Pseudoexfoliation syndrome and cataract surgery by phacoemulsification

Pseudoexfoliation syndrome is a systemic age-related disease in which abnormal extracellular material is produced and accumulates in many ocular tissues. Its ocular manifestations involve all of the structures of the anterior segment as well as conjunctiva and orbital structures. The presence of pseudoexfoliation should alert the physicians to the increased risks associated during and after cataract surgery. Increasing awareness of this condition are important in the detection and preoperative determination of patients inclined to be at greater risk for complications during surgery. Data regarding the rate of complications during phacoemulsification suggest a lower complication rate than with exstracapsular extraction but still greater than in eyes without pseudoexfoliation. Despite the existence of a higher number of intraoperative and postoperative complications, experience with the phacoemulsification technique together with the improvement of the apparatus and instruments used enable similar results to obtained in eyes with pseudoexfoliation syndrome as in eyes without this pathology.     

Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations

Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, dental and genitourinary anomalies. Here we present a case of Lenz microphthalmia syndrome that shows the typical characteristics and, additionally, macrophallus, a broad chest with widely spaced nipples, wide gap between first and second toes, which are unusual manifestations in Lenz Microphthalmia Syndrome.     

Extracutaneous manifestations of Kaposi's sarcoma: a systemic lymphoblastoma

Kaposi's sarcoma may affect any system of the body. Serious difficulties occur only when the heart, lungs or gastrointestinal tract are affected. Usually, involvement in other viscera causes no clinical symptoms.This neoplasm is thought to be a low-grade lymphoblastoma. This idea of relationship is based on clinical and histologic association of Kaposi's sarcoma with the lymphoblastomas more commonly than would be anticipated from the rarity of the conditions under consideration. This concept is strengthened by the occasional seeming mutation of Kaposi's sarcoma into a lymphoblastoma. The associated reticuloendothelial hyperplasia in Kaposi's sarcoma is another link in the evidence of relationship.     

Barth syndrome, a human disorder of cardiolipin metabolism

Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often including heart failure, myopathy, neutropenia, and growth retardation. This article provides an overview of the molecular basis of Barth syndrome. It is argued that tafazzin, a phospholipid acyltransferase, is involved in acyl-specific remodeling of cardiolipin, which promotes structural uniformity and molecular symmetry among the cardiolipin molecular species. Inhibition of this pathway leads to changes in mitochondrial architecture and function.     

46,XX ovotesticular disorder in a Mexican patient with Beckwith--Wiedemann syndrome: a case report

ABSTRACT: INTRODUCTION: Beckwith--Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith--Wiedemann syndrome cases are sporadic. Beckwith--Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. CASE PRESENTATION: We report the case of a Mexican six-year-old girl with Beckwith--Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. CONCLUSION: Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith--Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders.     

Autoantibody profile in systemic lupus erythematosus with psychiatric manifestations: a role for anti-endothelial-cell antibodies

This study was performed to determine the correlation between psychiatric manifestations and several autoantibodies that might participate in the pathogenesis of psychiatric disorders in the course of systemic lupus erythematosus (SLE). Fifty-one unselected outpatients with SLE were enrolled. Psychiatric evaluation was performed according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. The prevalence of antibodies against endothelial cells (AECA), cardiolipin, β2 glycoprotein I, Ro, Ro52, La, glial fibrillary acidic protein, ribosomal P protein, dsDNA, and nucleosomes was assessed by experimental and commercial enzyme-linked immunosorbent assays. According to the cutoff value, AECA were present in 11 of 17 (64.7%) SLE patients with psychosis and mood disorders and in 10 of 34 (29.4%) patients without psychiatric manifestations other than anxiety (P = 0.03). Moreover, the AECA binding index was significantly higher in the first group (P = 0.03). Conversely, no significant correlation was found between the presence of the other autoantibodies studied and psychiatric involvement. The results of this study suggest a relationship between AECA and psychosis and mood disorders in SLE, supporting the hypothesis of a biological origin of these disturbances.     

Mood disorder in a patient with Smith-Magenis syndrome: a case report

Smith-Magenis syndrome (SMS) is a microdeletion syndrome characterized by physical and neurobehavioural features. This report describes the case of a 27 year old female affected by SMS associated with a diagnosis, according to DSMIV criteria, of Mood Disorder N.O.S. and Intermittent Explosive Disorder. To our knowledge, the association of SMS with mood shifts has never been reported. Considering the genetic alterations that characterizes the SMS, further investigations on the region of the chromosome 17p11.2 could help produce more information on the role of melatonin in the genesis of mood disorder.     

Toxic shock syndrome in a patient with systemic lupus erythematosus.

A case is presented of toxic shock syndrome in a patient with systemic lupus erythematosus. Toxic shock syndrome is rarely reported in patients who are immunosuppressed, perhaps because such patients are often treated vigorously with antibiotics at the earliest sign of infection. The association in this case may have been coincidental.