Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Peroxisomal disorders include a complex spectrum of diseases, characterized by a high heterogeneity from both the clinical and the biochemical points of view. Specific assays are required for the study of peroxisome metabolism. Among these, pipecolic acid evaluation is considered as a supplementary test. We have established the diagnostic role of pipecolic acid in 30 patients affected by a peroxisomal defect (5 Zellweger syndromes, 10 Infantile Refsum diseases, 1 neonatal adrenoleukodystrophy, 6 patients affected by a peroxisomal biogenesis disorder with unclassified phenotype, 1 case of rhizomelic chondrodysplasia punctata (RCDP), 2 acyl-CoA oxidase deficiencies, 2 bifunctional enzyme deficiencies, 2 Refsum diseases, and 1 beta-oxidation deficiency). Pipecolic acid was increased in all generalized peroxisomal disorders, while normal pipecolic acid with abnormal very long chain fatty acid concentrations was strong evidence for a single peroxisomal enzyme deficiency. Unexpectedly, hyperpipecolic acidaemia was found also in a child affected by RCDP and in two patients with Refsum disease. In six patients the suggestion of a peroxisomal disorder was raised by the fortuitous finding of a pipecolic acid peak in amino acid chromatography, routinely performed as a general metabolic screening. For all patients, pipecolic acid proved to be a useful parameter in the biochemical classification of peroxisomal disorders.     

Recurrent diffuse lipomatosis of the neck--a case report

Diffuse lipomatosis is a rare disorder of adipose tissue occurring in young people . It has a predilection for trunk and proximal extremities where it presents as poorly circumscribed overgrowth of fatty tissue. Definite diagnosis is established by histological examination of tumor. Though it attains extensive size and has a high tendency to recur, the clinical course is benign.     

Two-Dimensional Echocardiographic Findings of Pulmonary Valve Cyst Secondary to Pulmonary Valvuloplasty

Real time two-dimensional transthoracic and transesophageal echocardiography demonstrated a mobile echolucent mass attached to the pulmonary valve in a 25-year-old adult, 20 years following balloon pulmonary valvuloplasty. The mass was surgically excised and pathology showed it to be a cyst.     

Usefulness of Live/Real Time Three‐Dimensional Transthoracic Echocardiography in Evaluation of Prosthetic Valve Function

We studied 31 patients with prosthetic valves (PVs) using two‐dimensional and three‐dimensional transthorathic echocardiography (2DTTE and 3DTTE, respectively) in order to determine whether 3DTTE provides an incremental value on top of 2DTTE in the evaluation of these patients. With 3DTTE both leaflets of the St. Jude mechanical PV can be visualized simultaneously, thereby increasing the diagnostic confidence in excluding valvular abnormalities and overcoming the well‐known limitations of 2DTTE in the examination of PVs, which heavily relies on Doppler. Three‐dimensional transthorathic echocardiography provides a more comprehensive evaluation of PV regurgitation than 2DTTE with its ability to more precisely quantify PV regurgitation, in determining the mechanism causing regurgitation, and in localizing the regurgitant defect. Furthermore, 3DTTE is superior in identifying, quantifying, and localizing PV thrombi and vegetations, in addition to the unique feature of providing a look inside mass lesions by serial sectioning. These preliminary results suggest the superiority of 3DTTE over 2DTTE in the evaluation of PVs and that it provides incremental knowledge to the echocardiographer. (ECHOCARDIOGRAPHY, Volume 26, November 2009)     

Fatal tetanus in a drug abuser with "protective" antitetanus antibodies

Tetanus is a rare disease in the United States. From 1995-1997, the average annual incidence of tetanus was 0.15/1,000,000 population. Injecting-drug users, particularly those who use heroin, are among the highest risk population for acquiring tetanus. We present a case of an injecting-drug user who was seen in the emergency department with worsening diffuse midthoracic back pain and spasms. He subsequently developed acute respiratory failure and central nervous system hypoxic injury. Serum obtained before administration of tetanus immune globulin showed a tetanus antibody titer greater than 16 times the level considered protective. Because of limited human data on the minimum protective level of neutralizing antibody, as well as reports of tetanus among individuals with "protective" antibody titers, the diagnosis of tetanus should not be excluded solely on the basis of antitetanus titers.     

Accuracy of the Papanicolaou test in screening for and follow-up of cervical cytologic abnormalities: a systematic review

PURPOSE: To evaluate the accuracy of conventional and new methods of Papanicolaou (Pap) testing when used to detect cervical cancer and its precursors. DATA SOURCES: Systematic search of English-language literature through October 1999 using MEDLINE, EMBASE, other computerized databases, and hand searching. STUDY SELECTION: All studies that compared Pap testing (conventional methods, computer screening or rescreening, or monolayer cytology) with a concurrent reference standard (histologic examination, colposcopy, or cytology). DATA EXTRACTION: Two reviewers independently reviewed selection criteria and completed 2 x 2 tables for each study. DATA SYNTHESIS: 94 studies of the conventional Pap test and three studies of monolayer cytology met inclusion criteria. No studies of computerized screening were included. Data were organized by cytologic and histologic thresholds used to define disease. For conventional Pap tests, estimates of sensitivity and specificity varied greatly in individual studies. Methodologic quality and frequency of histologic abnormalities also varied greatly between studies. In the 12 studies with the least biased estimates, sensitivity ranged from 30% to 87% and specificity ranged from 86% to 100%. CONCLUSIONS: Insufficient high-quality data exist to estimate test operating characteristics of new cytologic methods for cervical screening. Future studies of these technologies should apply adequate reference standards. Most studies of the conventional Pap test are severely biased: The best estimates suggest that it is only moderately accurate and does not achieve concurrently high sensitivity and specificity. Cost-effectiveness models of cervical cancer screening should use more conservative estimates of Pap test sensitivity.     

Fibrotic aortic stenosis in a patient with dwarfism

In this report, we present an adult patient with dwarfism who had severe aortic stenosis with markedly thickened fibrotic valve leaflets without calcification. These findings were well demonstrated by both two- and three-dimensional transesophageal echocardiography and confirmed at surgery and by pathological examination.     

Transesophageal echocardiographic identification of right vertebral artery

We describe a transesophageal technique for identifying the origin and precervical course of the right vertebral artery with the probe positioned in the upper esophagus. The technique was successful in 9 of 11 patients in whom it was attempted.     

Surgical management of unruptured aneurysms: prognostic indicators

BACKGROUND: The treatment of unruptured aneurysms (UA) remains controversial. Therefore, it has become necessary to define various prognostic indicators in the surgical treatment of unruptured aneurysms not associated with previously ruptured aneurysms. METHODS: During a 6-year period, 78 unruptured aneurysms were managed. The results of management were retrospectively reviewed to define the prognostic indicators. RESULTS: There were 104 patients with unruptured aneurysms who underwent surgical treatment. Seventy-five patients without previous subarachnoid hemorrhage (SAH) were selected for data analysis. Eighty-seven percent of the aneurysms were on the anterior circulation. The most common location was the middle cerebral artery (MCA) followed by the posterior communicating artery (PCom), ophthalmic artery, and anterior communicating artery (ACom). Six percent were found on the basilar artery. The mean size of aneurysms was 12.5 mm (range = 3-30 mm, SD = 7.4). At surgery, rupture of the aneurysm was encountered in eight cases with temporary control of the parent vessel being required in 31 procedures. In four cases, intraoperative angiography warranted clip reapplication. The Glasgow Outcome Scale (GOS) was used as an outcome measure. Surgical treatment resulted in good outcome (GOS 1) in 87% and 10.7% had fair outcome; 2.3% were in GOS 3 (severe disability) at 6 month follow-up. There was no mortality. Logistic regression identified significant relationships between GOS and intraoperative rupture (p < 0.0002), rupture and size (p < 0.003), and size and age (p < 0.01). CONCLUSIONS: Large size aneurysms were associated with intraoperative rupture, which had a strong correlation with poor outcome. Increased age showed a linear relationship with the size of the aneurysm. Overall results of treatment for UA are gratifying. There was no mortality. Early diagnosis and surgical extirpation of UA may reduce both intraoperative difficulties as well as poor outcome probability.