-
BMJ Case Reports Mar 2016We report a case of a 19-year-old immunocompetent Malay woman who presented with a worsening psychotic disorder of 1-year duration. She initially presented with social...
We report a case of a 19-year-old immunocompetent Malay woman who presented with a worsening psychotic disorder of 1-year duration. She initially presented with social isolation with subsequent mutism and stupor. Physical examination revealed a stuporous, emaciated, dehydrated woman with Glasgow Coma Scale of 11/15 (E4V2M5). She had a blank stare, mutism and akinesia. Motor examination revealed upper motor neuron findings. Neck stiffness was present, however, Kernig's and Brudzinski's signs were negative. There were no other findings on other systems. Brain imaging and EEG were normal. Cerebrospinal fluid investigations revealed positive cerebrospinal fluid Mycobacterium tuberculosis PCR (MTB PCR). The patient was treated with empirical antituberculosis drugs and steroids. On follow-up visit 1 month later, her psychotic symptoms had fully resolved. She was able to ambulate and care for herself; she was unable to recall the symptoms she had experienced before and during admission.
Topics: Antitubercular Agents; Female; Humans; Mycobacterium tuberculosis; Psychotic Disorders; Reflex, Abnormal; Steroids; Tuberculosis, Meningeal; Young Adult
PubMed: 26969352
DOI: 10.1136/bcr-2015-213171 -
Scientific Reports Nov 2020Ciliopathies are clinical disorders of the primary cilium with widely recognised phenotypic and genetic heterogeneity. Here, we found impaired ciliogenesis in...
Ciliopathies are clinical disorders of the primary cilium with widely recognised phenotypic and genetic heterogeneity. Here, we found impaired ciliogenesis in fibroblasts derived from individuals with fetal akinesia deformation sequence (FADS), a broad spectrum of neuromuscular disorders arising from compromised foetal movement. We show that cells derived from FADS individuals have shorter and less primary cilia (PC), in association with alterations in post-translational modifications in α-tubulin. Similarly, siRNA-mediated depletion of two known FADS proteins, the scaffold protein rapsyn and the nucleoporin NUP88, resulted in defective PC formation. Consistent with a role in ciliogenesis, rapsyn and NUP88 localised to centrosomes and PC. Furthermore, proximity-ligation assays confirm the respective vicinity of rapsyn and NUP88 to γ-tubulin. Proximity-ligation assays moreover show that rapsyn and NUP88 are adjacent to each other and that the rapsyn-NUP88 interface is perturbed in the examined FADS cells. We suggest that the perturbed rapsyn-NUP88 interface leads to defects in PC formation and that defective ciliogenesis contributes to the pleiotropic defects seen in FADS.
Topics: Abnormalities, Multiple; Arthrogryposis; Cell Nucleus; Cell Proliferation; Cellular Senescence; Centrosome; Cilia; Fibroblasts; Humans; Image Processing, Computer-Assisted; Microscopy, Confocal; Microtubules; Muscle Proteins; Nuclear Pore Complex Proteins; Protein Isoforms; Protein Processing, Post-Translational; RNA, Small Interfering; Transfection; Tubulin
PubMed: 33168876
DOI: 10.1038/s41598-020-76192-1 -
Indian Journal of Pharmacology 2022The present study investigates the antiParkinsonian activity of dipeptidyl peptidase-4 (DPP-IV) inhibitor, linagliptin. The experimental Parkinson's disease (PD) was...
The present study investigates the antiParkinsonian activity of dipeptidyl peptidase-4 (DPP-IV) inhibitor, linagliptin. The experimental Parkinson's disease (PD) was induced by administration of rotenone at a dose of 1.5 mg/kg at alternate day subcutaneously for 21 days. Standard drug (levodopa-200 mg/kg and carbidopa-50 mg/kg) and treatment drug (linagliptin-5 mg/kg, 10 mg/kg, and 20mg/kg) were administered orally daily 1 h before rotenone administration. In a rat rotenone model, linagliptin improved muscle coordination, motor performance, and corrected akinesia. Pretreatment with linagliptin showed significant higher levels of superoxide dismutase, catalase, and glutathione in brain homogenate of animals. Linagliptin significantly elevated the levels of striatal DA and active glucagon-like peptide 1 in brain homogenate of animals. Furthermore, linagliptin amended alterations induced by rotenone in the thiobarbituric acid reactive substances and inflammatory marker such as tumor necrosis factor-α level. The results of the present study indicate the neuroprotective potential of linagliptin for the management of PD might be due to remarkable improvement in motor functions, antioxidant, anti-inflammatory, anti-apoptotic, and neuroprotective mechanisms.
Topics: Animals; Levodopa; Linagliptin; Neuroprotective Agents; Parkinson Disease; Rats; Rotenone
PubMed: 35343207
DOI: 10.4103/ijp.IJP_384_20 -
Journal of Clinical Movement Disorders 2017Pure akinesia with gait freezing is a rare syndrome with few autopsied cases. Severe freezing of gait occurs in the absence of bradykinesia and rigidity. Most autopsies...
BACKGROUND
Pure akinesia with gait freezing is a rare syndrome with few autopsied cases. Severe freezing of gait occurs in the absence of bradykinesia and rigidity. Most autopsies have revealed progressive supranuclear palsy. We report the clinical and postmortem findings of two patients with pure akinesia with gait freezing, provide video recordings of these patients, and review the literature describing similar cases. We also discuss bradykinesia, hypokinesia and akinesia in the context of this clinical syndrome.
CASE PRESENTATION
Two patients with the syndrome of pure akinesia with gait freezing were examined by the same movement disorder specialist at least annually for 9 and 18 years. Both patients initially exhibited freezing, tachyphemia, micrographia and festination without bradykinesia and rigidity. Both autopsies revealed characteristic tau pathology of progressive supranuclear palsy, with nearly total neuronal loss and gliosis in the subthalamus and severe neuronal loss and gliosis in the globus pallidus and substantia nigra. Previously published postmortem studies revealed that most patients with this syndrome had progressive supranuclear palsy or pallidonigroluysian atrophy.
CONCLUSIONS
Pallidonigroluysian degeneration produces freezing and festination in the absence of generalized slowing (bradykinesia). Freezing and festination are commonly regarded as features of akinesia. Akinesia literally means absence of movement, and akinesia is commonly viewed as an extreme of bradykinesia. The pure akinesia with gait freezing phenotype illustrates that bradykinesia and akinesia should be viewed as separate phenomena.
PubMed: 29051824
DOI: 10.1186/s40734-017-0063-1 -
Journal of Pharmacology &... 2017To compare the effect of addition of fentanyl and clonidine as adjuvants to bupivacaine and lignocaine in peribulbar block.
OBJECTIVE
To compare the effect of addition of fentanyl and clonidine as adjuvants to bupivacaine and lignocaine in peribulbar block.
METHODS
The study was conducted on 105 adult patients of either sex, of ASA grade I and II undergoing ophthalmic surgeries. Patients were randomly divided into 3 groups of 35 each. All the patients were given peribulbuar block with 5ml lignocaine 2% +3 ml bupivacaine 0.5% +1 ml hyaluronidase (250 IU). In addition to this 1 ml normal saline was added to Group S, 25 μg fentanyl to Group F and 25 μg clonidine to Group C. Onset and duration of globe and lid akinesia, duration of sensory blockage and analgesia, hemodynamic parameters, number of rescue analgesic and visual analogue score were recorded.
RESULTS
The mean time of onset of globe and lid akinesia was significantly faster in group F and group C compared to group S, mean duration of globe and lid akinesia was longer in Group F (207.71 + 13.54 and 143.14 + 7.86 min) and group C (213.52 + 14.52 and 162.06 + 17.1 min) compared to group S (117.78 + 10.42 and 87.64 + 9.76 min). The mean duration of analgesia was significantly longer in group F (217.71 + 12.67) and C (258.82 + 14.50 min) as compared to group S (131.39 + 9.63 min).
CONCLUSION
Addition of fentanyl or clonidine as adjuvant to local anaesthetic in peribulbar block provides faster onset and prolonged analgesia compared to local anaesthetic alone.
PubMed: 28405129
DOI: 10.4103/jpp.JPP_109_16 -
European Heart Journal. Case Reports Aug 2021Takotsubo syndrome (TTS) is a transient left ventricular dysfunction usually with apical akinesia (classical pattern). Other less frequent variants have been described:...
BACKGROUND
Takotsubo syndrome (TTS) is a transient left ventricular dysfunction usually with apical akinesia (classical pattern). Other less frequent variants have been described: the mid-ventricular pattern is characterized by hypokinesia of the mid-left ventricle and hypercontractile apical and basal segments; the inverted or basal pattern is characterized by basal and mid-ventricular segment hypokinesia or akinesia with preserved contractility or hypercontractility of apical segments and finally the focal pattern. There are also biventricular variants and forms with exclusive involvement of the right ventricle. There is a correlation between endocrine disorders and TTS, the one most frequently described is with pheochromocytoma. Catecholamine-mediated myocarditis, focal and diffuse myocardial fibrosis, and myocardial dysfunction are described in pheochromocytoma.
CASE SUMMARY
We describe a case of a 69-year-old patient with a recent diagnosis of hypertension and Graves' disease, hospitalized for persistent chest pain, hypertensive crisis, tachycardia, dyspnoea, and diaphoresis. Thyroid hormones, antibodies to TSH receptors, and hs-troponin I were increased. Electrocardiogram showed sinus tachycardia at 130 b.p.m., first-degree atrioventricular block, signs of left ventricular hypertrophy with inverted T wave in V4-V6. Echocardiogram demonstrated left ventricular apical and para-apical akinesia. Coronary angiography ruled out an obstructive coronary artery disease. Computed tomography angiogram aortic dissection ruled out aortic dissection but incidentally revealed a left adrenal mass compatible with a pheochromocytoma. Plasma and urinary metanephrines were increased. A TTS secondary to pheochromocytoma and hyperthyroidism was diagnosed. Pharmacological treatment included nitrates, urapidil and esmolol IV and methimazole at high doses. Type 2 multiple endocrine neoplasia has been excluded. After a complete haemodynamic stability on 20th day of hospitalization, the patient underwent an adrenalectomy.
DISCUSSION
High levels of catecholamines in pheochromocytoma can lead to myocardial dysfunction. Similarly, an excess of thyroid hormones with up-regulation of adrenergic system can lead to myocardial dysfunction. These two conditions, if both present, define a high haemodynamic risk profile. How do catecholamines interact with the thyroid gland? The clinical case is of interest as a relationship has been hypothesized between the incretion of plasma catecholamines and Graves' disease. We suppose an imbalance of the immune system with a predominance of the T helper-type 2 (Th2)-mediated response. Predominance of Th2-mediated immune response may induce humoral immunity causing Graves' disease. In addition Th2 cytokines are strong inducers of M2 macrophages (alternatively activated) that are involved in autoimmune diseases, myocarditis, and myocardial fibrosis. Knowing the interaction between the cardiovascular system, immune response, and endocrine glands can help define the patient's risk class, possible complications, and follow-up.
PubMed: 34423242
DOI: 10.1093/ehjcr/ytab270 -
The Tohoku Journal of Experimental... Sep 2010Parkinson's disease (PD) is characterized by resting tremor, slow and decreased movement (hypokinesia and akinesia), rigidity, postural instability, problems with gait,... (Review)
Review
Parkinson's disease (PD) is characterized by resting tremor, slow and decreased movement (hypokinesia and akinesia), rigidity, postural instability, problems with gait, and coordination. The prevalence of PD is between 0.1% and 0.3% in the general population and between 1% and 2% in persons 65 years of age or older. Patients with PD are more likely to suffer from pain. Indeed, the chief complaint of patients with severe motor disturbance and severe pain is pain rather than motor disturbance. Fibromyalgia (FM) is defined by widespread pain (pain in the left and right sides of the body, pain above the waist, pain below the waist, and axial skeletal pain) for more than 3 months and the presence of at least 11 of the 18 specified tender points. FM and chronic widespread pain (CWP), which is usually an incomplete form of FM, cause pain in the musculoskeletal region, but their etiologies are unknown. Therefore, it is almost impossible to determine whether or not pain in the musculoskeletal region is in the musculoskeletal origin. We suspect that dysfunction or degeneration of the nerves that control pain, mind, and movement in the brain causes FM, depression, and PD, respectively. When pain in PD is discussed, FM and CWP should be considered because their prevalence is high. Patients with PD may be likely to suffer from FM and CWP; however, the prevalence of FM and CWP in patients with PD has not been reported. Here, we discuss the relationship between PD and FM or CWP.
Topics: Chronic Disease; Depression; Fibromyalgia; Humans; Pain; Parkinson Disease
PubMed: 20805678
DOI: 10.1620/tjem.222.1 -
European Heart Journal. Case Reports Mar 2019Omalizumab is a humanized monoclonal anti-immunoglobulin E antibody, approved for the treatment of spontaneous chronic urticaria, with high efficacy and an excellent...
BACKGROUND
Omalizumab is a humanized monoclonal anti-immunoglobulin E antibody, approved for the treatment of spontaneous chronic urticaria, with high efficacy and an excellent safety profile. Although its adverse effects are rare, allergic reactions and cardiovascular events were previously described.
CASE SUMMARY
The authors describe the case of a 75-year-old woman, followed at the outpatient dermatology clinic due to spontaneous chronic urticaria, treated with omalizumab 300 mg every 4 weeks. After the 11th administration of omalizumab, the patient developed an episode of thoracalgia associated with electro- and echocardiographic abnormalities. Coronary angiogram excluded coronary artery disease, and left ventriculography demonstrated mid-apical akinesia and basal hyperkinesia, consistent with the Takotsubo syndrome (TS).
DISCUSSION
Takotsubo syndrome was already reported in association with other monoclonal antibodies. However, to our knowledge, this is the first case of TS following the administration of omalizumab.
PubMed: 31020231
DOI: 10.1093/ehjcr/yty155 -
Journal of Geriatric Cardiology : JGC Jul 2022
PubMed: 35975017
DOI: 10.11909/j.issn.1671-5411.2022.07.005 -
Clinical Ophthalmology (Auckland, N.Z.) 2013This randomized double-blind study examined the use of a new anesthetic agent, levobupivacaine 0.5%, which is the S(-)-enantiomer of a racemic mixture of bupivacaine,...
BACKGROUND
This randomized double-blind study examined the use of a new anesthetic agent, levobupivacaine 0.5%, which is the S(-)-enantiomer of a racemic mixture of bupivacaine, for peribulbar anesthesia and compared it with racemic bupivacaine 0.5% alone or in combination with hyaluronidase 10 IU/mL.
METHODS
A total of 160 patients undergoing ophthalmic surgery were randomized into four groups (n = 40 each) to receive inferotemporal peribulbar injection of levobupivacaine 0.5% (group L), racemic bupivacaine 0.5% (group B), levobupivacaine + hyaluronidase 10 IU/mL (group LH), or racemic bupivacaine + hyaluronidase 10 IU/mL (group BH) by two anesthetists and two ophthalmologists in a ratio of 25% each. Ocular akinesia and orbicularis oculi function were evaluated using a three-point scale; a value < 5 points was considered as requiring surgery, and movements were re-evaluated the day following surgery to confirm regression of the block.
RESULTS
The time to onset (12 ± 2.6 minutes versus 13 ± 2.8 minutes) and duration of anesthesia (185 ± 33.2 minutes versus 188 ± 35.7 minutes) were similar between groups L and B. Complete akinesia (score 0) was obtained more frequently when hyaluronidase was used in addition to the anesthetic, with occurrences of 72.5% versus 57.5% in group LH versus L, respectively, and 67.5% versus 45% in group BH versus B. Moderate hypotension (<30% of baseline) was observed in four patients (10%) in group L, two (5.0%) in group B, one (2.5%) in group LH, and three (7.5%) in group BH. The time to onset was significantly different between groups L and BH, B and BH, and LH and BH, and the duration of anesthesia differed significantly between groups B and LH, B and BH, and L and LH. The akinesia score differed significantly between groups L and LH and between groups B and LH (P = 0.043 and P = 0.018, respectively), and the number of patients with a score of 0 differed significantly between groups B and LH and between groups B and BH (P = 0.004 and P = 0.017, respectively).
CONCLUSION
Levobupivacaine is a long-lasting local anesthetic with limited cardiotoxicity and neurotoxicity, and may be considered the landmark for vitreoretinal surgery in elderly patients.
PubMed: 23723684
DOI: 10.2147/OPTH.S43553