nerve, leading to dysfunction of the affected limb. Median nerve entrapment causes paresthesia, changes in sensitivity, and loss of strength in the fingers, in addition to causing loss of hand dexterity. The diagnosis of pronator teres syndrome is complicated, due to its similarity with other neuropathies of the median nerve. So, it is important to emphasize the need for a physical examination together with imaging tests, especially ultrasound, for its correct diagnosis. We report the case of a 28-year-old woman who complained of tingling for ten years in the proximal third of the left forearm at rest that worsens on exertion and weakness if not moving. On physical examination, she has no limitation of movement but refers to a feeling of weakness and numbness in his forearm. Ultrasonography demonstrates compression of the median nerve between the ulnar and humeral heads of the pronator teres muscle, a finding confirmed by magnetic resonance imaging and electroneuromyography. The patient was treated with physiotherapy presenting improvement of symptoms after 45 days.
- MeSH
- artrogrypóza MeSH
- dospělí MeSH
- elektromyografie metody MeSH
- hereditární motorické a senzitivní neuropatie MeSH
- lidé MeSH
- magnetická rezonanční tomografie * metody MeSH
- neuropatie nervus medianus diagnóza MeSH
- předloktí MeSH
- ultrasonografie metody MeSH
- úžinové syndromy diagnóza patofyziologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
AIM OF STUDY: To determine whether a high dose of levodopa-carbidopa intestinal gel (LCIG), expressed as levodopa equivalent daily dose (LE daily dose), is a risk factor for acute polyneuropathy in patients treated with LCIG. CLINICAL RATIONALE FOR STUDY: Treatment with LCIG is an effective device-assisted therapy in the advanced stages of Parkinson's Disease (PD). Polyneuropathy is a well-known complication of PD treatment. Patients treated with oral levodopa usually suffer from sub-clinical or mild chronic sensory polyneuropathy. However, severe acute polyneuropathy occurs in patients treated with LCIG, which is causally related to the treatment and leads to its immediate discontinuation. The etiology is not yet clear, but some patients with acute polyneuropathy have been given high doses of LCIG. MATERIAL AND METHODS: A retrospective multicentre study of patients treated with LCIG was performed. Patients with acute polyneuropathy were subjected to a detailed analysis including statistical processing. RESULTS: Of 183 patients treated with LCIG in seven centres, six patients (five females, median age 63 years) developed acute polyneuropathy with LCIG discontinuation. The median (interquartile range) initial and final LE daily dose in patients with and without acute polyneuropathy was 3,015 (2,695-3,184) and 1,898 (1,484-2,167) mg, respectively. The final LE daily dose of 2,605 mg cut-off had 83% sensitivity and 93% specificity for the prediction of acute polyneuropathy. CONCLUSIONS AND CLINICAL IMPLICATIONS: The risk of acute polyneuropathy in LCIG-treated patients was associated with a daily LE dose of greater than 2,605 mg or with more than a 62% increase in the daily LE dose during LCIG treatment.
- MeSH
- antiparkinsonika * škodlivé účinky aplikace a dávkování MeSH
- fixní kombinace léků * MeSH
- gely * MeSH
- karbidopa * aplikace a dávkování škodlivé účinky MeSH
- levodopa * aplikace a dávkování škodlivé účinky MeSH
- lidé středního věku MeSH
- lidé MeSH
- Parkinsonova nemoc * farmakoterapie MeSH
- polyneuropatie * chemicky indukované farmakoterapie MeSH
- retrospektivní studie MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- MeSH
- globus pallidus MeSH
- lidé MeSH
- paraplegie diagnóza MeSH
- spastická paraplegie dědičná * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- dopisy MeSH
Heterotopic ossification (HO) denotes aberrant osteogenesis in extra-skeletal tissues, often associated with neurological disorders, total hip arthroplasty, and specific traumatic scenarios. Neurogenic heterotopic ossification manifests prominently subsequent to traumatic brain injury or spinal cord injury, with Guillain-Barre Syndrome presenting an infrequent etiological link. This article details the case of a 56-year-old female diagnosed with Guillain-Barre Syndrome, who developed neurogenic heterotopic ossification around both hips within two years of disease onset. The patient's medical history included mechanical ventilation, incomplete tetraplegia, and prolonged immobilization. A conclusive diagnosis of HO was established through radiological and clinical assessments. After neurogenic heterotopic ossification was confirmed, the patient had surgery to remove the lesions, radiation therapy, and medication treatments as planned. Physical therapy was introduced one week post-surgery, with subsequent follow-ups tracking improvements in pain levels, range of motion (ROM), and Activities of Daily Living scores. Key words: neurogenic heterotopic ossification, Guillain-Barre syndrome, hip, excision.
- MeSH
- Guillainův-Barrého syndrom komplikace diagnóza terapie MeSH
- heterotopická osifikace * etiologie diagnóza MeSH
- kyčelní kloub * diagnostické zobrazování chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- rozsah kloubních pohybů MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy caused by a 1.5 Mb tandem duplication of chromosome 17 harbouring the PMP22 gene. This dose-dependent overexpression of PMP22 results in disrupted Schwann cell myelination of peripheral nerves. To obtain better insights into the underlying pathogenic mechanisms in CMT1A, we investigated the role of PMP22 duplication in cellular homeostasis in CMT1A mouse models and in patient-derived induced pluripotent stem cells differentiated into Schwann cell precursors (iPSC-SCPs). We performed lipidomic profiling and bulk RNA sequencing (RNA-seq) on sciatic nerves of two developing CMT1A mouse models and on CMT1A patient-derived iPSC-SCPs. For the sciatic nerves of the CMT1A mice, cholesterol and lipid metabolism was downregulated in a dose-dependent manner throughout development. For the CMT1A iPSC-SCPs, transcriptional analysis unveiled a strong suppression of genes related to autophagy and lipid metabolism. Gene ontology enrichment analysis identified disturbances in pathways related to plasma membrane components and cell receptor signalling. Lipidomic analysis confirmed the severe dysregulation in plasma membrane lipids, particularly sphingolipids, in CMT1A iPSC-SCPs. Furthermore, we identified reduced lipid raft dynamics, disturbed plasma membrane fluidity and impaired cholesterol incorporation and storage, all of which could result from altered lipid storage homeostasis in the patient-derived CMT1A iPSC-SCPs. Importantly, this phenotype could be rescued by stimulating autophagy and lipolysis. We conclude that PMP22 duplication disturbs intracellular lipid storage and leads to a more disordered plasma membrane owing to an alteration in the lipid composition, which might ultimately lead to impaired axo-glial interactions. Moreover, targeting lipid handling and metabolism could hold promise for the treatment of patients with CMT1A.
- MeSH
- buněčná membrána * metabolismus MeSH
- Charcotova-Marieova-Toothova nemoc * genetika metabolismus patologie MeSH
- duplikace genu MeSH
- homeostáza * fyziologie MeSH
- indukované pluripotentní kmenové buňky * metabolismus MeSH
- lidé MeSH
- metabolismus lipidů * fyziologie MeSH
- myelinové proteiny * metabolismus genetika MeSH
- myši MeSH
- nervus ischiadicus metabolismus MeSH
- Schwannovy buňky * metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a peripheral nerve disorder characterised by weakness and sensory loss. We assessed the neonatal Fc receptor inhibitor rozanolixizumab for CIDP management. METHODS: CIDP01 (NCT03861481) was a randomised, subject-blind, investigator-blind, placebo-controlled, phase 2a study. Adults with definite or probable CIDP receiving subcutaneous or intravenous immunoglobulin maintenance therapy were randomised 1:1 to 12 once-weekly subcutaneous infusions of rozanolixizumab 10 mg/kg or placebo, stratified according to previous immunoglobulin administration route. Investigators administering treatment and assessing efficacy, and patients, were blinded. The primary outcome was a change from baseline (CFB) to day 85 in inflammatory Rasch-built Overall Disability Scale (iRODS) score. Eligible patients who completed CIDP01 entered the open-label extension CIDP04 (NCT04051944). RESULTS: In CIDP01, between 26 March 2019 and 31 March 2021, 34 patients were randomised to rozanolixizumab or placebo (17 (50%) each). No significant difference in CFB to day 85 in iRODS centile score was observed between rozanolixizumab (least squares mean 2.0 (SE 3.2)) and placebo (3.4 (2.6); difference -1.5 (90% CI -7.5 to 4.5)). Overall, 14 (82%) patients receiving rozanolixizumab and 13 (76%) receiving placebo experienced a treatment-emergent adverse event during the treatment period. Across CIDP01 and CIDP04, rozanolixizumab was well tolerated over up to 614 days; no clinically meaningful efficacy results were seen. No deaths occurred. CONCLUSIONS: Rozanolixizumab did not show efficacy in patients with CIDP in this study, although this could be due to a relatively high placebo stability rate. Rozanolixizumab was well tolerated over medium-to-long-term weekly use, with an acceptable safety profile.
- MeSH
- chronická zánětlivá demyelinizační polyneuropatie * farmakoterapie MeSH
- dospělí MeSH
- humanizované monoklonální protilátky * terapeutické užití škodlivé účinky aplikace a dávkování MeSH
- intravenózní imunoglobuliny terapeutické užití škodlivé účinky MeSH
- jednoduchá slepá metoda MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- klinické zkoušky, fáze II MeSH
- multicentrická studie MeSH
- randomizované kontrolované studie MeSH
BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an inflammatory disease affecting the peripheral nerves and the most frequent autoimmune polyneuropathy. Given the lack of established biomarkers or risk factors for the development of CIDP and patients' treatment response, this research effort seeks to identify potential clinical factors that may influence disease progression and overall treatment efficacy. METHODS: In this multicenter, retrospective analysis, we have screened 197 CIDP patients who presented to the University Hospitals in Düsseldorf, Berlin, Cologne, Essen, Magdeburg and Munich between 2018 and 2022. We utilized the respective hospital information system and examined baseline data with clinical examination, medical letters, laboratory results, antibody status, nerve conduction studies, imaging and biopsy findings. Aside from clinical baseline data, we analyzed treatment outcomes using the Standard of Care (SOC) definition, as well as a comparison of an early (within the first 12 months after manifestation) versus late (more than 12 months after manifestation) onset of therapy. RESULTS: In terms of treatment, most patients received intravenous immunoglobulin (56%) or prednisolone (39%) as their first therapy. Patients who started their initial treatment later experienced a worsening disease course, as reflected by a significant deterioration in their Inflammatory Neuropathy Cause and Treatment (INCAT) leg disability score. SOC-refractory patients had worse clinical outcomes than SOC-responders. Associated factors for SOC-refractory status included the presence of fatigue as a symptom and alcohol dependence. CONCLUSION: Timely diagnosis, prompt initiation of treatment and careful monitoring of treatment response are essential for the prevention of long-term disability in CIDP and suggest a "hit hard and early" treatment paradigm.
- MeSH
- chronická zánětlivá demyelinizační polyneuropatie * diagnóza terapie farmakoterapie MeSH
- dospělí MeSH
- intravenózní imunoglobuliny terapeutické užití aplikace a dávkování MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- prednisolon terapeutické užití aplikace a dávkování MeSH
- progrese nemoci MeSH
- retrospektivní studie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Východiska: Osteosklerotická ložiska detekovaná u pacienta s monoklonální gamapatií znamenají většinou diagnózu syndromu POEMS. Osteosklerotický myelom bez dalších projevů patřících do obrazu syndromu POEMS je naprosto výjimečný nález. Popis případu: U 46leté ženy způsobily osteosklerotické změny temporoparietální oblasti zduření měkkých tkání nad ložiskem a bolest v této oblasti. Biopsie parietální kosti prokázala osteosklerózu s nevelkou klonální plazmocelulární infiltrací. Monoklonální imunoglobulin typu IgG-lambda (podtřídy IgG1) v séru byl v koncentraci 8 g/l. V kostní dřeni byla zjištěna jen nepočetná infiltrace (8 %) atypickými plazmatickými buňkami. Flow-cytometrické vyšetření kostní dřeně detekovalo mezi všemi jadernými buňkami 0,37 % plazmatických buněk, z nichž ale 91 % bylo klonálních s expresí lambda řetězců. V rámci hledání jiných příčin osteosklerózy bylo provedeno FDG-PET/CT vyšetření, které neodhalilo žádnou ložiskovou akumulaci FDG, tedy žádný jiný tumor (karcinom prsu anebo žaludku), který by mohl tyto kostní změny způsobit. Low-dose CT prokázalo nepravidelnou strukturu skeletu mimo kalvu. Jednoznačná osteosklerotická či osteolytická ložiska nebyla na low-dose CT zřetelná. Pro zmapování rozsahu ložisek intenzivní kostní novotvorby následovalo NaF-PET/CT vyšetření, které zviditelnilo mnohočetná ložiska s intenzivní novotvorbou kosti, a tedy i vysokou akumulací fluoridu. MR mozku zjistilo ložiska pachymeningitidy. Pacientka neměla příznaky syndromu POEMS, a tak jsme diagnózu uzavřeli jako monoklonální gamapatie klinického významu (monoclonal gamapathy of clinical significance – MGCS) s osteosklerózou, která se dříve nazývala osteosklerotický mnohočetný myelom. Závěr: MGCS s osteosklerotickými změnami skeletu bez známek syndromu POEMS je extrémně vzácná forma plazmocelulární dyskrazie. Od klasického mnohočetného myelomu se liší indolentním průběhem a příznivější prognózou. Publikace dokumentuje unikátní klinické projevy této nemoci a přínos zobrazení NaF-PET/CT.
Introduction: Multiple myeloma is a common plasma cell neoplasia usually accompanied by the formation of osteolytic foci, whereas osteosclerotic myeloma is a very rare form of plasma cell dyscrasia. When osteosclerotic myeloma is detected, osteosclerotic foci are usually part of the POEMS syndrome. Osteosclerotic myeloma without other manifestations of the POEMS syndrome is an unusual finding. Case description: In a 46-year-old woman, osteosclerotic changes of the temporoparietal region caused soft tissue induration over this lesion, which initiated further investigation. Imaging studies subsequently showed multiple osteosclerotic foci in the skull. Examination of blood proteins revealed 8 g/L of IgG-lambda monoclonal immunoglobulin, subclass IgG1. In search of the cause of the osteosclerotic changes, FDG-PET/CT was performed, which revealed no FDG accumulation, i.e., no other tumor (breast or stomach cancer). Low-dose CT showed irregular bone structure, but not significant osteolytic or osteosclerotic foci. To map the extent of osteosclerotic changes, NaF-PET/CT imagination followed, which revealed multiple spots with high fluoride accumulation. A parietal bone biopsy showed osteosclerosis with minor clonal plasma cell infiltration. Trepanobioptic bone marrow sampling revealed an infiltration of bone marrow with atypical plasma cells in 8%. Flow-cytometric examination of bone marrow showed 0,37% of plasma cells, however predominantly (91%) clonal with lambda expression. MRI of the brain identified asymptomatic meningeal thickening. There was no evidence of POEMS syndrome in the patient; thus, we concluded the diagnosis as monoclonal gammopathy of clinical significance with osteosclerosis which was previously termed osteosclerotic multiple myeloma. Conclusion: Monoclonal gammopathy of clinical significance (MGCS) with osteosclerotic skeletal changes, documented on CT and multiple foci with intensive osteoneogenesis, documented on NaF-PET/CT without evidence of POEMS syndrome, is an extremely rare form of plasma cell dyscrasia. This publication documents the unique clinical manifestations of IgG-lambda type plasma cell proliferation without signs of POEMS syndrome and the role of NaF-PET/CT imaging. Classification of this disease as MGSC with osteosclerotic manifestations is more consistent with the indolent nature of the disease with a significantly better prognosis, compared with multiple myeloma.
- MeSH
- buňky kostní dřeně patologie MeSH
- diferenciální diagnóza MeSH
- histologické techniky MeSH
- hypergamaglobulinemie * diagnóza komplikace patologie MeSH
- kostra diagnostické zobrazování patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- osteoskleróza * diagnostické zobrazování imunologie komplikace patologie MeSH
- paraproteinemie diagnóza komplikace patologie MeSH
- PET/CT MeSH
- počítačová rentgenová tomografie MeSH
- POEMS syndrom diagnóza patologie MeSH
- temenní kost patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Transthyretinová amyloidóza je multisystémové onemocnění s variabilní manifestací a poměrně nepříznivou prognózou. Novou možností specifické terapie je tafamidis, selektivní stabilizátor transthyretinu. V současné době je tafamidis indikován k léčbě jak wild-type, tak i hereditární formy onemocnění s cílem redukce symptomů, hospitalizací z kardiovaskulárních příčin a mortality u pacientů, kteří jsou ve funkční třídě NYHA I nebo II.
Transthyretin amyloidosis is a multisystem disease with variable manifestations and a relatively unfavorable prognosis. A new option for specific therapy is tafamidis, a selective transthyretin stabilizer. Currently, tafamidis is indicated for the treatment of wild-type and hereditary forms of the disease with the goal of reducing symptoms, cardiovascular hospitalizations and mortality in patients who are in NYHA functional class I or II.
- Klíčová slova
- transthyretinová amyloidóza, tafamidis, studie ATTR-ACT,
- MeSH
- amyloidóza * farmakoterapie genetika mortalita patofyziologie MeSH
- časná diagnóza MeSH
- kardiomyopatie diagnóza etiologie mortalita MeSH
- lidé MeSH
- polyneuropatie diagnóza etiologie MeSH
- prealbumin antagonisté a inhibitory fyziologie MeSH
- randomizované kontrolované studie jako téma MeSH
- věkové faktory MeSH
- Check Tag
- lidé MeSH
Syndrom kaudy equiny (cauda equina syndrome; CES) patří mezi onemocnění s potenciálně vysokou neurologickou morbiditou. Pacienti přicházejí s různě vyjádřeným neurologickým deficitem, zahrnujícím zejména sfinkterové potíže, který je nutné včasně diagnostikovat a správně indikovat chirurgickou léčbu. V naší retrospektivní studii jsme se zaměřili na různé prognostické faktory a jejich vliv na výsledný neurologický stav pacientů s CES. Do studie bylo zařazeno celkově 44 pacientů s CES. Statisticky významným faktorem se ukázala doba trvání příznaků. Pacienti s kratší anamnézou neurologické symptomatologie měli lepší výsledný neurologický stav. Také je průkazně pozitivní vztah mezi vstupním a výstupním skóre, tedy výsledný stav se odvíjí od tíže neurologického deficitu při přijetí pacienta. Ostatní faktory byly statisticky nevýznamné.
Cauda equina syndrome (CES) is a severe neurological condition with potentially high morbidity. Patients usually present with varying degrees of neurological deficit, especially sphincter dysfunction, which needs to be diagnosed early and correctly indicated for surgical treatment. Our retrospective study is focused on the determination of different prognostic factors and their impact on the final neurological outcome of patients with CES. Forty-four CES patients were recruited in the study. The duration of symptoms has proven to be a statistically significant factor in improving the clinical condition. Patients with a shorter medical history of neurological symptomatology had a better neurological outcome. Also, there was a positive relationship between the initial and outcome score, i.e., the outcome status is related to the severity of the neurological deficit on admission. The remaining factors appeared to be statistically insignificant.
