Ocular findings in the chromosome 22q11.2 deletion syndrome.

PURPOSE: To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients. METHODS: Ocular abnormalities were evaluated prospectively in patients with 22q11.2 deletion at the Children's Hospital of Philadelphia between 1997 and 1999. RESULTS: Ninety patients with confirmed 22q11.2 deletion were examined. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. CONCLUSIONS: The high incidence of ocular conditions that can potentially affect visual development suggest that children with 22q11.2 deletion should undergo a comprehensive eye examination upon diagnosis of the condition with follow-up as indicated by the findings in each case. In addition, knowledge of the ocular findings, in conjunction with certain cardiac, otolaryngologic, immunologic, and other systemic findings, may alert physicians to the possibility of a chromosome 22q11.2 deletion.     

Failure modes of left ventricular reconstruction or the Dor procedure: a multi-institutional perspective.

BACKGROUND: Complex ventricular reconstruction (CVR) is now being employed increasingly thanks to the pioneering work of Dor. However, little is known about the failure mode of CVR. We present experience from three centres with CVR and an analysis of the failure modes. METHODS: Between January 1997 and February 2005, 284 patients underwent CVR in three centres in Australia and USA. All of the procedures were performed as adjuncts to coronary artery surgery and/or valvular surgery. Patients were followed-up clinically and/or echocardiographically. Failure modes were classified as fatal or non-fatal. Non-fatal failure mode (NFM) was defined as either persistent heart failure, recurrence of LV scar, need for ventricular assistance, persistent ventricular arrhythmia, or a combination. RESULTS: Operative mortality rate (OMR) was 8% (23 deaths). This fatal failure mode was most related to urgency of surgery and cardiogenic shock in 15 patients (5.3% of OMR), stroke in 5 patients (1.8%) or postoperative bi-ventricular failure (1%). Non-fatal failure modes accounted for morbidity in 26 patients (9%). This was predominantly due to persistent septal dyskinesis in 7 patients (2.46%), persistent mitral regurgitation in 5 (1.8%), postoperative ventricular tachycardia in 4 (1.4%), sub-optimal myocardial protection in 4 (1.4%) use of a large, stiff patch in 4 (1.4%). One hundred and ninety-nine of the surviving 261 patients (76%) were in NYHA Class I. CONCLUSIONS: Complex ventricular reconstruction is a robust technique that has lasting benefit. Failure modes have been identified and could be minimized by appropriate patient and procedure selection.     

A prospective study of the association of cerebrospinal fluid monoamine metabolite levels with lethality of suicide attempts in patients with bipolar disorder

Objectives:  Bipolar disorder is a severe illness that is associated with suicidal behavior. A biological predictor of highly lethal suicide attempts in patients with bipolar disorder would be valuable. We hypothesized that cerebrospinal fluid (CSF) monoamine metabolite levels are related to lethality of suicide attempts in bipolar patients and examined the relation between CSF 5-hydroxyindolacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) levels and maximum lethality of suicide attempts at baseline and during a 2-year follow up.
Methods:  Twenty-seven bipolar depressed patients participated in the study. Demographic and clinical parameters were examined and recorded. Lumbar punctures were performed and CSF 5-HIAA, HVA, and MHPG were assayed by high-performance liquid chromatography with electrochemical detection. Following discharge, patients were evaluated after 3 months, 1 year, and 2 years. Each follow-up interview included an in-depth assessment of suicidal behavior during the intervening time period.
Results:  Six subjects made suicide attempts during the 2-year follow-up. Bipolar patients who attempted suicide during the follow-up period had higher aggression and hostility scale scores compared to bipolar subjects who did not make a suicide attempt during the follow-up period. CSF 5-HIAA, HVA, and MHPG levels were negatively correlated with the maximum lethality of suicide attempts during the 2-year follow-up period.
Conclusions:  Our finding is the first observation that CSF monoamine metabolite levels may be predictors of lethality of suicide attempts in patients with bipolar disorder. Further studies are necessary to answer the question whether CSF monoamine metabolite levels are clinically useful biochemical predictors of highly lethal suicide attempts or completed suicides.     

Case report. Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI

We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical findings. Only 5 patients have been previously described with this transient form of nonketotic hyperglycinaemia. Among the radiographic findings, thinning of the corpus callosum is the most characteristic. Received: 26 June 1996 Accepted: 29 November 1996     

Severe hypoxemia due to a right-left shunt at the level of the foramen ovale. A complication of right ventricular infarct]

A 76-year-old woman with an inferior wall myocardial infarction, with right ventricular involvement, developed severe arterial hypoxemia with neurological involvement. Pulmonary edema or embolism and chronic obstructive pulmonary disease were ruled-out, and a right-to-left shunt was demonstrated by contrast echocardiography at the level of the foramen ovale. After inotropic support and oxygen supplementation, the patient recovered, although with significant neurological sequelae. No focal lesions were detected in the central nervous system by computerized tomography. Hypoxemia improved, coinciding with the disappearance of right-to-left shunt by contrast echocardiography.