Diseases of the peripheral nervous system are one of the most difficult subjects in neurology partly in that specific etiologies are often not found. Among peripheral neuropathies of unknown causes, an association of monoclonal gammopathies has been observed. Monoclonal gammopathies are disorders characterized by proliferation of a single clone of plasma cell that produces monoclonal proteins. Here we report two cases of chronic sensorimotor polyneuropathy with monoclonal gummopathy of undetermined significance, who showed no evidences of multiple myeloma, macroglobulinemia, systemic amyloidosis, or other neoplasms. One case is also associated with hyperthyroidism and cryoglobulinemia.
Amyloidosis ; Clone Cells ; Cryoglobulinemia ; Hyperthyroidism ; Monoclonal Gammopathy of Undetermined Significance* ; Multiple Myeloma ; Neurology ; Paraproteinemias* ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Plasma Cells ; Polyneuropathies* ; Waldenstrom Macroglobulinemia

BACKGROUND: Plasma cell neoplasm is diagnosed by performing bone marrow examination, serum- and urine-protein electrophoresis, and quantification of free light chains of immunoglobulins. We characterized and quantified monoclonal proteins typical of different diagnosed conditions to determine the best screening test(s). METHODS: We retrospectively reviewed diagnosis of and the characteristics of monoclonal proteins from 113 patients with monoclonal gammopathy. Monoclonal proteins were detected by agarose-gel electrophoresis and capillary electrophoresis, and if the results were ambiguous, they were confirmed by immunofixation electrophoresis. Free light chains were measured using nephelometry. RESULTS: The concentrations of monoclonal proteins in 113 patients with different conditions were as follows: multiple myeloma (MM) (67%), 2.66 (0.87-9.48) g/dL; monoclonal gammopathy of undetermined significance (MGUS) (26%), 0.62 (0.08-2.95) g/dL; lymphoma (3%), 3.65 (1.59-6.54) g/dL; Waldenstrom's macroglobulinemia (2%), 1.99 (1.08-2.90) g/dL; amyloidosis (2%), 0.61 g/dL; and POEMS syndrome (1%), 0.99 g/dL. There was a significant difference in the concentration and kappa/lambda ratio (which was based on the immunetype of the monoclonal proteins) of the monoclonal proteins in patients with MM and MGUS (P<0.001 and P=0.004, respectively). The diagnostic sensitivity of serum-protein electrophoresis, free-light-chain assay, and bone marrow analysis was 87.6%, 84.1%, and 84.5%, respectively. The sensitivity of a combination of 2 or 3 of these tests was higher at 100%. CONCLUSIONS: A combination of protein electrophoresis with immunotyping and serum free-light-chain assay may be the best screening method for detecting monoclonal proteins since its non-invasiveness.
Amyloidosis ; Bone Marrow ; Bone Marrow Examination ; Electrophoresis ; Electrophoresis, Capillary ; Humans ; Immunoglobulins ; Light ; Lymphoma ; Mass Screening ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Neoplasms, Plasma Cell ; Paraproteinemias ; Plasma ; Plasma Cells ; POEMS Syndrome ; Proteins ; Retrospective Studies ; Waldenstrom Macroglobulinemia

No abstract available.
Cryoglobulinemia* ; Gangrene* ; Monoclonal Gammopathy of Undetermined Significance* ; Paraproteinemias*

No abstract available.
Leukemia, Biphenotypic, Acute ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Paraproteinemias ; Thrombocythemia, Essential

OBJECTIVE: To investigate several abnormal genes by the fluorescence in situ hybridization (FISH) in multiple myeloma (MM), monoclonal gammopathy of undetermined significance (MGUS) and reactive plasmacytosis (RP), and to increase the diagnosis and differential diagnosis levels for these common plasma diseases. 
 METHODS: The clinical manifestations, image and laboratory tests and the FISH detection were retrospectively analyzed in 61 cases of newly diagnosed MM, 20 cases of MGUS and 20 cases of RP from August, 2012 to February, 2015 in the Xiangya Hospital of Central South University. 
 RESULTS: Fifty cases among 61 MM patients showed genetic abnormality by FISH technology. The total positive rate was 81.9%. Among them, 19 cases (31.1%) had 1q21 amplification, 18 cases (29.5%) lacked D13S319, 10 cases (16.4%) missed RB1, 10 cases (16.4%) had IGH translocation and 7 cases (11.4%) lacked p53 gene. The positive rate for two or more genes abnormal was 19.8% in 12 cases. However, in 20 cases of MGUS patients, the positive detection rate was 25%, including 4 cases (20%) of 1q21 augmentation and 2 cases (10%) of IGH translocation. There were not two or more abnormal genes in one case. While in RP cases, only 1 case of patients had D13S319 abnormal gene, and the positive rate was only 5%. There was significant difference (P<0.05) among the 3 groups. 
 CONCLUSION The positive detection rate is 81.9% in MM patients by FISH, which is significantly higher than that in patients with MGUS or RP. FISH technology can detect a variety of abnormal genes in MM. It is useful for the differential diagnosis and prognosis for MM, MGUS and RP.
Humans ; In Situ Hybridization, Fluorescence ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Paraproteinemias ; Retrospective Studies ; Translocation, Genetic

Monoclonal gammopathies are associated with a wide range of renal diseases, including cast nephropathy, light chain amyloidosis, monoclonal immunoglobulin deposition diseases, and so on. We describe seven cases of monoclonal gammopathies involving kidney. The mean age was 61.6+/-3.6 years and male to female ratio was 1:1.3. Among 7 patients, diagnoses were cast nephropathy with light chain deposition disease, two light chain deposition diseases, three light chain amyloidosis and light chain deposition disease with light chain amyloidosis. Two cases were monoclonal gammopathy of undetermined significance and three cases were multiple myeloma in five cases underwent bone marrow biopsy. It showed that renal function was severly decreased in light chain deposition disease. It is clear that monoclonal gammopathies show various renal disease and clinical course in our cases. It is necessary to do renal biospy for adequate diagnosis and treatment even to old patients suspecting monoclonal gammopathy.
Amyloidosis ; Biopsy ; Bone Marrow ; Diagnosis ; Female ; Humans ; Immunoglobulins ; Kidney* ; Male ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Paraproteinemias*

PURPOSE: To report a case of central retinal artery obstruction (CRAO) caused by protein S deficiency. CASE SUMMARY: A 36-year-old man presented with acutely reduced visual acuity in the right eye. The patient had no other diseases such as diabetes mellitus or hypertension. The visual acuity was 20/20 in the right eye and light perception in the left eye. Afferent pupillary defect was observed in theleft eye. Fundus examination showed diffuse retinal opacification and a cherry-red spot at the macula. Thus the patient was diagnosed with CRAO in the left eye. There were no abnormal findings on routine hematologic tests including blood coagulation test. Protein C activity, antithrombin III activation, anticardiolipin antibody were within normal limits but protein S activity was decreased. Thus, the patient was diagnosed with CRAO with protein S deficiency. CONCLUSIONS: Coagulation factors such as protein S need to be measuredin cases of CRAO in young patients without medical problems.
Adult ; Antibodies, Anticardiolipin ; Antithrombin III ; Blood Coagulation Factors ; Blood Coagulation Tests ; Diabetes Mellitus ; Eye ; Hematologic Tests ; Humans ; Hypertension ; Light ; Protein C ; Protein S ; Protein S Deficiency ; Pupil Disorders ; Retinal Artery ; Retinaldehyde ; Visual Acuity

PURPOSE: To report a case of central retinal artery obstruction (CRAO) caused by protein S deficiency. CASE SUMMARY: A 36-year-old man presented with acutely reduced visual acuity in the right eye. The patient had no other diseases such as diabetes mellitus or hypertension. The visual acuity was 20/20 in the right eye and light perception in the left eye. Afferent pupillary defect was observed in theleft eye. Fundus examination showed diffuse retinal opacification and a cherry-red spot at the macula. Thus the patient was diagnosed with CRAO in the left eye. There were no abnormal findings on routine hematologic tests including blood coagulation test. Protein C activity, antithrombin III activation, anticardiolipin antibody were within normal limits but protein S activity was decreased. Thus, the patient was diagnosed with CRAO with protein S deficiency. CONCLUSIONS: Coagulation factors such as protein S need to be measuredin cases of CRAO in young patients without medical problems.
Adult ; Antibodies, Anticardiolipin ; Antithrombin III ; Blood Coagulation Factors ; Blood Coagulation Tests ; Diabetes Mellitus ; Eye ; Hematologic Tests ; Humans ; Hypertension ; Light ; Protein C ; Protein S ; Protein S Deficiency ; Pupil Disorders ; Retinal Artery ; Retinaldehyde ; Visual Acuity

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or difficulty in revealing the direct cause. On the other hand, dysphagia can be a meaningful clinical sign of premalignant systemic disease. A 78-year-old man, without any prior medical or family history, was admitted with the chief complaint of dysphagia with recent aspiration pneumonia. Instrumental swallowing tests revealed a severe degree of dysphagia due to decreased laryngopharyngeal sensation and weakness of the pharyngeal constrictor muscles. Extensive workup, including electromyography and laboratory tests, revealed severe sensorimotor peripheral polyneuropathy related to monoclonal gammopathy. Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma, which is characterized by the proliferation of monoclonal proteins. These conditions are often associated with peripheral polyneuropathy, ataxia, and sometimes even muscle weakness. Although dysphagia can occur in other systemic disorders, such as vasculitis or paraneoplastic syndrome-related malignancies, there are few reports of dysphagia related to MGUS. The patient was followed up for three years. The MGUS showed no further progression, but the patient showed no improvement, indicating a protracted clinical course and poor prognosis when dysphagia is related to MGUS.
Aged ; Ataxia ; Deglutition ; Deglutition Disorders ; Diagnosis ; Electromyography ; Hand ; Humans ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Muscle Weakness ; Muscles ; Paraproteinemias ; Pneumonia, Aspiration ; Polyneuropathies ; Prognosis ; Sensation ; Vasculitis

No abstract available.
Monoclonal Gammopathy of Undetermined Significance* ; Paraproteinemias* ; Vasculitis