RESUMEN

The notion that inherited predisposition contributes to the development of haematological malignancies is generally thought of as being a relatively new idea. However, Videbaek made a clear enunciation of such a hypothesis in 1947, from a study of tumour incidence in relatives of patients with different leukaemias. To gain further insight into inherited susceptibility to chronic lymphocytic leukaemia (CLL), we followed up the descendants of Videbaek's 'Pedigree 14' series of families. Using the Danish medical and pedigree databases, complete tracing of 222 descendants of the original 57 family members was achieved. To date, 10 family members have been diagnosed with CLL, one with T-cell lymphoma and 17 with nonhaematological cancers, including five with breast cancer. The detailed follow up of this family provides further support for inherited predisposition to CLL and illustrates the value of follow-up studies of previously published family material for genetic analyses.

Asunto(s)

RESUMEN

The genetic basis of familial CLL is poorly understood and to date no gene which when mutated in the germline has been unambiguously shown to confer susceptibility to the disease. Dok1 maps to chromosome 2p13, a region commonly rearranged in CLL. Dok1 inhibits MAP kinase activity, down-regulates cell proliferation and has a suppressive effect on cellular transformation and B-cell signalling pathways. A recent report has implicated mutation of Dok1 in the aetiology of CLL. To examine the proposition that germline mutations in Dok1 act as high penetrance susceptibility alleles for CLL we screened 140 familial cases for functional sequence variants. No pathogenic mutations were detected. This result indicates that germline mutations in Dok1 are unlikely to cause an inherited predisposition to CLL.

Asunto(s)

Asunto(s)

RESUMEN

We present a patient with a cyclodialysis cleft in whom, after established medical, laser, and initial surgical interventions had failed to close the cleft, we successfully used ab externo suture placement to appose and close it. Although we present only one case, we believe this procedure, which may be useful in pseudophakic and aphakic eyes, is easier to perform than previously described techniques.

Asunto(s)

RESUMEN

We retrospectively reviewed all of the 176 phacoemulsification procedures attempted by two third-year residents from July 1, 1991 to June 30, 1992. The in situ nuclear fracture technique was performed in 131 eyes; a nonfracture technique in 45. Overall, the rate of vitreous loss was 4.5% (8 of 176). The rate of vitreous loss associated with the in situ nuclear fracture technique was 3.1% (4 of 135); with the nonfracture technique, 8.9%. We conclude that phacoemulsification can be learned and performed by residents with vitreous loss rates comparable to those reported for extracapsular cataract extraction.

Asunto(s)

RESUMEN

A case of sympathetic ophthalmia is presented in which a single lesion located posteriorly at the level of the retinal pigment epithelium caused a serous macular detachment. We believe that this lesion represented an atypical Dalen-Fuchs nodule. Most reports of the fluorescein angiographic appearance of Dalen-Fuchs nodules describe multiple sites of choroidal leakage during the early phases, which may coalesce during the late phases of the angiogram. The lesion we detected was hypofluorescent in early phases of the fluorescein angiogram and showed late staining. The early hypofluorescence seen in the lesion may be explained by an intact retinal pigment epithelium over the presumed Dalen-Fuchs nodule, blockage of choroidal fluorescence by the nodule, and areas of granulomatous inflammation in the inner choroid and choriocapillaris. The staining in the late phases of the fluorescein angiogram may be explained by accumulation of fluorescein into the presumed Dalen-Fuchs nodule.

Asunto(s)

RESUMEN

We report the case of a patient with isolated ocular involvement and non-Hodgkin's lymphoma (also known as reticulum cell sarcoma). Most non-Hodgkin's central nervous system lymphomas are large cell lymphomas derived from B-cells. The patient initially had iritis OD and vitreous cells OS. Eventually, rubeosis and vitritis developed OD. A systemic workup showed no extraocular lymphoma. Immunocytochemical analysis was done on the vitreous OD and detected a monoclonal B-cell population of large lymphoid cells. This case shows the frequent delay in making the diagnosis of this condition. This diagnosis must be remembered when a patient has vitreous opacities.

Asunto(s)

RESUMEN

We report two cases of central retinal vein occlusion occurring after heart-lung transplantation in young adults. The patients underwent cardiopulmonary bypass during heart-lung transplantation, which may produce systemic hypotension and increased intraocular pressure. In addition, cardiopulmonary bypass is associated with disturbances in hemostasis and alterations in platelet function. Clotting factors frequently are administered during and after transplantation. Systemic hypothermia also is induced during cardiopulmonary bypass. Postoperatively, these patients developed hypertension and hyperlipidemia secondary to the immunosuppressive therapy used to help prevent rejection. It was postulated that these conditions may predispose a patient to having a central retinal vein occlusion.

Asunto(s)

Asunto(s)

RESUMEN

The incidence of vitreous loss among third-year residents learning phacoemulsification was retrospectively evaluated. One hundred thirty-six cases of phacoemulsification were performed by six different third-year residents with the same attending physician supervising all cases. The incidence of vitreous loss was 14.7%. This study demonstrates that the rate of vitreous loss among residents learning phacoemulsification is higher than the reported incidence of vitreous loss for residents learning planned extracapsular cataract surgery with expression of the lens nucleus.

Asunto(s)

RESUMEN

We report the case of a patient with recurrent hemorrhagic choroidal detachments after combined cataract and filtering surgery associated with exacerbation of chronic disseminated intravascular coagulation (DIC). It was postulated that the formation and drainage of the hemorrhagic choroidal detachments induced thrombin generation and consequently coagulation factor and platelet consumption. Fibrinolysis resulted in the release of fibrin-degradation products (FDP). Consumption of clotting factors and platelets combined with FDP release may result in decompensation of a chronic DIC state and cause a bleeding diathesis. This case shows the need for complete hematologic evaluation of patients with hemostatic abnormalities.

Asunto(s)

RESUMEN

When a Molteno implant is being inserted, the silicone tube occasionally can be misdirected anteriorly, bringing the end of the tube dangerously close to the corneal endothelium. A paralimbal compression suture of 8-0 nylon may redirect the tube more posteriorly, preventing such contact.

Asunto(s)

Asunto(s)

RESUMEN

Foreign body forceps were used to stabilize a hard lens nucleus during phacofragmentation in the posterior segment. This technique allows removal of the hard lens nucleus with minimal manipulation and without the need for a larger incision.

Asunto(s)

RESUMEN

The effect of topical dapiprazole, an alpha-adrenergic receptor blocker, in reversing mydriasis was studied in 50 subjects who received tropicamide 1% and phenylephrine 2.5%. There was a significant difference in the decrease in pupil size between the eye that received dapiprazole and the control eye. This study suggests that dapiprazole 0.5% eye drops are effective and safe in reversing mydriasis after instillation of tropicamide 1% and phenylephrine 2.5%.

Asunto(s)

Asunto(s)

RESUMEN

To help ensure proper placement of an iris fixation suture, a peripheral iridectomy can be performed to allow visualization of the superior haptic of a posterior chamber intraocular lens (PC-IOL). In cases where support for the PC-IOL is in question, an iris fixation suture using this technique provides an easy way of ensuring adequate support.

Asunto(s)

RESUMEN

Both eyes (obtained at autopsy) from a 79-year-old man with a history of age-related macular degeneration and glaucoma were studied. One eye was studied histologically using light microscopy and transmission electron microscopy. The other eye was prepared for scanning electron microscopy after injection of Batson's mixture into the ocular vasculature. Well-developed anastomoses between the retinal and choroidal circulation in the macular area and a pathologic tubular pattern of the choriocapillaris were found. This is an adaptation of the perifoveal circulation to changes in the fovea and a choroidal vascular response to damaged tissue.

Asunto(s)

RESUMEN

We describe the case of a patient with acquired immunodeficiency syndrome (AIDS) who had internuclear ophthalmoplegia (INO) and subsequent rapid neurologic deterioration. To our knowledge, this is the first report of a patient with AIDS and INO.

Asunto(s)

Asunto(s)