Treatment of antecubital pterygium in the nail-patella syndrome

The effects of an aggressive biting response on stress-induced noradrenaline (NA) release in the rat amygdala and gastric ulcer formation were studied with an intracerebral microdialysis technique. Rats were exposed to a 60-min period of cold restraint stress with or without being allowed to bite a wooden stick. They were sacrificed 100 min after release from stress to investigate gastric ulcer formation. Cold-restraint stress increased NA release to 304 +/- 22.3 and 206 +/- 23.8% of basal levels (mean +/- SEM) in the nonbiting and biting groups, respectively. The stress-induced increases in NA release in the nonbiting group were significantly higher than those in the biting group. In the nonbiting group, significant increases in NA release continued for 80 min after release from stress; however, NA levels in the biting group recovered to basal levels immediately after the cessation of stress. Although many severe gastric lesions with bleeding were found in the nonbiting group, fewer gastric lesions without bleeding were found in the biting group. The cumulative length of gastric lesions in the nonbiting group and in the biting group was 26.2 +/- 7.4 and 6.8 +/- 3.9 mm (mean +/- SEM), respectively. The mean number of ulcers in the nonbiting group and the biting group was 11.8 +/- 1.3 and 1.8 +/- 0.7 (mean +/- SEM), respectively. Both the cumulative length of ulcers and the number of ulcers were significantly lower than those seen in the nonbiting group. These findings strongly suggest that expression of aggression during stress exposure attenuates not only stress-induced increases in NA release in the rat amygdala but also gastric ulcer formation consequent to stress.     

Popliteal pterygium syndrome in a 74-year-old woman

The case of a 74-year-old woman with the rare popliteal pterygium syndrome is presented. This syndrome is inherited as an autosomal dominant trait with incomplete penetrance and varying expression and consists of cleft lip and palate, lip pits, genital anomalies, popliteal pterygium, and malformations of the extremities. The various treatments our patient underwent over the years are reported. Treatment of popliteal pterygium involves special problems whem removing the skin fold because the nerve and vascular cords lie immediately anterior to the posterior fibrous cord. In the present case there are widespread arthrotic changes, both in the extremity joints and in the spine. These patients are short in stature. This, together with the general arthropathy, suggests a hereditary metabolic disturbance in the cartilaginous tissue.     

Multiple organ dysfunction syndrome

The simultaneous dysfunction of several organs represents a challenging task for the intensivist. Systemic inflammatory response syndrome (SIRS) and multiple organ dysfunction syndrome (MODS) are expressions of an inappropriate generalized inflammatory response of the host to a variety of infectious or non-infectious stimuli. In recent years, MODS is being encountered frequently in critically ill patients due to several causes. Experimental and clinical evidence suggests that the gut, endothelium and immune system interact to produce altered metabolic and cardiorespiratory patterns. It is thus possible that a target-oriented approach, including correction of intestinal hypoperfusion, supply of specific nutrients and downregulation of the inflammatory cascade, can act as either a preventive measure for subjects as risk or as the treatment for patients with full-blown MODS.     

Multiple organ dysfunction syndrome

The multiple organ dysfunction syndrome (MODS), though newly described, has manifested itself in intensive care unit (ICU) patients for several decades. As the name implies, it is a syndrome in which more than one organ system fails. Failure of these multiple organ systems may or may not be related to the initial injury or disease process for which the patient was admitted to the ICU. MODS is the leading cause of morbidity and mortality in current ICU practice. While the pathophysiology of MODS is not completely known, much evidence indicates that, during the initial injury which precipitates ICU admission, a chain of events is initiated which results in activation of several endogenous metabolic pathways. These pathways release compounds which, in and of themselves, are usually cytoprotective. However, an over exuberant activation of these endogenous systems results in an inflammatory response which can lead to development of failure in distant organs. As these organs fail, they activate and propagate the systemic inflammatory response. No therapy has proven entirely efficacious at modulating this inflammatory response and the incidence and severity of MODS. In current ICU practice, treatment is focused on prevention and treating individual organ dysfunction as it develops. With increased understanding of the pathophysiology of MODS therapy will come newer modalities which inhibit or interfere with the propagation of the endogenous systemic inflammatory response. These newer therapies hold great promise and already some are undergoing clinical investigation.     

Multiple myeloma developing myelodysplastic syndrome with thrombocytosis

A 64-year-old woman with multiple myeloma, IgG lambda type Durie-Salmon Stage II, was admitted because of gradually developing anemia and increased blasts with abnormal karyotype in her bone marrow after 10 years of treatment. The chromosomal analysis showed 44, XX, del(5q), del(7q), -9, add(12p), -21, typical of secondary MDS due to the cumulative alkylating agents. Thrombocytosis concomitantly occurred with emergence of chromosomal abnormality, but the serum interleukin 6 level was not elevated, which suggested that it was related to development of secondary MDS.     

Multiple endocrine neoplasia syndrome, type 2B

It was investigated whether there is a seasonal variation in sex ratio at birth in Germany. The analysis was based on records from the German Bureau for Statistics, covering the period from 1946 to 1995. A highly significant (P < or = 0.001), albeit low-amplitude rhythm was found with two peaks in May and December, and two nadirs in March and October. No correlations were found between sex ratios and seasonal birth rates during this period.     

Multiple primary cancers in families with Li-Fraumeni syndrome

BACKGROUND: Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, sarcomas, and other cancers in children and young adults. Members of families with this syndrome also develop multiple primary cancers, but the frequency is unknown. To approach this issue, we quantified the incidence of second and third primary cancers in individuals from 24 Li-Fraumeni kindreds originally diagnosed with cancer during the period from 1968 through 1986. METHODS: The relative risk (RR) of subsequent cancers and 95% confidence intervals (CIs) were calculated by use of population-based incidence data from the Connecticut Cancer Registry. Kaplan-Meier analysis was used to determine the cumulative probability (+/- standard error) of subsequent cancers. RESULTS: Among 200 Li-Fraumeni syndrome family members diagnosed with cancer, 30 (15%) developed a second cancer. Eight individuals (4%) had a third cancer, while four (2%) eventually developed a fourth cancer. Overall, the RR of occurrence of a second cancer was 5.3 (95% CI = 2.8-7.8), with a cumulative probability of second cancer occurrence of 57% (+/- 10%) at 30 years after diagnosis of a first cancer. RRs of second cancers occurring in families with this syndrome were 83.0 (95% CI = 36.9-187.6), 9.7 (95% CI = 4.9-19.2), and 1.5 (95% CI = 0.5-4.2) for individuals with a first cancer at ages 0-19 years, 20-44 years, and 45 years or more, respectively. Thirty (71%) of 42 subsequent cancers in this group were component cancers of Li-Fraumeni syndrome. CONCLUSIONS: Compared with the general population, members of Li-Fraumeni syndrome families have an exceptionally high risk of developing multiple primary cancers. The excess risk of additional primary cancers is mainly for cancers that are characteristic of Li-Fraumeni syndrome, with the highest risk observed for survivors of childhood cancers. Cancer survivors in these families should be closely monitored for early manifestations of new cancers.     

Mast cells and pterygium

A total of thirty pterygia were studied for mast cells using metachromatic dye (toluidine blue) together with routine histological stains. On microscopic examination, the lesion was differentiated and classified into angiomatous, fibrous and mixed varieties based on the vascular and collagenous components. The mast cell counts were undertaken in all types and were found to have significant correlation with the morphological types when compared to normal conjunctiva. 15.1 +/- 3.1, 22.7 +/- 3.8, 9.5 +/- 3.2 mast cell per mm2 were found in the angiomatous, mixed and fibrous types respectively. In the control material, the mast cell count was 12.4 +/- 2.3 per mm2. The results are discussed. It is believed that mast cells are actively involved in the genesis and progress of pterygium.     

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic severity, both between and within families, remain to be determined. This study examines the relationship between the FBN1 genotype and phenotype in families with extremely mild phenotypes and in those that show striking clinical variation among apparently affected individuals. In one family, clinically similar but etiologically distinct disorders are segregating independently. In another, somatic mosaicism for a mutant FBN1 allele is associated with subdiagnostic manifestations, whereas germ-line transmission of the identical mutation causes severe and rapidly progressive disease. A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype. These data have immediate relevance for the diagnostic and prognostic counseling of patients and their family members.     

Multiple accessory pathways in patients with the pre-excitation syndrome

We have studied 135 patients with the pre-excitation syndrome and have demonstrated evidence of multiple accessory pathways in 20 patients. Five patients had two distinct accessory atrioventricular (A-V) connections, associated with enhanced A-V node conduction in one patient. Twelve patients had a single accessory A-V connection associated with enhanced A-V conduction. In one of these there was an additional fasciculo-ventricular connection. One patient had an accessory A-V connection associated with a nodoventricular bundle. Two patients had fasciculo-ventricular connections combined with enhanced A-V conduction. The latter two patients had electrocardiograms suggestive of a complete accessory A-V connection. Patients with enhanced A-V conduction had shorter cycle lengths during reciprocating tachycardia, primarily because of a short A-H during the dysrhythmia, than those without such conduction. In addition, patients with enhanced A-V conduction demonstrated more rapid conduction from atrium to His bundle during induced atrial fibrillation and two developed life-threatening ventricular responses during atrial fibrillation. A nodo-ventricular pathway was documented to participate in reciprocating tachycardia in one patient. Surgery was undertaken in 13 patients. In 11, the intraoperative mapping studies confirmed the preoperative predictions. In two patients, the presence of a second accessory A-V connection was documented after ablation of one.     

Multiple myeloma presenting as parasellar syndrome and cranial nerve palsies

Cranial and intracranial locations have been rarely reported in multiple myeloma. Their occurrence as a harbinger of multiple myeloma seems to have a particular significance. In this report, we discuss a case of multiple myeloma presenting as parasellar syndrome and cranial nerve palsies. A 75-year-old woman was admitted to the hospital in June, 1994, with a 3-month history of headache and a 3-week history of diplopia and photophobia. Physical examination revealed right third, fourth and sixth cranial nerve palsies. MRI scan demonstrated a homogeneous, voluminous mass, isointense in T1-weighted images with the cerebral parenchyma and hyperintense in T2-weighted images, occupying the sphenoid sinus and extending within the sella turcica and right cavernous sinus. Lying above the mass and apparently separated from it by a thin rim of hypointensity was a normal pituitary gland. X rays revealed destructive changes of the sella turcica. A minimal disturbance of endocrine function together with a radiologically abnormal pituitary fossa indicated that the primary lesion might lie outside the pituitary fossa. A diagnosis of IgG-kappa type multiple myeloma was made by pertinent laboratory studies. She received local radiation to the intracranial mass (50 Gy) and conventional chemotherapy. Sixteen months after the therapy she is in good health.     

Multiple myeloma and AL amyloidosis mimicking Sj?gren''s syndrome

A 49-year-old white man had xerostomia, orthostatic hypotension, salivary gland enlargement, and a monoclonal gammopathy. Salivary gland biopsy revealed AL amyloidosis without histopathologic evidence of Sj?gren's syndrome; serologic evidence of Sj?gren's syndrome was also absent. Bone marrow biopsy revealed more than 30% plasma cells, and a diagnosis of multiple myeloma was made. The association of myeloma amyloidosis with salivary gland infiltration and xerostomia is rare. Unusual causes of xerostomia, such as myeloma amyloidosis, should be considered when histopathologic and serologic evidence of Sj?gren's syndrome are absent.     

An ultrastructural pathological study of pterygium

OBJECTIVE: To study the ultrastructural changes of pterygium. METHOD: The pathological ultrastructure of pterygium was studied by Hu-12A transmission electron microscopy in 14 specimens. RESULTS: The result indicated that normal and abnormal elastic fibers and collagenous fibers existed in the pterygium. As hyperplastic fibers intruded into the corneal subepithelium, Bowman's membrane was broken. To a certain extent, blood vessel multiplication and degeneration were found in the pterygium. One of the important factors was blood vessel multiplication and degeneration which affected the occurrence and development of pterygium. CONCLUSION: Multiplication and degeneration of elastic and collagenous fibers were the prominent pathological changes, and the pre-elastic fibers and denatured elastic fibers were the main compositions of pterygium.