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Biomedical subjects

M Boxer

Publications and source records attributed to M Boxer.

45 records · Page 3Linked to original sources
PubMed1991

Marfan syndrome affecting four generations of a family without ocular involvement.

Thirty eight relatives of a patient with Marfan syndrome were screened for the presence of this disorder. Marfan syndrome was newly diagnosed in living members of 4 generations in this family without evidence of ocular abnormality in any. After screening, 10 relatives were newly diagnosed as having definite, and 5 relatives as having possible, Marfan syndrome. Family screening has drawbacks as well as benefits for the patients. The main benefit is the identification and treatment of previously undiagnosed patients at risk of cardiac complications which are the major cause of mortality. The drawbacks include employment problems created for patients with Marfan syndrome as a direct consequence of our screening programme and the anxiety induced in previously asymptomatic family members who did not realize that they could be at risk. Also, the 4 adult patients with possible Marfan syndrome found it difficult to accept that a definite diagnosis could not be reached after they had been invited to attend a screening programme for a serious genetic disorder. This report illustrates the importance of screening all the relatives of a patient with Marfan syndrome to identify previously undiagnosed cases. However, before screening a family, the physician should be aware that a clear diagnosis may not be reached in all patients, and financial, psychological or social problems may arise as a result of the screening programme.

Adolescent↗
PubMed1989

Prenatal exclusion testing for Huntington's disease: a problem of too much information.

At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father's unaffected father, and his unaffected maternal grandmother was carried out using a battery of polymorphic DNA markers, including a new probe which has a very low recombination rate with the HD locus. Analysis of DNA from a chorionic villus sample taken at 10 weeks of pregnancy showed that the fetus must have inherited a chromosome from its father's affected mother. Its risk of developing HD was 47%. If the genotype of the unaffected maternal grandmother was taken into account, the risk was reduced to 42%. Neither risk was considered acceptable by the prospective parents and the pregnancy was terminated at 12 weeks' gestation. Prospects for future pregnancies are good, with a 50% chance of having a child whose risk of inheriting the HD gene is less than 1.5%. In retrospect it was noted that although genotyping of the maternal grandmother had refined the fetal risk, it had also nearly contributed to an inadvertent and unwanted predictive test for HD on the father. This case makes the point that in prenatal exclusion testing, linkage information must be generated with considerable care.

Adult↗
PubMed1987

Clinical summary and course of idiopathic anaphylaxis in 73 patients.

Seventy-three patients with anaphylaxis of unknown cause were studied. Repeated histories and physical examinations were performed by the Northwestern University (Chicago) allergy service in an attempt to find a cause for the anaphylaxis. Documentation of abnormal physical findings during an episode of anaphylaxis was necessary in each patient. Prior to our initial consultation, these 73 patients had required 115 emergency room visits and 37 hospitalizations. No deaths have occurred in 224 patient years of follow-up from initial presentation. Thirty-eight (52%) patients have infrequent reactions (defined as one episode only or mild episodes less than six times per year) requiring acute treatment alone. Thirty-five (48%) patients have severe or frequent life-threatening reactions (defined as episodes that include syncope, documented hypotension, and airway compromise as major manifestations) requiring maintenance antihistamines and prednisone. Laboratory studies were not helpful in finding a cause of anaphylaxis in any of the 73 patients. Associated atopic conditions were present in 45 patients. Twenty-three patients had chronic idiopathic angioedema, urticaria, or both prior to developing idiopathic anaphylaxis. Sixteen patients only treated acutely for each episode of anaphylaxis and seven patients previously receiving maintenance medication are now asymptomatic without medication for longer than one year.

Adolescent↗
PubMed1985

Plasma fibronectin in systemic lupus erythematosus: relationship to clinical activity, DNA binding and acute phase proteins.

Plasma fibronectin was measured by ELISA in 25 samples from 22 patients with systemic lupus erythematosus (SLE). The mean fibronectin level for the entire patient group (654 micrograms/ml) was greater than that of normal controls (450 micrograms/ml), with highest levels observed in the subgroup of patients with severe disease activity (838 micrograms/ml) followed by those with moderate disease activity (732 micrograms/ml) (p = .04). Fourteen patients with other rheumatic disease had a mean fibronectin level of 407 micrograms/ml. Decreases in fibronectin levels corresponded to clinical improvement and reductions in DNA binding. Although elevated fibronectin levels did not correspond to any specific pattern of organ system involvement, fibronectin levels seem to parallel disease activity in certain patients. Future longitudinal studies of plasma fibronectin in SLE may further define its role as an indicator of disease activity.

Acute-Phase Proteins↗
PubMed1977

Anemia in primary hyperparathyroidism.

Although anemia has not been widely appreciated as a complication of primary hyperparathyroidism, 5.1% of the individuals with this disorder seen at the Massachusetts General Hospital since 1962 had a normochromic, normocytic anemia that could not be related to blood loss,a deficiency state, or uremia. The anemic group had more advanced bone disease and higher levels of serum calcium, alkaline phosphatase, and parathyroid hormone than the nonanemic group. Results of bone marrow biopsies performed in five patients showed variable degrees of myelofibrosis. However, none of the patients had hepatosplenomegaly, a myelophthisic peripheral blood smear, leukopenia, or thrombocytopenia. Removal of the abnormal parathyroid glands led to improvement or correction of the anemia.

Adolescent↗
PubMed1976

Pulmonary hypertension in patients using oral contraceptives. A report of six cases.

Six young women who had taken progestational agents for a period of time ranging from six months to five years developed symptoms and signs of pulmonary hypertension. Cardiac catheterization confirmed the presence of severe pulmonary hypertension without evidence of other cardiac or pulmonary abnormalities to explain this phenomenon. Three of the patients had potential predispositions to pulmonary hypertension, including a corrected patent ductus arteriosus with mild pulmonary hypertension in one, collagen vascular disease in a second, and family history of pulmonary hypertension in a third. Three patients had no known predisposing factors. Although the relationship between oral contraceptives and severe pulmonary hypertension is problematic, there have been isolated reports of cases of pulmonary hypertension secondary to oral contraceptive usage. These cases and the possible pathophysiologic mechanisms responsible are discussed.

Adult↗
PubMedDate not supplied

The lupus anticoagulant.

The clinical and laboratory experience with the lupus anticoagulant was reviewed in 37 patients. The anti-coagulant is thought to act by blocking the activation of prothrombin by the prothrombin activator comlex of factors Xa, V, and phospholipid. Although the anticoagulant has been principally associated with diseases of immune origin, 14 of the present patients had disorders not thought to be immune in nature. Eighteen patients underwent twenty-one operative procedures with only a single episode of excessive bleeding. In the author's experience, the lupus anticoagulant is a rare cause of bleeding.

Blood Coagulation↗