Muscle weakness in an adult with infantile x-linked hypogammaglobulinemia. Part one.
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Biomedical subjects
Publications and source records attributed to A Montanaro.
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Subjects with primary immunodeficiency received modified immune serum globulin (IGIV) intravenously at various dose levels in long-term therapeutic studies. Therapy was effective and essentially free from adverse reactions. Two pertinent observations were made relating to the attained levels of serum IGG. Over a dose range of 100-225 mg/kg, the serum IgG level directly reflects the dosage administered. Sequential analysis of serum levels of IgG demonstrated three patient populations in 14 subjects receiving 150 mg/kg. The largest group, nine patients, had progressive reduction of serum IgG values compatible with the half-life of the reagent, with a return to the original serum IgG level in four weeks. A second population of four patients had a slower reduction of serum IgG over the four-week period. IgG values were significantly elevated over baseline values at the time of the next due infusion. In one subject serum IgG values varied greatly with rapid drops and elevations unrelated to the infusion.
In vitro in vivo reproterol showed intense spasmolytic effects upon the trachea and bronchi against various spasm-including agents (histamine, acetylcholine, acetyl-beta-methylcholine, 5-hydroxytryptamine, BaCl2). A comparative study with various drug used in the treatment of asthma (isoprenaline, metaproterenol, salbutamol, clenbuterol, papaverine and atropine) has been conducted.
In the rat, narcotic doses of Althesin injected intraperitoneally did not modify blood glucose concentration nor plasma insulin concentration. On the contrary a reduction of blood glucose concentration, associated with an increase of plasma insulin concentration was observed when narcotic doses of thiopental and ketamine were. Plasma renin concentration decreased after injection of Althesin and thiopental while increased after injection of ketamine.
Cross-sectional studies of the lumbar spinal canal were performed by computerised tomography in asymptomatic subjects and in patients with myelographic and clinical findings suggestive of lumbar stenosis. In most cases stenosis was found to be developmental or combined in nature. Computerised tomography is a useful adjunct to myelography in the evaluation of lumbar stenosis as it enables an accurate assessment to be made of the type, degree and extent of narrowing of the vertebral canal.
A tuberculous epidural granuloma was encountered in a 43-year-old man with a typical syndrome of lumbar disk herniation. Roentgenograms of the spine revealed only an anterior bony bridge between the vertebral bodies of L4 and L5, and a narrowing of the fourth intervetebral space. Myelogram showed a complete block of the dural sac, which appeared to be caused by an extradural mass located at the level of the L4-L5 disk. At operation granulomatous tissue was found in the anterior epidural space and the fourth intervertebral disk. On the basis of the radiographic and surgical findings, it is reasonable to assume that the infection spread to the epidural space from an inapparent vertebral focus either directly or by way of the intervertebral disk.
After operations for prolapsed lumbar disc, the authors recommend early resumption of the erect posture combined with a programme of re-education. This is started during the first days after the operation and continued for three months. In most cases it assists the rapid recovery of spinal function. The best results are obtained in patients in whom the operation completely relieves the nerve root symptoms. The programme of re-education, begun early, presents no problems if excessive strain on the lumbar spine is avoided during the first seven to nine days after operation.
A 61-year-old woman with malignant lymphoma, histiocytic type, with slerosis (sclerosing reticulum cell sarcoma) primary in the spleen is described. She has survived clinically free of malignant lymphoma for 11 years after splenectomy therapy alone. This may be the first case of primary splenic malignant lymphoma, histiocytic type, with sclerosis, ever reported in the medical literature.
We evaluated the outcome of radioiodine (RAI) therapy in 100 consecutive patients treated in the period 2000-2001 for hyperthyroidism due to Graves' disease (GD), toxic adenoma (TA) and toxic multinodular goiter (TMG). Thyroid function was measured before and after therapy every 3-6 months up to 3 yr. Three years after therapy, 75% of TA patients were euthyroid, 18.7% were hypothyroid and 6.3% hyperthyroid. Of the TMG patients, 62.2% were euthyroid, 18.9% were hypothyroid and 18.9% hyperthyroid. In GD patients euthyroidism was achieved in 12.9% of the patients, hypothyroidism in 74.2% and hyperthyroidism persisted in 12.9%. Definitive hypothyroidism was significantly higher in GD (p<0.0001) than in TA and TMG patients. Overall, positive effect of RAI (definitive hypothyroidism or euthyroidism) was very high: 93.7% in TA, 81.1% in TMG and 87.1% in GD patients. Thyroid volume reduction was observed in all patients, but was higher in GD patients (mean reduction of 76%) and in TA patients (mean nodule reduction of 69%). In TMG, mean reduction was of 32%. The median activity of RAI received by the 86 cured patients was 555 MBq (15 mCi) compared to 407 Mbq (11 mCi) received by the 14 patients who remained hyperthyroid. No influence was found between outcome and clinical parameters at the moment of 131-I therapy. In conclusion, our results indicate that RAI therapy is highly effective and safe for the control of hyperthyroidism.
Acute anterior uveitis is a common ocular disease characterized by inflammation of the iris and ciliary body. In the majority of patients presenting with an acute attack of anterior uveitis, the only clues to the pathogenesis of this disease are its close association with the genetic marker HLA-B27 and the likely triggering role of a variety of gram negative bacteria. HLA-B27 acute anterior uveitis appears to be a distinct clinical entity frequently associated with the seronegative arthropathies, such as ankylosing spondylitis and Reiter's syndrome. Recent advances in our understanding of the structure and function of class I HLA molecules have revealed their fundamental function in antigen presentation and this has led to a reevaluation of their role in disease predisposition.
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Biopsy specimens of the spine, including intervertebral disc, vertebral plate, growth plate, and part of the vertebral body, were obtained from seven patients with juvenile kyphosis treated by anterior spinal arthrodesis. Histological and histochemical studies showed abnormal loose-appearing cartilage in both the vertebral plate and the growth plate. Both plates were missing in some vertebrae. Ultrastructurally the abnormal cartilage had a matrix rich in proteoglycans and very thin collagen fibrils. The mineralization and ossification of the vertebral plates were irregular. Vertebral bone growth was stunted under the areas of abnormal growth plates.
The pathogenesis of anterior ischemic optic neuropathy (AION) primarily involves interference with the posterior ciliary artery blood supply to the prelaminar optic nerve. Uremic patients often have coexisting pathology such as hypotension (decreased blood delivery), or hypertension, atherosclerosis (increased resistance to blood supply), and anemia (low blood oxygen carrying capacity), predisposing them to AION. We describe a 49-year-old patient on dialysis for many years. He had long-standing hypotension, worsened during each dialysis treatment. He awoke one morning at age 48 complaining of blurred vision in the left inferior field. Based on the clinical course, funduscopic and fluorangiographic examination and visual field defects, AION was diagnosed. Nine months after the loss of vision in the left eye, vision in the right eye became blurred and worsened over the next 24 hours. The diagnosis of AION in the right eye was made. At the last examination ten months later, the patient, still amaurotic, was given a very poor prognosis for further recovery of the visual defects. Surprisingly, very few cases of AION have been reported in chronic uremic patients on dialysis: to the best of our knowledge, only 12 including ours. Most of these cases share some features, including hypotension above all and anemia as common risk factors. Neither the type of dialysis treatment (hemo-, peritoneal dialysis) nor sex seem to have any influence on the occurrence of AION. Uremic children can be affected. What is striking in the three published pediatric cases is that they all had polycystic kidney disease. Treatment of AION in all 12 cases consisted of a combination of steroids, i.v. saline, blood transfusions and rhEpo. AION was more frequently bilateral and irreversible, ending in permanent amaurosis. In conclusion, this study aims to stress that most cases of AION occurring in chronic uremic patients on dialysis have some common features, including hypotension above all and anemia as common risk factors.
Acute tumor lysis syndrome (TLS) is a catastrophic complication of the treatment of certain neoplastic disorders. It most commonly occurs in association with hematologic malignancies and manifests a few hours to a few days after initiation of specific chemotherapy. Acute spontaneous TLS has been described in leukemia and lymphoma and in some patients with solid tumors prior to institution of therapy. The findings that may be seen in acute TLS include hyperphosphatemia, hypocalcemia, hyperuricemia, hyperkalemia, and acute oliguric or anuric renal failure due to uric acid precipitation within the tubules (acute uric acid nephropathy) and to calcium phosphate deposition in the renal parenchyma and vessels. We report here a case of acute spontaneous TLS (high grade B-cell lymphoma of the right colon) in which serum uric acid concentration attained exceptionally high levels (36.7 mg/dL). The patient underwent acute oliguric renal failure soon after right colectomy. He was treated by means of a large infusion of saline. The renal function recovered in such a rapid way that no dialysis treatment was required. In conclusion the present case report has two peculiarities: that of being one of the rare examples of spontaneous TLS, and that of showing an exceptionally severe hyperuricemia, probably the highest ever reported in the literature. The administration of a large volume of saline was able to ensure a complete recovery of renal function. Therefore, hydration with saline remains the keystone in the prevention and treatment of acute TLS.
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