1/16. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivefold CK elevation, a 25% decrement with myopathic motor unit potentials and increased electrical irritability on electromyography, and no anti-acetylcholine receptor (AChR) antibodies. plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Morphologic studies revealed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities: large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, thick-filament loss, vacuolar change, and pathologic alterations in membranous organelles. Many endplates (EPs) had an abnormal configuration with chains of small regions over the fiber surface and a few displayed focal degeneration of the junctional folds. The EP AChR content was normal. in vitro electrophysiologic studies showed normal quantal release by nerve impulse, small miniature EP potentials, and fetal as well as adult AChR channels at the EP. Our findings support the notion that plectin is essential for the structural integrity of muscle and skin, and for normal neuromuscular transmission.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
2/16. Treatment guidelines for botulinum toxin type A for the periocular region and a report on partial upper lip ptosis following injections to the lateral canthal rhytids.Inactivation of the orbicularis oculi muscle by chemodenervation with botulinum toxin type A (Botox, Allergan, Inc., Irvine, Calif.) as a sole procedure or in conjunction with blepharoplasty has proved to be a reliable method to improve the appearance of the periocular area. Botox has the unique and ideal characteristic in that, with repeated use, there is potential for a prolonged clinical effect with smaller dosages. In addition, if a complication does arise--while not aesthetically acceptable and potentially untoward--it is time-limited, and the anatomical area will eventually return to its pretreatment baseline status. In this study, in three cases [in more than 1000 crow's feet treatment sessions (2000 sides)] over the course of 1 year, partial lip ptosis resulting from weakening of the zygomaticus major muscle after the injection of Botox into the periocular region are reported. This article reviews suggested treatment guidelines and anatomic considerations for the periocular region to maintain injection standardization and improve the safety profile of Botox as the aesthetic indications for its use expand and the number of individuals who inject it increases.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
3/16. Use of recombinant human thyrotropin in a complicated case of metastatic papillary thyroid carcinoma.OBJECTIVE: To describe a complicated case of metastatic papillary thyroid carcinoma and the use of recombinant human thyrotropin (thyroid-stimulating hormone) (rhTSH) in conjunction with treatment with radioactive iodine (131I). methods: We present a detailed case report and discuss the use of rhTSH in this setting. RESULTS: A 62-year-old Filipino man with a history of incompletely treated papillary thyroid cancer sought medical assistance in the emergency department because of weakness of the right upper extremity. Imaging studies showed a large mediastinal mass in association with C7 vertebral body erosion and spinal cord impingement. A cervical lymph node biopsy revealed papillary thyroid carcinoma, follicular variant. Further imaging studies disclosed widely metastatic disease. The patient subsequently had a complicated treatment course and received rhTSH in conjunction with 131I treatment. CONCLUSION: This unusual case demonstrates possible complications of metastatic papillary thyroid carcinoma along with innovations in treatment options, including the use of rhTSH to stimulate the uptake of radioiodine by thyroid cancer cells.- - - - - - - - - - ranking = 2keywords = junction (Clic here for more details about this article) |
4/16. myasthenia gravis in conjunction with Graves' disease: a diagnostic challenge.OBJECTIVE: To describe an association between Graves' disease and myasthenia gravis and discuss the clinical features and laboratory tests that may help distinguish these two diseases. methods: The clinical, laboratory, and electrophysiologic findings in a patient with Graves' disease and myasthenia gravis are presented. RESULTS: A 28-year-old African American man was admitted to the University of Louisville Hospital with generalized muscle weakness, exophthalmos, diplopia, weight loss, and mild dysphagia. The diagnosis of Graves' disease with ophthalmologic involvement was suspected clinically and confirmed by an undetectable thyrotropin level (<0.03 mIU/mL), high total thyroxine (20.5 mg/dL), and increased homogeneous 123I thyroid uptake. Because of the generalized muscle weakness and mild dysphagia, assessment was done by a neurology team, and severe thyrotoxic myopathy was diagnosed. He was treated with 131I and b-adrenergic blocking agents and scheduled for follow-up as an outpatient. Two weeks later, the patient presented in acute respiratory failure. The neurology team was reconsulted because of suspected myasthenic crisis. Anti-acetylcholine receptor antibodies were undetectable in the serum, and computed tomography of the chest showed no thymic enlargement. Repetitive nerve stimulation testing, however, showed findings consistent with an abnormality of the neuromuscular junction. The patient responded dramatically to an anticholinesterase agent and corticosteroids. CONCLUSION: The overlapping clinical features may cause diagnostic confusion when myasthenia gravis and Graves' disease coexist, and numerous tests may be needed to distinguish these two conditions, which have differing treatments and prognoses.- - - - - - - - - - ranking = 1850.1080400526keywords = neuromuscular junction, junction (Clic here for more details about this article) |
5/16. Tertiary hyperparathyroidism after high-dose phosphate therapy in adult-onset hypophosphatemic osteomalacia.OBJECTIVE: To describe a case of adult-onset hypophosphatemic osteomalacia treated with orally administered phosphate and complicated by tertiary hyperparathyroidism. methods: We present pertinent clinical, radiologic, and laboratory details of the study patient for a period of more than 20 years and discuss the few reported cases of tertiary hyperparathyroidism attributable to prolonged phosphate therapy. RESULTS: A 49-year-old Jordanian man, who had been diagnosed at age 26 years as having sporadic adult-onset hypophosphatemic vitamin d-resistant osteomalacia, presented with severe right hip pain, severe osteopenia with lytic bone lesions, and hypercalcemia after prolonged oral treatment with phosphate and vitamin d. These clinical, radiologic, and biochemical findings, in conjunction with a very high serum parathyroid hormone level, indicated the diagnosis of tertiary hyperparathyroidism, which was substantiated histopathologically. CONCLUSION: physicians should be aware of the potential for development of tertiary hyperparathyroidism in patients receiving prolonged oral phosphate therapy.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
6/16. Detection of dna mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer.BACKGROUND: Molecular analysis of mitochondrial dna (mtDNA) has provided a final diagnosis for many of the mitochondrial diseases. We evaluated the Agilent 2100 bioanalyzer (Agilent Technologies, Palo Alto, CA) to determine whether the system could replace the conventional restriction fragment length polymorphism (RFLP) analysis by the agarose gel electrophoresis for the detection of the mtDNA mutation. methods: Three members of a family with melas syndrome and four members of a family with merrf syndrome were recruited for this study. After PCR and restriction enzyme digestion, dna fragments were separated on the Agilent 2100 bioanalyzer in conjunction with the dna 500 and dna 1000 Labchip kits and by electrophoresis on precast 3% agarose gels. RESULTS: The data generated by the dna 500 and dna 1000 assays using the Agilent 2100 bioanalyzer showed a lower percentage error and a better reproducibility as compared to those obtained by the conventional method. CONCLUSION: Based on the performance of the bioanalyzer, we suggest that this novel Labchip is adequate to replace the current RFLP analysis by the agarose gel electrophoresis for mtDNA mutation detection.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
7/16. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked charcot-marie-tooth disease.OBJECTIVES: To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked charcot-marie-tooth disease (CMTX) patients. MATERIAL AND methods: We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS: One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. CONCLUSION: These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.- - - - - - - - - - ranking = 4keywords = junction (Clic here for more details about this article) |
8/16. Cardioactive steroid poisoning from an herbal cleansing preparation.We describe a case of unintentional poisoning from a cardioactive steroid and the subsequent analytic investigation. A 36-year-old woman with no past medical history and taking no conventional medications ingested an herbal preparation marketed for "internal cleansing." Its ingredients were neither known to the patient nor listed on the accompanying literature. The next morning, nausea, vomiting, and weakness developed. In the emergency department, her blood pressure was 110/60 mm Hg, and her pulse rate was 30 beats/min. Her ECG revealed a junctional rhythm at a rate of 30 beats/min and a digitalis effect on the ST segments. After empiric therapy with 10 vials of digoxin-specific Fab (Digibind), her symptoms resolved, and she reverted to a sinus rhythm at a rate of 68 beats/min. Her serum digoxin concentration measured by means of the fluorescence polarization immunoassay (Abbott TDx) was 1.7 ng/mL. Further serum analysis with the Tina Quant digoxin assay, a more digoxin-specific immunoassay, found a concentration of 0.34 ng/mL, and an enzyme immunoassay for digitoxin revealed a concentration of 20 ng/mL (therapeutic range 10 to 30 ng/mL). serum analysis by means of high-performance liquid chromatography revealed the presence of active digitoxin metabolites; the parent compound was not present. When the diagnosis of cardioactive steroid poisoning is suspected clinically, laboratory analysis can confirm the presence of cardioactive steroids by using immunoassays of varying specificity. An empiric dose of 10 vials of digoxin-specific Fab might be beneficial in patients poisoned with an unknown cardioactive steroid.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
9/16. Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion.A remarkable, intermittent sudden-onset vigilance and movement disorder in an exclusively breast-fed infant is reported, which was caused by cobalamin depletion due to maternal vitamin B12 malabsorption. The lack of cobalamin caused a severe encephalopathy in the infant, whose brain displayed a striking loss of volume and a delay of myelination. Proton magnetic resonance spectroscopy revealed an accumulation of lactate in the gray and white matter of the brain and a sustained depletion of choline-containing compounds in the white matter, reflecting a reversible disturbance of oxidative energy metabolism in brain cells and a long-lasting hypomyelination disorder. The clinical picture in conjunction with MRI and spectroscopic data of this case study yields more insight into the functions of cobalamin in the cerebral metabolism.- - - - - - - - - - ranking = 1keywords = junction (Clic here for more details about this article) |
10/16. Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma.STUDY DESIGN: A case study with review of surgical technique in craniovertebral stabilization for young children with mucopolysaccharidosis. OBJECTIVES: To describe an interesting patient with a rare metabolic disorder and review surgical technique for craniovertebral instability in this rare patient population. SUMMARY OF BACKGROUND DATA: Craniovertebral instability has been reported in patients with mucopolysaccharidosis and poses a problem for spinal surgery because of the inherent metabolic disorder and age at presentation. We present the first case of craniovertebral instability and spinal cord compression occurring in Sly syndrome (mucopolysaccharidosis type VII) who is the youngest patient afflicted with this metabolic disorder to undergo craniovertebral stabilization. methods: A 17-month-old boy presented with inability to support his head, decreasing muscle strength in all extremities, distended abdomen, and shortness of breath. The patient was found to have a dilated cardiomyopathy, hepatosplenomegaly, abnormal hepatobiliary function, corneal clouding, and a questionable tracheal anomaly. genetic testing provided a diagnosis of Sly syndrome, mucopolysaccharidosis type VII. magnetic resonance imaging revealed focal stenosis with significant spinal cord compression at the craniovertebral junction. neurologic examination revealed normal muscle volume with strength 3/5 in all extremities and significant weakness in the neck muscles with instability at the craniovertebral junction. RESULTS: On a concerted preoperative medical clearance by pediatric intensive care, pediatric neuroanesthesia, pediatric cardiology, pediatric gastroenterology, and pediatric neurosurgery, the patient underwent occipital to C3 decompression and fusion with autogenous rib grafts. The patient was placed in a prefitted halo-vest after surgery and was neurologically intact. CONCLUSIONS: This case demonstrates the heterogeneity of cervical spine deformities among the mucopolysaccharidosis syndromes and confirms the propensity for deposition of glycosaminoglycans at the craniovertebral junction. Further studies should investigate the etiology for this propensity of glycosaminoglycan deposition at the craniovertebral junction. We think that this case demonstrates that, with appropriate preoperative planning, these patients can undergo successful posterior cervical arthrodesis despite their age or metabolic defects.- - - - - - - - - - ranking = 4keywords = junction (Clic here for more details about this article) |
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