Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Cardiac output and regional oxygen transport in the acutely hypoxic conscious sheep.

We have studied the effects of severe acute hypoxemia (PaO2 = 25 torr) on cardiac output (Q), heart rate (HR), left ventricular contractility ((dP/dt)max/P), intravascular pressures and blood flow to the heart, brain, abdominal viscera, skin and respiratory and non-respiratory muscles in twelve conscious ewes that breathed a mixture of 8% O2 and 92% N2 for 20 min. Q, HR, (dP/dt)max/P) and systemic and pulmonary arterial pressures increased. Total peripheral resistance decreased while pulmonary vascular resistance remained unchanged.

Effects of acute hypercapnia on the central and peripheral circulation of conscious sheep.

We studied the cardiorespiratory effects of acute hypercapnia in 10 unanesthetized sheep. After a 15-min exposure to either 7.3 or 10% CO2 in air, we measured arterial blood gases, minute ventilation (VE), O2 consumption (VO2), cardiac output (Q), heart rate (HR), an index of left ventricular contractility [(dP/dt)/P], and vascular pressures.

Pulmonary and circulatory changes in conscious sheep exposed to 100% O2 at 1 ATA.

We have measured the effects of normobaric hyperoxia on arterial and mixed venous gas tensions, cardiac output, heart rate, right atrial, pulmonary, and aortic pressures in 12 conscious chronically instrumented sheep. Regional blood flow to brain, heart, kidney, intestines, and respiratory muscles was assessed in five sheep by injecting 15-micrometers microspheres labeled with gamma-emitting isotopes. Survival time ranged from 60 to 120 h (mean = 80 h).

Effects of hyperventilation on pulmonary blood flow and recirculation time of humans.

We used direct invasive techniques to measure the effects of hyperventilation on the pulmonary blood flow (Q) and on recirculation time of helium and of carbon dioxide in humans. The subjects hyperventilated with a tidal volume of 1.5 liters (BTPS) and a frequency of 20 or 30 breaths/min.

Cardiac output determination by simple one-step rebreathing technique.

We have developed a rebreathing technique for measuring cardiac output in resting or exercising subjects. The data needed are the subject's CO2 dissociation curve, the initial volume and CO2 fraction of the rebreathing bag, and a record of CO2 at the mouth during the maneuver. From these one can obtain all the values required to solve the Fick equation.

Pulmonary function in tropical eosinophilia before and after treatment with diethylcarbamazine.

Spirometric and lung volume measurements were carried out before and after treatment with diethylcarbamazine in 19 patients with tropical eosinophilia. The total lung capacity and vital capacity returned to or nearly to normal while the FEV1 and PEFR, though improved, tended to remain below normal, indicating some residual airways obstruction especially in patients whose treatment began more than one month from the onset of symptoms. The time taken for the pulmonary function to return to normal with treatment was found to be much longer than for the clinical and haematological response.

Pulmonary function in tropical eosinophilia.

Pulmonary function studies were carried out on 23 patients with tropical eosinophilia. These showed an obstructive ventilatory defect in patients with symptoms for less than one month, and a restrictive ventilatory defect in addition to obstruction in those with symptoms for one to four months. These findings are correlated with the pathological changes observed by other workers in patients suffering from tropical eosinophilia.