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The simultaneous determination of 17 amino acids in connective tissue using capillary electrophoresis is described in this study. Separation was carried out on a fused silica capillary column (80 cm x 50 mm i.d.) with 1M formic acid as the running electrolyte. The detection was conducted on a mass spectrometer by selective reaction monitoring (SRM) mode via an electrospray ionization source. Tissue samples were prepared by reduction and acid hydrolysis to extract amino acids; over 84.3% recovery was seen for all compounds. The method allowed for sensitive, reproducible, and reliable quantification, and all 17 amino acids were separated using this method. Good linearity over the investigated concentration ranges was observed, with values of R higher than 0.993 for all the analytes. Precision and accuracy examined at three concentration levels ranged from 0.2% to 19.5% and 84.1% to 120.0%, respectively. Matrix effects were also tested and ranged from -9.1% to 15.4%. The validated method was applied to the quantitation of 17 amino acids in pelvic connective tissue of pelvic organ prolapsed patients. Methionine, glutamine, and histidine were significantly higher in the experimental patients compared to the controls. This suggests that changes in the amino acid concentrations within the connective tissue could be a factor in the genesis of pelvic organ prolapse. Therefore, this method is potentially applicable for amino acid analysis in tissue, providing a more complete understanding of pelvic organ prolapse.
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PMID:Quantitative analysis of 17 amino acids in the connective tissue of patients with pelvic organ prolapse using capillary electrophoresis-tandem mass spectrometry. 1833 89

Myasthenia gravis (MG) is a chronic neuromuscular disease which leads to varying degrees of weakness in the skeletal muscles. Some of the symptoms of the disorder include weakness of the eye muscles, difficulty in swallowing and slurred speech. When only the muscles of the eyes are affected, the illness is termed ocular myasthenia, which is often characterized by abrupt onset of diplopia and ptosis of the eyelid. In most patients with ocular-onset MG, there is a progression to involvement of other muscle groups within the first two years (generalized myasthenia). In the case reported here, a 39-year-old male of Ecuadorian descent complained of difficulty seeing, double vision, dizziness, unsteady gait, difficulty maintaining balance and fatigue for the previous two days. Neurological examination was remarkable for total external ophthalmoplegia. There was no external bulbar muscle paralysis, motor weakness, muscle wasting, sensory deficits or sphincter dysfunction. His laboratory workup was significant for elevated acetylcholine receptor antibody. He was diagnosed with ocular MG after differential diagnoses were ruled out based on the onset and presentation of symptoms, the patient's age and a normal magnetic resonance imaging exam. No signs of generalized myasthenia were detected. His symptoms improved dramatically after treatment with Acetyl cholinesterase (AchE) inhibitors and steroids, regaining much of his ocular mobility and ability to walk without gait imbalance. At follow-up visits, the patient remained healthy with no evidence development of other myasthenic signs. This case is atypical since ocular MG does not normally occur in the absence of other myasthenic forms.
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PMID:An atypical course of myasthenia gravis. 1860 52

A 67-year-old man was admitted with a 2-year history of dropped head. Neurological examination revealed ptosis, dysarthria, neck weakness, hyporeflexia of all limbs, and autonomic failure. Electrophysiologic study showed a 400% increment response to high-rate repetitive nerve stimulation. Serum anti-P/Q-voltage-gated calcium channel antibody was positive, confirming the diagnosis of Lambert-Eaton myasthenic syndrome (LEMS). His symptoms and electrophysiological abnormalities improved with oral prednisolone following plasmapheresis. This is the first report of LEMS as a cause of dropped head syndrome.
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PMID:"Dropped head syndrome" caused by Lambert-Eaton myasthenic syndrome. 1953 55

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient's best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient's final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy.
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PMID:A case of myotonic dystrophy with pigmentary retinal changes. 1956 64

A 77-year-old man non-immunized to tetanus suffered head trauma on the right side when he tumbled from a height of approximately 2m. Five days later, he experienced difficulty in opening his mouth and developed right ptosis. He was referred to our hospital 2 days post-ictus. The patient suffered trismus, and developed right Horner's syndrome with in a week. Symptoms due to multiple cranial nerve palsies were observed: right inferior oblique muscle weakness, reduced right corneal reflex, right facial palsy, dysphagia, and abnormal tongue movements. Neuroimages (computed tomography, magnetic resonance imaging, and angiography) of the basal skull and internal carotid arteries revealed no abnormalities. From the symptoms associated with his infected head wound and clinical follow-up, we suggested that he had cephalic tetanus. We subsequently conducted the following treatments: debridement of the wound, intravenous infusion of antitetanus human immunoglobulin (AHI), intrathecal AHI infusion, and systemic administration of benzylpenicillin. His condition improved with these treatments, and without any complications such as autonomic nervous system dysfunction or classical tetanic spasms. This case suggests that we should consider the possibility of cephalic tetanus when we observe a patient with cranial nerve palsy associated with injury.
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PMID:[Dysfunction of multiple cranial nerves in cephalic tetanus--case report]. 1969 89

We report the case of a 50-year-old man with paraneoplastic cerebellar degeneration (PCD) and Lambert-Eaton myasthenic syndrome (LEMS) associated with primary double lung cancer. He developed acute progressive double vision, slurred speech, and gait disturbance. Neurological examination revealed diplopia, mild ptosis, bilateral horizontal gaze-evoked nystagmus, and cerebellar limb and truncal ataxia. The diffusion image of brain magnetic resonance imaging (MRI) revealed no abnormal findings in the cerebellum. On the basis of the diagnosis of acute cerebelitis, he was given methylprednisolone pulse therapy followed by oral prednisolone, which gradually improved his neurological signs and symptoms. The analysis of the possible etiology suggested that the PCD was induced by lung cancer, which led to ataxia. A chest computed tomography scan revealed mass lesions of irregular shape and unclear margins in the upper lobe of the right lung and a small nodule tumor in the upper lobe of the left lung. We performed transbronchial needle aspiration and detected the bronchioloalveolar carcinoma of the right lung. An electromyogram showed waxing phenomenon in the ulnar nerve at high-frequency (50Hz) stimulation. The serum levels of anti-P/Q-type voltage-gated calcium channel (VGCC) antibody were elavated in the patient. These findings confirmed that the pathogenesis of the condition of this patient to be associated with LEMS. His cerebellar symptoms were considered to be caused by the PCD, and the diplopia, ptosis, and hyporeflexia were attributed to LEMS. We performed upper left lobectomy with mediastinal lymphnode dissection via video-assisted thoracoscopic surgery. A histological study detected small cell carcinoma. A diagnosis of double primary lung cancer was made. Physicians need to be aware that patients may develop PCD and LEMS associated with anti-VGCC antibody caused by small cell lung cancer, and a mass survey should be conducted and careful examinations performed.
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PMID:[Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome associated with anti P/Q-type voltage-gated calcium channel antibody in a patient with primary double lung cancer]. 1980 9

Iatrogenic Horner syndrome is a rare complication of chest tube insertion, with little information available on this topic in the pediatric literature. We present a case of a 13-month-old boy with a left-sided pneumonia and an associated pleural effusion for which a chest tube was inserted. His respiratory and septic parameters improved, but he was noted to have ptosis, miosis, and anhydrosis of the left side. These resolved in the days after chest tube removal. Although tube thoracostomy is a common procedure in surgical practice, little is written about the potential for injury to the ipsilateral sympathetic chain. This report reviews the available literature, with an emphasis on complication avoidance.
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PMID:Iatrogenic Horner syndrome after tube thoracostomy. 1985 64

A 58-year-old man complaining of increasing weakness of muscular leg strength, diplopia and ptosis was admitted to our hospital. An electromyogram (EMG) showed typical waxing phenomenon in response to high-frequency repetitive stimulation. A diagnosis of Lambert-Eaton myasthenic syndrome (LEMS) was made from his symptoms and EMG results. A chest CT showed mediastinal lymph node swelling. No abnormal mass was seen in either lung field. His serum levels of a P/Q-type anti-voltage-gated calcium channel (VGCC) antibody, Pro-GRP, and NSE were high. FDG-PET showed accumulation of FDG to the mediastinal and left inguinal lymph nodes. The left inguinal lymphadenopathy was pathologically diagnosed as metastasis of small cell lung carcinoma. No tumor could be detected by bronchofiberscopy. No other distant metastasis was detected by brain MRI, abdominal CT, or FDG-PET. After 6 courses of chemotherapy for SCLC, a partial response and reduction of symptoms were obtained. For assessment of indistinguishable neuropathic symptoms, the possible diagnosis of paraneoplastic syndrome, such as LEMS, and the fact that early treatment for primary disease was effective, should be considered.
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PMID:[A case of small cell lung carcinoma without apparent primary lesion accompanying Lambert-Eaton myasthenic syndrome]. 2005 96

A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.
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PMID:Vanishing white matter disease associated with ptosis and myoclonic seizures. 2111 45

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease in which neuromuscular structures, endocrine glands, and cardiac conduction systems are most commonly involved. An 11-year-old boy was admitted with blurred consciousness, respiratory instability, and bradycardia of two-hour onset. He was immediately intubated. His medical history included growth retardation and myopic refractive defect for six years, therapy for somatomedin C deficiency for 15 months, and bilateral ptosis for three months. On physical examination, he was unconscious, had a peak heart rate of 40/min, blood pressure of 60/20 mmHg, and a weak pulse. Laboratory findings showed elevated blood lactate and blood pyruvate levels and an increased lactate/pyruvate ratio. The electrocardiogram showed complete atrioventricular block and echocardiography showed mitral valve prolapse. Following implantation of a temporary transvenous cardiac pacemaker, his heart rate and clinical condition improved. Further analysis with cranial magnetic resonance (MR) imaging demonstrated hyperintense signal changes in the subcortical white matter of the two cerebral hemispheres, bilateral thalamus, putamen, cerebral peduncles, dorsal medulla, and midbrain. The typical clinical and MR findings confirmed the initial diagnosis of KSS. A permanent cardiac pacemaker was implanted into the right ventricle.
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PMID:Kearns-Sayre syndrome presenting as somatomedin C deficiency and complete heart block. 2124 59


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