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Biomedical subjects

R Schulz

Publications and source records attributed to R Schulz.

At least 325 records · Page 18Linked to original sources
PubMed1995

Bradycardic agent UL-FS 49 attenuates ischemic regional myocardial dysfunction and reduces infarct size in swine: comparison with the beta-blocker atenolol.

Heart rate (HR) is a major factor determining the severity of myocardial ischemia, and HR reduction is an effective therapy for myocardial ischemia. We tested the effects of HR reduction induced by either UL-FS 49 or atenolol on regional myocardial blood flow, function, and infarct size (IS) in a porcine model of 90-min low-flow ischemia and 2-h reperfusion. In 24 Göttinger miniswine, the left anterior descending coronary artery (LAD) was cannulated and hypoperfused at constant inflow to reduce anterior systolic wall thickening (AWT, sonomicrometry) by approximately 85%. Eight swine served as a placebo group, and 8 other swine received UL-FS 49 (0.60 mg/kg intravenously, i.v.) after 10-min ischemia. In the remaining 8 swine, atenolol was infused after 10-min ischemia at a dosage [mean 1.75 +/- 1.20 (SD) mg/kg i.v.] to mimic the HR reduction observed with UL-FS 49. Systemic hemodynamics, subendocardial blood flow (ENDO, microspheres) and AWT were measured under control conditions, at 10 and 90 min of ischemia. In the swine receiving UL-FS 49 or atenolol, additional measurements were made 5 min after administration of the respective drug. After 2-h reperfusion, IS (percentage of area at risk) was determined with TTC-staining. Five minutes after administration of UL-FS 49, HR was decreased from 113 +/- 9 to 83 +/- 13 beats/min (p < 0.05) and remained unchanged when ischemia was prolonged to 90 min. In the swine receiving atenolol, HR was reduced from 117 +/- 14 to 93 +/- 7 beats/min (p < 0.05) 5 min after drug administration and decreased further to 87 +/- 10 beats/min when ischemia was prolonged to 90 min. After 10 min of ischemia, AWT in the placebo, UL-FS 49, and atenolol group was decreased to 7.0 +/- 5.5, 6.4 +/- 3.5, and 6.2 +/- 3.3% (all p < 0.05 vs. control), respectively. The reduction in ENDO was also comparable among the three groups. In the placebo group, AWT remained unchanged when ischemia was prolonged to 90 min (4.4 +/- 2.6%). In swine receiving atenolol, AWT tended to increase (13.6 +/- 10.5%), whereas in swine receiving UL-FS 49, AWT was significantly increased to 21.4 +/- 7.1% (p < 0.05 vs. 10-min ischemia and vs. the placebo and atenolol groups). IS was significantly reduced in swine receiving atenolol (3.9 +/- 3.5%) or UL-FS 49 (5.8 +/- 4.6%) as compared with the placebo-group (10.4 +/- 8.9%).(ABSTRACT TRUNCATED AT 400 WORDS)

Adenosine Triphosphate↗
PubMed1995

Detection of clenbuterol (Ventipulmin) in the horse.

An enzyme linked immunosorbent assay (ELISA) was developed to detect the beta 2-agonist clenbuterol in equine blood and urine. The antiserum was raised in rabbits, employing clenbuterol-diazo-BSA as antigen. Clenbuterol-diazo-horseradish peroxidase served as enzyme conjugate. The concentration of clenbuterol to decrease tracer binding by 50% (IC50 value) was found to be 27.50 +/- 4.20 pg/well (1.37 ng/ml). The antibody cross-reacted with salbutamol (30%), terbutaline (14%) and cimaterol (1%). Horse serum was used directly to screen for clenbuterol, while urine was employed diluted. Positive screening results were confirmed by means of two independent HPLC systems combined with off-line detection by the clenbuterol-ELISA. Salbutamol served as internal standard to ascertain relative retention of the drug. The detection limit of clenbuterol in serum and urine amounted to 0.04 ng/ml. In addition, GC/MS technique was applied to detect clenbuterol in urine samples by a newly developed derivatization method. Confirmation of intravenously given clenbuterol in serum of horses treated with Ventipulmin (0.8 microgram clenbuterol.HCl/kg) was achieved by HPLC/ELISA up to 24 h, in urine up to 96 h. After oral administration, the beta 2-agonist was detected in serum for 48 h and in urine for 75 h.

Adrenergic beta-Agonists↗
PubMed1995

The role of nitric oxide in cardiac depression induced by interleukin-1 beta and tumour necrosis factor-alpha.

1. Myocardial dysfunction during septic shock is associated with enhanced production of cytokines such as interleukin-1 beta (IL-1 beta) and tumour necrosis factor-alpha (TNF-alpha). These cytokines depress cardiac mechanical function by a mechanism which is not well defined. 2. Bacterial endotoxin or cytokines cause the expression of Ca(2+)-independent nitric oxide (NO) synthase in cardiac myocytes, vascular endothelial cells and endocardial endothelial cells, causing enhanced production of NO. As NO has negative inotropic actions on cardiac muscle, we tested the sum effects of IL-1 beta plus TNF-alpha in the intact heart to determine whether enhanced expression of NO synthase activity in the cells that comprise the heart is involved in cardiac depression associated with cytokine stimulation. 3. Rat isolated working hearts perfused with IL-1 beta plus TNF-alpha showed a markedly greater depression in contractile function, measured as cardiac work, after 2 h of perfusion compared with time-matched control hearts. The depressant action of IL-1 beta plus TNF-alpha was first apparent after 1 h of perfusion; no early (15 min) cardiac depressant actions were seen. 4. The competitive inhibitor of Ca(2+)-dependent and Ca(2+)-independent NO synthases, NG-nitro-L-arginine methyl ester (L-NAME, 3 microM) when given concurrently with IL-1 beta plus TNF-alpha prevented the loss in contractile function such that these hearts after 2 h of perfusion had similar function to time-matched controls. L-NAME did not acutely reverse the loss of contractile function in hearts exposed for 2 h to IL-1 beta plus TNF-alpha. The protective action of L-NAME in the presence of cytokines was concentration-dependent and was not seen at a higher concentration (10 micro M) due to the significant reduction in coronary flow observed at this concentration.5. In contrast, when L-NAME (3 micro M) was given in the absence of IL-l beta plus TNF-alpha it depressed contractile function over the 2 h perfusion period by significantly reducing coronary flow.6. Inhibition of protein synthesis with cycloheximide (Cx) abolished the loss in function that occurred over 2h in both control and IL-1 beta plus TNF-a-treated hearts.7. Inducible, Ca2+-independent NO synthase activity was not observed in freshly isolated hearts but was observed in control hearts perfused for 2 h in vitro and was doubled in hearts perfused with IL-1 beta plus TNF-a. Cx prevented the expression of Ca2+-independent NO synthase in both control and cytokine-treated hearts.8. In summary, these results suggest that the depression of myocardial function by IL-l beta plus TNF-alpha is mediated, at least in part, by induction of Ca2+-independent NO synthase activity in the heart.

Amino Acid Oxidoreductases↗
PubMed1995

Regional short-term myocardial hibernation in swine does not involve endogenous adenosine or KATP channels.

Short-term hibernating myocardium is characterized by reduced contractile function during persistent ischemia, the recovery of metabolism over time, a recruitable inotropic reserve, and the lack of necrosis. The mechanisms underlying myocardial hibernation are unclear. The present study addressed the role of endogenous adenosine and that of activation of ATP-dependent potassium (KATP) channels. In 22 enflurane-anesthetized swine, coronary inflow was reduced to decrease regional myocardial work (W, measured by sonomicrometry) by 60-70% at 5 min of ischemia; this flow reduction has previously been shown to be compatible with the development of myocardial hibernation. Systemic hemodynamics, W, subendocardial blood flow (measured by microspheres), and the myocardial creatine phosphate content (measured by biopsies, mumol/g wet wt) were measured under control conditions and during 90 min of ischemia, with an intracoronary dobutamine infusion during the last 5 min of ischemia. The impact of endogenous adenosine was eliminated by infusion of intracoronary adenosine deaminase (ADA), and the impact of activation of KATP channels by glibenclamide. Creatine phosphate content recovered in the placebo-treated swine (n = 8, 3.8 +/- 1.9 to 5.8 +/- 2.0 mumol/g wet wt) as well as in swine receiving ADA (n = 7, 4.1 +/- 1.2 to 6.0 +/- 1.7 mumol/g wet wt) or glibenclamide (n = 7, 2.8 +/- 1.3 to 6.7 +/- 1.6 mumol/g wet wt) when ischemia was prolonged from 5 to 85 min. At the end of 90 min of ischemia, W increased during intracoronary dobutamine in all three groups to a comparable extent, and myocardial necrosis was absent in all three groups of swine.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenosine↗
PubMed1995

Intraischemic preconditioning. Increased tolerance to sustained low-flow ischemia by a brief episode of no-flow ischemia without intermittent reperfusion.

Ischemic preconditioning (IP) and myocardial hibernation (MH) are both adaptive phenomena during acute myocardial ischemia, characterized by preserved myocardial viability and attenuated alterations of energy metabolism. Recent data from isolated buffer-perfused rabbit hearts pointed to a further link between IP and MH, in that an initial stimulus of no-flow ischemia was required to permit the development of MH during subsequent sustained low-flow ischemia. In the present study, we therefore investigated in the in situ pig heart whether a brief episode of no-flow ischemia enhances the myocardial tolerance to subsequent sustained low-flow ischemia. By blocking ATP-dependent potassium channels, we attempted to further determine whether such increased tolerance to ischemia is related to IP or MH, since blockade of ATP-dependent potassium channels abolishes the cardioprotection achieved by IP but not by MH. In 8 enflurane-anesthetized pigs serving as controls (group 1), the inflow into the cannulated left anterior descending coronary artery was reduced to achieve a 90% reduction in the anterior myocardial work index (sonomicrometry) for 90 minutes. In 15 pigs (group 2), a 10-minute no-flow ischemic episode preceded 80 minutes of sustained ischemia at a blood flow reduction identical to that in pigs of group 1. In 8 additional pigs (group 3), glibenclamide was administered before the 10-minute no-flow ischemic episode. In all pigs after 120 minutes of reperfusion, infarct size (IS, percentage of area at risk) was determined by triphenyltetrazolium chloride staining. In group 2, IS was reduced (6.8 +/- 6.0% [mean +/- SD], P < .05) when compared with groups 1 (13.2 +/- 9.8%) and 3 (16.7 +/- 8.3%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adenosine Triphosphate↗
PubMed1995

Expression and differential regulation of natriuretic peptides in mouse macrophages.

The coexpression of the natriuretic peptides ANP, BNP and CNP as well as their differential regulation in mouse macrophages was demonstrated by quantitative PCR, HPLC analysis, and specific radioimmunoassays. Exposure of peritoneal- and bone marrow-derived macrophages to various immunomodulators revealed that bacterial LPS strikingly increases (up to 300-fold) the mRNA coding for CNP as does zymosan (up to 15-fold). In this respect, neither the phorbol ester PMA nor the glucocorticoid dexamethasone had any effect. Examination of macrophages for ANP mRNA showed a similar response to LPS and zymosan, though only a three- to sixfold increase, confirming previous data. In contrast, the concentration of mRNA coding for brain natriuretic peptide in these cells was reduced by dexamethasone (up to twofold) as well as LPS (two- to fivefold). No change was observed upon challenge with zymosan or PMA. The findings at the mRNA level are complemented by their corresponding peptide products. Incubation of macrophages with LPS resulted in a two- and fivefold elevation of intracellular ANP and CNP immunoreactivity, respectively. The amount of peptides released from cells under these conditions was found increased for ANP (threefold) and CNP (10-fold). No changes were observed for both intra- and extracellular brain natriuretic peptide. The coexpression of natriuretic peptides in macrophages as well as their different regulations by immunomodulators suggest discrete functions of these peptides within the immune system.

Animals↗
PubMed1995

Amnesia of the epileptic aura.

In a prospective study lasting 6 months, we recorded on video 108 seizures with aura of 23 patients in an attempt to evaluate the mechanisms involved in the encoding of memories. In 88 of those seizures, we also recorded an EEG. The percentage of auras remembered decreased significantly with increasing severity of the seizures. The recollection of auras was also significantly dependent on the ictal EEG changes during the aura. Ninety-seven percent of the auras without EEG changes, 94% of the auras with unilateral EEG changes, and 73% of the auras with bilateral EEG changes during the aura were remembered. The spread of the ictal EEG pattern during the aura also showed a significant correlation with the severity of the ensuing seizure. Three patients with bitemporal epilepsy made up a considerable proportion of those who never remembered their aura before secondary generalized tonic-clonic seizures (2 of 3) and of those who had a transient postictal amnesia of their aura (2 of 3). The only patient who failed to remember a previously documented isolated aura also suffered from bitemporal epilepsy. During the second part of the study, we questioned whether information provided during the history could be helpful in defining the type of epilepsy syndrome or localizing the EEG seizure pattern of the 80 patients who had been admitted for presurgical epilepsy diagnosis. Localized (regional, unilateral, and independent left and right lateral) EEG seizure patterns occurred in 82% of the 51 patients with auras in their history as compared with 24% of the 17 patients who did not have auras in their history (p < 0.01).

Amnesia↗
PubMed1995

Inhibition of nitric oxide synthesis protects the isolated working rabbit heart from ischaemia-reperfusion injury.

OBJECTIVES: Nitric oxide (NO) exerts both protective and detrimental actions in a variety of biological systems. During acute reperfusion following myocardial ischaemia, a rapid overproduction of free radicals, including NO, may occur. We investigated the effects of the NO synthase inhibitors NG-nitro-L-arginine methyl ester (L-NAME) and NG-monomethyl-L-arginine (L-NMMA), and the substrate for NO synthesis, L-arginine, on heart function during ischaemia and reperfusion injury. METHODS: Spontaneously beating, isolated working rabbit hearts, perfused with modified Krebs-Henseleit buffer containing 1.2 mM palmitate bound to 3% bovine serum albumin, were subjected to 15 min of aerobic perfusion followed by 35 min of global, no-flow ischaemia and 30 min of aerobic reperfusion. RESULTS: Throughout the reperfusion period there was a marked impairment in the recovery of mechanical function, measured as the product of heart rate x peak systolic pressure (rate-pressure product). Addition of L-NAME (3 microM) prior to the onset of ischaemia, but not at reperfusion, caused an immediate and significant increase in the recovery of mechanical function throughout the reperfusion period. The protective action of L-NAME was abolished by L- (but not D-) arginine (100 microM). L-NAME did not cause ischaemia as it did not alter glycogen or lactate content of aerobically perfused hearts. Furthermore, it did not prevent glycogen loss or lactate accumulation during 35 min of ischaemia, suggesting that the effects of L-NAME were not due to metabolic alterations during ischaemia itself. L-NMMA (30 microM) added prior to ischaemia, but not at reperfusion, also had a protective effect which was seen later in the reperfusion period. Addition of L- (but not D-) arginine (100 microM) prior to the onset of ischaemia resulted in an improved recovery of mechanical function only at 15 min of reperfusion. CONCLUSIONS: These results suggest that: (1) the recovery of mechanical function of hearts subjected to ischaemia-reperfusion injury can be improved by modulation of myocardial NO synthesis, (2) inhibition of NO synthesis (with L-NAME or L-NMMA) may offer prolonged protection whereas its stimulation (with L-arginine) provides only brief protection, and (3) the reasons for the pharmacological effectiveness of these divergent strategies may be due to the formation of peroxynitrite from NO and superoxide anion during reperfusion.

Animals↗
PubMed1995

[Prognostic significance of changes in left ventricular diastolic function in follow-up of dilatative cardiomyopathy].

A total of 39 patients with idiopathic dilated cardiomyopathy (IDC) and sinus rhythm were examined for correlations between clinical course, systolic/diastolic cardiac function, and clinical status according to NYHA class (I-IV). Patients were divided in two groups: group 1 included survivors (n = 28, 49 +/- 11 years) and group 2 the nonsurvivors (n = 7) and transplanted patients (n = 4 transplanted; 48 +/- 10 years). Both groups were examined several times, and data at baseline were compared with those of the last examination. The follow-up period was about 3 years (group 1: 41 +/- 22 months, group 2: 24 +/- 13). Baseline conditions were defined at the time when the diagnosis of IDC was established. Diastolic cardiac function was evaluated by Doppler echocardiography parameters of early (VE) and late diastolic peak velocity (VA), the ratio of VE/VA and early deceleration time (EDT). Data for clinical symptoms (NYHA group 1: 2.5 +/- 0.9 vs. group 2: 2.7 +/- 1.3, NS) systolic [fractional shortening (FS) group 1: 0.17 +/- 0.06 vs. group 2: 0.16 +/- 0.06, NS], and diastolic function (VE, VA, VE/VA) showed no differences between the two groups. Only the EDT was significantly shorter in group 2 (group 1: 196 +/- 64 ms vs. group 2: 119 +/- 43 ms, P < 0.001) when diagnosis was established. During the follow-up period there was an improvement in both groups concerning NYNA class (group 1 from 2.5 +/- 0.9 to 1.9 +/- 0.7, P < 0.005; group 2 from 2.7 +/- 1.3 to 2.1 +/- 0.9, NS). There was a nonsignificant deterioration in systolic function in group 2 (FS, from 0.16 +/- 0.06 to 0.15 +/- 0.06, P = 0.07), which contrasted to an improvement in group 1 (from 0.17 +/- 0.06 to 0.20 +/- 0.08, P = 0.06). VE/VA increased in group 2 (from 1.24 to 1.67 +/- 1.21, P = 0.09) essentially due to a significantly increased VE (from 0.66 +/- 0.2 m/s to 0.85 +/- 0.27 m/s, P < 0.05). EDT remained shorter in group 2 (group 1.198 +/- 55 ms vs. 149 +/- 84 ms, P < 0.05). In conclusion, values of VE > 0.8 m/s, VE/VA > 1.6, and EDT < 150 ms during follow-up were predictors of poor prognosis in patients with IDC. Patients with a long EDT (> 150 ms) had a favorable prognosis for survival.

Adult↗
PubMed1995

[Analysis of postoperative seizure recurrence after 65 temporal lobe partial resections].

Sixty-five patients (aged between 3 years 5 months and 60 years) suffering from medically resistant temporal lobe epilepsy (TLE) were operated on over a period of 33 months in Bethel Epilepsy Center. Thirty-three patients had mesial TLE and 32 patients had TLE of different etiology. The postoperative follow-up lasted 2 years in 30 patients and was on average 13.2 months or at least 8 months in the 35 patients who did not have their last examination 2 years after surgery. Many of the patients (70.9%) were seizure-free; 92.3% achieved a rewarding improvement in seizure frequency and quality of life. Reduction of medication was the cause for relapse in 10 patients, in 6 patients incomplete resection, and in 5 patients the prognosis was not good even before surgery. The cause remained unclear in 4 patients. Freedom from seizures was achieved again by renewed medication or by repeated operation in 10 of 25 patients.

Adolescent↗
PubMed1995

[Pathophysiology of the "hibernating" myocardium].

Myocardial ischemia has traditionally been viewed as an imbalance between energy supply and demand. Within the first few seconds following an acute reduction of myocardial blood flow, energy demand of the hypoperfused myocardium clearly exceeds the reduced energy supply. However, this imbalance between energy supply and demand is an inherently unstable condition since ischemia induces mechanisms which are not yet understood, but reduce contractile function and thus energy demand. In the subsequent steady-state condition, the amount of contractile dysfunction is in proportion to the reduction of myocardial blood flow. A situation of persistent ischemic contractile dysfunction in viable myocardium which normalizes upon reperfusion has been termed myocardial hibernation. The metabolic status of such hibernating myocardium improves over the first few hours as myocardial lactate production is attenuated and creatine phosphate, after an initial reduction, returns towards control values. The hibernating myocardium can respond to an inotropic stimulation by dobutamine with increased contractile function, however, at the expense of a renewed worsening of the metabolic status. This situation of an increased regional contractile function at the expense of metabolic recovery during inotropic stimulation can be used to identify hibernating myocardium. The development of such delicate balance between regional myocardial blood flow and function during early ischemia is disturbed by unfavorable alterations in supply and demand. When after 5 min of ischemia, at a blood flow reduction compatible with the development of myocardial hibernation over 90 min, energy supply is further reduced by a further reduction of myocardial blood flow, necroses develop. Likewise, increasing energy demand by continuous inotropic stimulation with dobutamine induces necroses. Thus, both the further reduction in energy supply by an increasing severity of ischemia and an enhanced energy expenditure by continuous inotropic stimulation impair the development of myocardial hibernation and precipitate myocardial infarction. Hibernation over the first few hours of ischemia (short-term hibernation) is well characterized in animal experiments. Increased release of endogenous adenosine and activation of ATP-dependent potassium channels as the underlying mechanisms have been ruled out. The existence of hibernation over weeks or months (long-term hibernation) can only be inferred from clinical studies. In long-term hibernating myocardium morphological alterations occur. In myocardial biopsies from patients with prolonged contractile dysfunction which was reversible after bypass surgery, myofibrils are reduced in number and disorganized. Myocardial glycogen content as well as the extracellular collagen network are increased. Thus, despite the fact that the myocardium remains viable during persistent ischemia and contractile dysfunction is reversible upon reperfusion, there are severe morphological alterations. Understandably, full functional recovery following reperfusion can therefore require weeks or even months.

Animals↗
PubMed1995

[Therapy of Cheyne-Stokes respiration with nocturnal oxygen therapy].

Cheyne-Stokes respiration is common in patients with severe congestive heart failure and is associated with significant nocturnal oxygen desaturation and sleep disruption. The pathogenesis of Cheyne-Stokes respiration in patients with congestive heart failure has been well described and is related to prolonged circulation time between the lung and the carotid body mainly due to increased cardiac dimensions, reduced body stores of oxygen and carbon dioxide, disturbance of ventilation and respiratory control due to arousals and a relatively high hypercapnic ventilatory response. Oxygen is likely to reduce Cheyne-Stokes respiration by increasing oxygen and carbon dioxide stores and reduces the hypercapnic ventilatory response. In the following paper we describe a study designed to determine the impact of nasal nocturnal oxygen on Cheyne-Stokes respiration, sleep, peak oxygen consumption during bicycle exercise, cognitive function evaluated by the trailmaking test and daytime symptoms in patients with severe congestive heart failure. The study is designed as a randomized, cross-over, double-blind, placebo-controlled protocol on about 20 patients with a left ventricular ejection fraction < 35%.

Arousal↗
PubMed1995

Organization, management, and client effects on staff burnout.

Employee burnout is perceived to be a serious problem in human service organizations serving persons with severe mental illness. There has been considerable investigation of burnout and many of its possible causes, but little investigation of the role of client severity in relationship to burnout. Furthermore, theoretical models linking environmental context, organization structure, and management processes to burnout have seldom been proposed or examined. Building on our previous work, we employ a theoretical framework that conceptualizes environmental context, organization structure, management processes, client severity and staff characteristics as influencing work satisfaction and burnout. We examine this in a survey of 311 staff in 42 community mental health service organizations. Controlling for individual staff characteristics, results suggest that organization structure, culture, and management process are important to work environment and in turn to satisfaction and subsequently to burnout. Contrary to the literature, client severity was not associated with burnout nor to work dissatisfaction.

Burnout, Professional↗
PubMed1994

[Spontaneous echo contrast in the left ventricle as an indicator for an increased risk of thromboembolism].

A 69-year-old man with coronary heart disease complained of pain in his right flank. He had dyspnoea, cough and fever up to 38.8 degrees C. In addition to various positive indicators of inflammatory disease he had a creatinine concentration of 1.8 mg/dl and an increased activity of lactate dehydrogenase (1655 U/l). The chest radiograph demonstrated pneumonia and computed tomography showed an infarct in the right kidney. The ECG indicated atrial fibrillation with an irregular ventricular rate and left bundle branch block. Echocardiography demonstrated dilatation of the left ventricle and a thrombus adherent to the wall. Transoesophageal echocardiography additionally recorded spontaneous type I echo-contrast, which disappeared after therapeutic heparinization. Cerebral infarctions were shown by computed tomography, undertaken because of neurological symptoms. There were also signs of silent myocardial ischaemia. As a coronary artery bypass operation was contraindicated, percutaneous transluminal balloon angioplasty was attempted but dissection occurred, causing irreversible cardiogenic shock of which the patient died.

Aged↗
PubMed1994

Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We present the first report of prenatal diagnosis of SLOS-II, as well as an additional report of prenatal detection of multiple anomalies, in which a positive diagnosis of SLOS II was made postnatally. In neither case was the pregnancy known prospectively to be at risk for SLOS-II. In the former case, targeted sonographic examination at 31 weeks of gestation showed intrauterine growth retardation, atrioventricular septal defect, mesomelic shortening of the arms, small kidneys, overlapping fingers, and female external genitalia; a 46,XY chromosome constitution had been ascertained previously. A provisional diagnosis of SLOS-II was made prenatally. In the latter case, targeted sonographic examination at 18 weeks of gestation showed severe oligohydramnios, atrioventricular septal defect, and Dandy-Walker malformation. The kidneys and bladder were not visualized. The chromosome constitution was 46,XX. The diagnosis of SLOS-II was made postnatally. In both cases, additional findings compatible with SLOS-II were noted postnatally. Prenatal detection of congenital heart defects and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately short limbs, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS-II, and warrants further investigation.

Abnormalities, Multiple↗