Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.

BACKGROUND: Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in-person assessment can be unavailable or burdensome. The current study compares in-person and remote assessments of the Penn computerised neurocognitive battery (CNB). METHODS: Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in-person at a laboratory (n = 222) or remotely (n = 162). RESULTS: Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks. CONCLUSIONS: These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains.

Influence of gestational diabetes mellitus on neonatal weight outcome in twin pregnancies.

AIMS: To evaluate the influence of gestational diabetes mellitus on neonatal birthweight, macrosomia and weight discrepancy in twin neonates. METHODS: An observational retrospective study was performed. One hundred and six women with gestational diabetes and twin pregnancy and 166 twin controls who delivered viable fetuses > 24 weeks were included. Impact of maternal pre-pregnancy BMI, smoking habit, method of conception, chorionicity, gestational age at delivery, mode of delivery and hypertensive complications were also analysed. The effect of maternal hyperglycaemia and metabolic control in gestational diabetes pregnancies was assessed. RESULTS: Gestational hypertension and pre-eclampsia were significantly higher in the group with gestational diabetes (21.5% vs. 6.3%, P = 0.007 and 6.2% vs. 0%, P = 0.025). There were no differences in the incidence of macrosomia (5.7% vs. 7.2%, P = 0.803), large for gestational age (10.3% vs. 13.2%, P = 0.570), small for gestational age (10.3% vs. 12.0%, P = 0.701), severely small for gestational age (6.6% vs. 7.8%, P = 0.814) or weight discrepancy (20.6% vs. 15.2%, P = 0.320) in the group with gestational diabetes compared with twin pregnancies without diabetes. There were no differences when comparing insulin-requiring gestational diabetes pregnancies and twins without diabetes for any of the neonatal weight outcomes. There was no relationship between third trimester HbA1c and neonatal birthweight or infant birthweight ratio. CONCLUSION: Gestational diabetes did not increase the risk of macrosomia or weight discrepancy of twin newborns. Furthermore, glycaemic control did not influence the rate of any of the weight outcomes in our study population. In twin pregnancies, gestational diabetes was associated with a higher risk of gestational hypertension and pre-eclampsia.

Competent chick ectoderm: nonspecific response to RNA.

Presumptive chick neuroectoderm responds to RNA from brain and heart by forming neural tubes, but it does not respond to liver RNA. This dif ferential response can be correlated with the presence of Folin-positive material in those RNA preparations which elicit the formation of neural structures.

Paroxysmal nocturnal hemoglobinuria associated with the acquired immunodeficiency syndrome.

Pancytopenia is a well-recognized manifestation of clinical illness related to human immunodeficiency virus infection. The mechanism of this has been debated, but has been thought to relate either to a nonspecific marrow suppressive effect of opportunistic infections, or to direct involvement of bone marrow hematopoietic precursors as a target of human Immunodeficiency virus. We report the unique temporal association of the acquired immunodeficiency syndrome and paroxysmal nocturnal hemogloblnuria.

Protein deprivation in primates. X. Test performance of juveniles born of deprived mothers.

Forty juvenile rhesus monkeys whose mothers were fed semisynthetic diets containing 13.4, 6.7, or 3.35% protein during pregnancy were tested as juveniles on four tests of perceptual-discrimination learning. All juveniles were well fed since birth. No significant differences in proficiency due to diet could be detected. It is concluded that thanks to the mother's proficient adaptation to the diet the fetus is well protected, and not deprived.

In acute lung injury, inhaled nitric oxide improves ventilation-perfusion matching, pulmonary vascular mechanics, and transpulmonary vascular efficiency.

Acute respiratory distress syndrome continues to be associated with significant morbidity and mortality related to ventilation-perfusion mismatch, pulmonary hypertension, and right ventricular failure. It has been suggested that inhaled nitric oxide, which is a selective pulmonary vasodilator, may be effective in the treatment of acute respiratory distress syndrome; however, the effects of nitric oxide on cardiopulmonary interactions are poorly understood. We therefore developed a model of acute lung injury that mimics the clinical syndrome of acute respiratory distress syndrome. In our model, inhaled nitric oxide significantly reduced pulmonary artery pressure, pulmonary vascular resistance, and pulmonary vascular impedance. In addition, inhaled nitric oxide improved transpulmonary vascular efficiency and ventilation-perfusion matching, which resulted in increased arterial oxygen tension. Although arterial oxygen tension increased, oxygen delivery did not improve significantly. These data suggest that by improving ventilation-perfusion matching and arterial oxygen tension while lowering pulmonary vascular resistance and impedance, nitric oxide may be beneficial in patients with acute respiratory distress syndrome. However, additional measures to enhance cardiac performance may be required.

Inhaled nitric oxide, right ventricular efficiency, and pulmonary vascular mechanics: selective vasodilation of small pulmonary vessels during hypoxic pulmonary vasoconstriction.

OBJECTIVE: In the setting of acute pulmonary artery hypertension, techniques to reduce right ventricular energy requirements may ameliorate cardiac failure and reduce morbidity and mortality. Inhaled nitric oxide, a selective pulmonary vasodilator, may be effective in the treatment of pulmonary artery hypertension, but its effects on cardiopulmonary interactions are poorly understood. METHODS: We therefore developed a model of hypoxic pulmonary vasoconstriction that mimics the clinical syndrome of acute pulmonary hypertension. Inhaled nitric oxide was administered in concentrations of 20, 40, and 80 ppm. RESULTS: During hypoxic pulmonary vasoconstriction, the administration of nitric oxide resulted in a significant improvement in pulmonary vascular mechanics and a reduction in right ventricular afterload. These improvements were a result of selective vasodilation of small pulmonary vessels and more efficient blood flow through the pulmonary vascular bed (improved transpulmonary vascular efficiency). The right ventricular total power output diminished during the inhalation of nitric oxide, indicating a reduction in right ventricular energy requirements. The net result of nitric oxide administration was an increase in right ventricular efficiency. CONCLUSION: These data suggest that nitric oxide may be beneficial to the failing right ventricle by improving pulmonary vascular mechanics and right ventricular efficiency.

Supraarterial decompression myotomy for myocardial bridging in a child.

A 10-year-old boy presented with a history of exertional chest pain. An electrocardiogram demonstrated an inferior apical myocardial infarction. Cardiac catheterization revealed myocardial bridging of the left anterior descending coronary artery with evidence of intramyocardial obstruction during systole. The patient underwent successful treatment with supraarterial decompression myotomy and remains symptom free at 1 year.

Method for creation of the aortotomy site for saphenous vein grafts.

Saphenous vein coronary artery bypass grafting requires a proximal anastomosis of the vein to the aorta. A variety of techniques have been described to create the aortotomy. We have developed a four-sided knife (Xcision Scalpel; patent pending, Research Medical, Inc, Midvale, UT) that facilitates the creation of a more uniform circular aortotomy. The purpose of this communication is to describe the knife and the technique for its use.

Acquired cystic disease of kidney associated with renal cell carcinoma in chronic dialysis patients.

We describe 2 cases of acquired cystic disease of the kidney (ACDK) associated with renal cell carcinoma in patients treated with long-term hemodialysis. Both patients have had dialysis for five and eight years, respectively. Renal cell carcinomas of these patients are small, averaging 2 cm in diameter. They are clear cell type. Atypical epithelial hyperplasia arising from cystic areas can be seen intermingling with carcinoma. This confirms that atypical epithelial hyperplasia is a precursor of renal cell carcinoma. Although the incidence of renal cell carcinoma arising in ACDK is on the rise, the issue of how to manage patients with ACDK remained unsettled and required further study.

Contrast echocardiography: influence of ultrasonic machine settings, mixing conditions, and pressurization on pixel intensity and microsphere size of Albunex solutions in vitro.

To use Albunex as a blood-flow tracer, the stability and consistency of microspheres under mixing conditions must be known. This study examined the effects of mixing conditions and machine settings on the size and echogenicity of Albunex solutions in vitro. Acoustic power, log compression, time-gain compensation, and transducer frequency were varied as Albunex solutions were imaged after mixing with magnetic stirring and pressurized. Higher acoustic power and lower transducer frequency decreased mean pixel intensity of Albunex solution images over time. Intensity, size, and number of Albunex microspheres were not significantly different between stirring speeds. The echogenicity of the Albunex solutions decreased with pressurization, and the critical pressure necessary to reduce the intensity to half its initial value increased with the logarithm of concentration (r = 0.91; p < 0.001). The microsphere size decreased with pressurization and remained smaller after pressure release (3.66 +/- 2.13 versus 1.47 +/- 0.95 microns; p < 0.01). These data indicate that acoustic power and transducer frequency may affect the physical properties of Albunex microspheres, decreasing mean videointensity. Pressure sensitivity of Albunex caused the decrease of videointensity and microsphere size.

Efficacy of octreotide in the regression of a metastatic carcinoid tumour despite negative imaging with In-111-pentetreotide (Octreoscan).

We present the case of a 52-year old patient diagnosed with carcinoid tumour of the rectum with liver metastases in which treatment with somatostatin analogues (octreotide) proved very effective in the disappearance of the symptomatology and dramatic efficacy in the regression of the tumour. Imaging by octreoscan was always negative. The role of octreotide in the treatment of carcinoid tumour and the usefulness of In-111-pentetreotide (octreoscan) in the localization and prediction of the response to treatment with octreotide is discussed. We conclude that the negative result of the scintigraphic image with octreoscan does not necessarily suppose the inefficacy of octreotide treatment. We believe that this may constitute an important issue since some patients may be denied octreotide treatment in the absence of a positive octreoscan result.

Decreased heart-period variability in patients with panic disorder: a study of Holter ECG records.

This study investigated cardiac autonomic function in patients with panic disorder and normal controls using Holter ECG records. A decrease in ultra-low frequency power (< 0.0033 Hz) is known to be associated with an increased risk for cardiovascular mortality in humans. Twenty-four-hour ECG was recorded in 29 patients with panic disorder and 23 normal controls using Holter records. Data for 20 h and also 20000 s of awake and 20000 s of sleep periods were analyzed using spectral analysis to quantify absolute and relative heart-period variability in ultra low (ULF: < 0.0033 Hz), very low (VLF: 0.0033-0.04 Hz), low (LF: 0.04-0.15 Hz) and high (HF: 0.15-0.5 Hz) frequency bands. The patients with panic disorder had significantly lower total and absolute ULF power, which was more pronounced during sleep. The patients also had significantly lower relative ULF power and significantly higher relative LF power during sleep. There was a significant increase of relative LF power from awake to sleep period only in the patient group. The decrease in total and ULF power may increase the risk of mortality and sudden arrhythmic death in patients with panic disorder if they experience a cardiac event. The higher relative LF power during sleep also suggests a possible higher sympathetic drive in the patients during sleep.

Resection of Kommerell's diverticulum and left subclavian artery transfer for recurrent symptoms after vascular ring division.

OBJECTIVES: A Kommerell's diverticulum in patients with a right aortic arch may become aneurysmal and be an independent cause of tracheoesophageal compression, even after ligation and division of a left ligamentum. We review the indications for and results of Kommerell's diverticulum resection and left subclavian artery transfer in children with a right aortic arch who previously underwent vascular ring (ligamentum) division. METHODS: From 1998 through 2001, eight children have been referred with recurrent respiratory symptoms (n=8) and/or recurrent dysphagia (n=4) after vascular ring division. Each child had a right aortic arch with a left ligamentum and had undergone division of the ligamentum elsewhere. All had a Kommerell's diverticulum that was not addressed at the initial operation. All patients had a repeat left thoracotomy with resection of the diverticulum. Five patients had division and reimplantation of the left subclavian artery into the left carotid artery to relieve the sling-like effect of the retroesophageal left subclavian artery on the right aortic arch. One other patient had primary Kommerell's diverticulum resection and transfer of the left subclavian artery to the left carotid artery. RESULTS: The mean age at the initial operation was 1.7+/-0.9 years, and the mean age at reoperation was 8.0+/-3.7 years. In all patients postoperative bronchoscopy confirmed relief of the tracheal compression. There were no complications related to the subclavian artery transfer. Two patients developed postoperative chylothorax, one requiring thoracic duct ligation. The median hospital stay was 5 days. All patients had dramatic resolution of their preoperative symptoms. CONCLUSIONS: Kommerell's diverticulum is an important anatomic structure that can cause recurrent symptoms in patients with a right aortic arch after ligamentum division. In selected patients, reoperation with resection of the Kommerell's diverticulum and transfer of a retroesophageal left subclavian artery results in relief of symptoms. This technique has become our procedure of choice as a primary operation for children with a right aortic arch and a significant Kommerell's diverticulum.

The effects of dehydration on the dynamics of transcapillary refill.

Since the water reserve of the interstitium plays a major role in circulatory homeostasis, its reduction by dehydration may produce severe changes in the organism's response to hemorrhage but this has not been measured experimentally. Twelve immature pigs (22 +/= 2 Kg) were divided into two groups of six each. Control animals had free access to food and water prior to bleeding. Dehydrated animals had water withheld for 48 hours preceding the bleeding. All animals were bled 30 per cent of their calculated blood volumes while awake. No resuscitation was performed. No mortality was observed in the control group of animals, while four of the six dehydrated animals died (66%). All deaths occurred between one and four hours posthemorrhage. Plasma refill reached 33 per cent by 0.5 hours in the control group compared to only 17 per cent by 0.5 hours in the dehydrated group (p less than or equal to .05). Refill in the control group reached 50 per cent by three hours, whereas dehydrated animals surviving to three hours demonstrated no further refill (p less than or equal to .05). BUN, calcium, sodium, and osmolality were consistently higher in dehydrated than control animals (p less than or equal to .05). It is concluded that a reduction in the interstitial water reserve significantly impairs ability to recover from hemorrhage.

Carcinoma of the lung and coexistent active pulmonary tuberculosis: diverse morphologic and radiographic presentations.

Five patients with coexistent carcinoma of the lung and active tuberculosis within the same pulmonary lesion were studied. These cases represent five distinctly varying radiographic presentations and point out the extreme diversity of the morphological pictures of this particular disease combination. Physicians who regularly deal with patients who might present with either entity alone are cautioned to be alert to the possibility that these two diseases may be present simultaneously within single, specific pulmonary lesions.

Adolescent depression: relationships of self-report to intellectual and adaptive functioning.

Self-report measures of depression, general psychopathology, and social skills were administered to adolescents ranging from moderate mental retardation to above normal intelligence. Adolescents with mental retardation reported more depression and general psychopathology symptoms. Variance and regression analyses demonstrated distinctions on the basis of mental retardation status for individual measures. Additional analyses identified differences between individuals with above normal intelligence and individuals with mild mental retardation on the basis of depression specifically. Adaptive behavior functioned as a moderator variable, mediating the relationship between depression and intellectual functioning.

[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]. / Caracterización de las mutaciones del gen de la esteroide 21-hidroxilasa en una forma oligosintomática de hiperplasia suprarrenal congénita: estudio familiar.

BACKGROUND: 21-hydroxilase deficiency accounts for over 90% of all cases of congenital adrenal hyperplasia (CAH). There is a non-negligible incidence of both severe and nonclassical forms of this genetic disorder. Enzyme deficiency is due to mutations in the gene encoding adrenal 21-hydroxylase (named CYP 21B) and is inherited in an autosomical recesive way. Complete or partial impairment of enzyme activity has been correlated with the different clinical forms of the disease. PATIENTS AND METHODS: In the present paper CYP 21B gene analysis results obtained in a family with two kindred affected by a nonclassical form of the disease are shown. Clinical assessment of these two kindred showed a very mild form of the disease, whereas biochemical results suggested a late-onset partial 21-hydroxylase deficiency. Genotyping for deletions and 10 point mutations in the CYP 21B gene was performed by Southern blot analysis and polymerase chain reaction (PCR) allele-specific oligonucleotide (ASO) hybridation technique. RESULTS: Molecular genetic analysis performed in the two affected patients and two further relatives allowed us to detect the presence of different mutations in the two alleles of the CYP 21B gene. One of these mutations was severe (655G) and came from maternal line, whereas the other was mild (Val281Leu) and originated in paternal line. CONCLUSION: Molecular genetic analysis allows the possibility of finding severe (and non-expected) mutations in patients with clinically mild and late-onset forms of the 21-hydroxylase deficiency.

[Critical analysis of the evolution of commercial preparations for enteral nutrition during 1988-1996]. / Análisis crítico de la evolución de los preparados comerciales enterales en el período 1988-1996.

Enteral nutrition is a form of nutritional support that is continually growing and expanding, and within this area especially the enteral preparations or formulae. The object of the present is to analyze the evolution of the commercially available nutritionally complete enteral preparations between 1988 and 1997, illustrating the variations that have occurred both from the quantitative and form the qualitative points of view. A progressive increase is seen in the absolute number of available enteral formulae, with the increase in both polymeric formulae with dietary fiber, and that of formulae designed for specific diseases being significant (p < 0.05). The standard polymeric formulae and the oligomeric formulae decrease, but not in a significant manner. There is a special discussion or the characteristic and the usefulness of the polymeric formulae with dietary fiber ad the formulae designed especially for specific diseases. The clinical efficacy of most of these special formulae is controversial, with there not being sufficient objective clinical evidence at present that justifies their routine use.

[Nutritional management of radiation-induced enteritis: apropos of a case]. / Manejo nutricional en la enteritis rádica: a propósito de un caso.

We present a case of a 46-year-old woman who is hospitalized in March of 1997 for a picture of severe mixed malnutrition. We describe the clinical history since the diagnosis of an endometrium carcinoma in 1995, treated with radiation therapy, with the aim of determining the etiology of the severe malnutrition picture, as well as the different complications she presented in the course of her hospitalization that justify the decisions made in the choice of the nutritional support.