Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
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Biomedical subjects
Publications and source records attributed to M Mokhtari.
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Bronchiolitis obliterans with organizing pneumonia (BOOP) is an infrequently encountered clinical condition that can mimic a number of other pathologic lung processes. The presentation of this treatable condition in cancer patients has not been described in any large series. We conducted a retrospective study of patients with BOOP at Memorial Sloan-Kettering Cancer Center, NewYork, NY, U.S.A. from January 1992 to December 1999. The type and treatment of primary cancer, clinical and radiographic features of initial BOOP presentation, and outcome following therapy were recorded. Forty-three patients with an underlying diagnosis of cancer were found on lung biopsy to have BOOP as an isolated entity. BOOP was encountered in patients with a variety of clinical presentations, and many types of malignancies. The symptom patterns were non-specific, as were the physiological abnormalities. The only clear relationship between the underlying malignancyand the diagnosis of BOOP at presentation was in the chest radiographic findings. Patients with solid organ tumors were more likely to have nodular or mass like radiographic abnormalities (81%) than to have diffuse infiltrates (19%). We observed the opposite pattern in patients with hematologic malignancies (22% vs.67%). The vast majority of patients recovered from this condition. In conclusion, For cancer patients, BOOP represents a treatable cause of lung disease with protean manifestations. BOOP can mimic pulmonary malignancy and pulmonary infection. In cancer patients, the evaluation of new pulmonary symptoms accompanied by radiographic changes should include a consideration of this diagnosis.
BACKGROUND: The prognosis for mediastinitis after cardiac operation has improved during the last two decades, but most series do not include patients who already have a major postoperative complication when the infection developed. METHODS: Our 9-year prospective study of 371 consecutive patients with mediastinitis compared the characteristics of patients admitted to the intensive care unit primarily for mediastinitis with those who developed mediastinitis after intensive care unit admission for severe postoperative organ failure. RESULTS: We identified 323 (87%) primary and 48 (13%) secondary mediastinitis patients. The incubation time for mediastinitis was longer for secondary mediastinitis patients, despite similar initial operations. Staphylococcus aureus was responsible for approximately 60% of the episodes in both groups; however, the incidence of methicillin resistance was 2.5 times higher in secondary mediastinitis patients (p < 0.0001). The mediastinitis cure rate was similar for both groups. However, intensive care unit mortality (63% versus 21%), duration of mechanical ventilation (40 versus 9 days), and length of intensive care unit stay (53 versus 28 days) were significantly higher for secondary mediastinitis patients (p < 0.0001). CONCLUSIONS: The presence of a prior major postoperative complication does not alter the cure rate of mediastinal infections, but does greatly reduce the survival rate.
Intensive care unit (ICU) caregivers should seek to develop collaborative relationships with their patients' family members, based on an open exchange of information and aimed at helping family members cope with their distress and allowing them to speak for the patient if necessary. We conducted a prospective multicenter study of family member satisfaction evaluated using the Critical Care Family Needs Inventory. Forty-three French ICUs participated in the study. ICU characteristics, patient and family member demographics, and data on satisfaction were collected. Factors associated with satisfaction were identified using a Poisson regression model. A total of 637 patients were included in the study, and 920 family members completed the questionnaire. Seven predictors of family satisfaction were found: one family-related factor, namely, family of French descent and six caregiver-related factors, namely, no perceived contradictions in information given by caregivers; information provided by a junior physician; patient to nurse ratio </= 3; knowledge of the specific role of each caregiver; help from the family's own doctor; and sufficient time spent giving information. Predictors of satisfaction are amenable to intervention and deserve to be investigated further with the goal of improving the satisfaction of ICU patients' family members.
STUDY OBJECTIVES: Pulmonary complications occur in half of allogeneic bone marrow transplantation (BMT) patients. The incidence of these complications has been reduced by prophylaxis against Pneumocystis carinii pneumonia, preemptive therapy in patients at high risk for cytomegalovirus (CMV) reactivation, and, more recently, screening for serum CMV antigen. Since fiberoptic bronchoscopy (FOB) has historically been the primary diagnostic test to evaluate BMT patients with pulmonary disease, a review was performed to determine the impact, if any, that current prophylaxis and screening policies may have had on FOB utility. DESIGN: The records of 174 adult patients undergoing BMT between January 1997 and December 1999 were reviewed to determine the diagnostic yield of FOB and the frequency by which FOB altered management. RESULTS: Sixty-one patients underwent 76 bronchoscopies. FOB was diagnostic in 32 patients (42.1% of cases) and directly changed management in 24 patients (31.6% of cases). Half of these changes included the withdrawal of an antimicrobial agent. The most common findings were infection (32 cases) and diffuse alveolar hemorrhage (6 cases). CMV was the most prevalent infection identified, but FOB resulted in the addition of antiviral therapy to only two patients. P carinii pneumonia was not diagnosed in any patient studied. CONCLUSIONS: These data suggest a changing spectrum of pulmonary disease in BMT patients. FOB has limited impact on the diagnoses of CMV disease or P carinii pneumonia with current prophylaxis and screening strategies. It may be useful in identifying other infectious etiologies and in eliminating unnecessary antimicrobials.
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The 3D orientation of the hand for grasping was studied while subjects reached for objects placed at several locations on a horizontal board, with movements starting from three initial hand positions. The hand movements were recorded with electromagnetic sensors giving 3D position and orientation information. The study focused on the azimuth, which is the projection of the hand orientation in a horizontal plane. The hand azimuth for grasping was linearly correlated with the direction of the reaching movement and not with the object direction in head- or shoulder-centered coordinates. This relationship was valid regardless of the initial hand position. A control experiment with constant movement direction showed a weaker, probably postural, effect of object direction in shoulder-centered coordinates. We suggest that hand orientation for grasping is mainly controlled in relation to the reaching movement direction.
The aim of this study was to assess late results of percutaneous mitral commissurotomy (PMC) in calcific mitral stenosis and to identify predictors to improve patient selection. We analyzed 422 patients who underwent PMC for calcific mitral stenosis. The extent of calcium was graded from 1 to 4 by fluoroscopy: 227 patients (53%) were graded 1, 125 (30%) graded 2, 55 graded 3 (13%), and 15 graded 4 (4%). The procedure failed in 15 patients, used a single balloon in 11, a double balloon in 126, and the Inoue balloon in 270. In-hospital mortality was 1.2%. Good immediate results (valve area >/=1.5 cm(2) without mitral regurgitation >2/4), were obtained in 321 patients (76%). Multivariate analysis identified 5 predictors of good immediate results: a younger age (p = 0.0004), a lesser degree of stenosis (p = 0.0005), a smaller extent of calcium (p = 0.04), the use of the Inoue balloon (p = 0.015), and a larger effective balloon dilating area (p = 0.006). Good functional results, defined as survival with no further intervention and in New York Heart Association class I or II, were 36 +/- 4% at 8 years. The predictors of good functional results after good immediate results were a younger age (p = 0.04), a lower pre-PMC New York Heart Association class (p <0.0001), sinus rhythm (p = 0.0006), a smaller extent of calcium (p = 0.02), and a lower gradient after PMC (p <0.0001). Despite a frequent deterioration on follow-up after PMC for calcific mitral stenosis, the predictive analysis suggests that PMC may be useful in deferring surgery in selected patients with mild to moderate calcific deposits, who have otherwise favorable characteristics.
The kinematics of the human arm in terms of angles of rotations in the joints is reconstructed from the spatial tracking system (Fastrack() Polhemus) recordings. The human arm is modeled by three rigid bodies (the upper arm, the forearm and the hand) with seven degrees of freedom (three in the shoulder, two in the elbow and two in the wrist). Joint geometry parameters (orientations of the axes relative to the arm segments, the angles and the distances between the axes) have been calculated on the basis of passive rotations in the joints. The calculated parameters have been used to solve the direct kinematics problem for the reaching movements in different directions. The difference between calculated and recorded positions and accelerations of the hand has been used to assess the accuracy of the proposed method of kinematics reconstruction. The error analysis showed that spatial tracking system recordings and human arm kinematics reconstruction could reliably be used to accurately analyze multijoint movement in humans.
OBJECTIVES: To estimate the radiation-related risk associated with twelve imaging programs available on the Orthophos (Siemens, Erlangen, Germany) dental panoramic radiography unit. METHODS: Organ absorbed doses for each program were measured using a Rando anthropomorphic phantom loaded with thermoluminescent dosemeters. Effective dose (E) was calculated in two ways; first, using the method recommended by the International Commission on Radiological Protection, which excludes the salivary glands (designated Eexc), and second, with its inclusion (designated Einc). Organ and effective doses were both used to compare the various imaging programs. RESULTS: In 11 of the 12 programs studied the salivary glands received the highest individual organ dose, and Einc was found to be up to double Eexc. When the image was restricted to the dentition (program 2) organ doses were lower than for the complete jaws (program 1) by up to 85%, and Eexc and Einc reduced by about one half. When programs 2 and 6 (to image the temporomandibular joints) are used in place of program 1, the former combination provides more image information at an equivalent risk. CONCLUSIONS: The value of E in panoramic radiography depends on the inclusion of the salivary glands in the calculation and the magnitude of the dose.
OBJECTIVE: To study the pharmacokinetics of flunitrazepam (used for sedation in neonates and infants), to determine the influence of both gestational and postnatal age on the pharmacokinetic parameters, and to analyze the relationship between the hemodynamic parameters and flunitrazepam plasma concentration. METHODS: Flunitrazepam was infused for 20 minutes as a single dose (0.2 mg x kg(-1)) and as multiple doses (0.1 mg x kg(-1)). Six to eight 1-mL blood samples were collected per patient. Flunitrazepam plasma concentration was measured by gas chromatography-mass spectrometry. RESULTS: Thirty-one patients (25 neonates and six infants) were included in the study. Only three of them received multiple doses. After the single dose (n = 28), half-life was 22.6 +/- 7.3 hours, clearance was 0.15 +/- 0.14 L x kg x h(-1), and volume of distribution was 4.6 +/- 4.1 L x kg(-1) (mean +/- SD). Plasma clearance and volume of distribution significantly increased with postnatal age (P < .05), but no pharmacokinetic parameter varied significantly with gestational age. Diastolic blood pressure significantly decreased with increasing flunitrazepam plasma concentrations (P < .05). CONCLUSION: Postnatal age but not gestational age influenced flunitrazepam pharmacokinetic parameters in neonates and infants. Diastolic blood pressure was inversely correlated to flunitrazepam plasma concentration.
AIM: This study compared the shear bond strengths, to bovine enamel and dentine, of composite resin bonded using an established bonding agent (Syntac) and the more recent Syntac SC. METHOD: A total of 24 adult bovine incisors were divided into two equal groups and prepared by roughening the enamel surfaces with a medium-grit, high-speed diamond. The enamel was etched and 24 x 5 mm diameter composite discs were light-cured and bonded using Syntac and 24 using Syntac SC, following the manufacturer's instructions. The samples were shear tested 72 hours later at a crosshead speed of 50 mm/min using a Howden Universal Testing Machine. The labial enamel and 1 mm of dentine were removed and the experiment was repeated. RESULTS: The mean shear bond strengths (MPa) for the Syntac and Syntac SC bonded composite to enamel were 10.9 +/- 4.5 and 8.9 +/- 5.7, and to dentine 6.4 +/- 3.2 and 5.5 +/- 3.1, respectively. The differences between the values for each material on enamel and between each material on dentine were not significant (P > 0.01). However, nine (19%) Syntac SC bonded composite discs debonded during build-up and had to be remade, prior to testing. CONCLUSION: When a bond between composite and resin was achieved, no significant difference was found between the mean shear bond strengths of Syntac and Syntac SC bonded composite to either enamel or dentine. However, lack of composite adherence to the Syntac SC was noted during the preparation of specimens.
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BACKGROUND: Two methods of selective ventilation have been used for treating severe localized pulmonary emphysema in the neonates: controlateral selective intubation and selective bronchial obstruction. CASE REPORTS: Three neonates with acute respiratory distress required respiratory support that was complicated by development of severe localized pulmonary interstitial emphysema of the right lobe (two cases) and the middle lobe (one case). Selective bronchial obstruction with a Swann Ganz catheter SF was tentatively made: in one case, improvement was moderate and transitory, requiring middle lobectomy. The localized emphysema disappeared within 3 days in the two other cases but a localized emphysema appeared in the controlateral lung in one of them, requiring left inferior lobectomy because the ineffectiveness of selective intubation or selective obstruction. CONCLUSION: Selective bronchial obstruction may fail but this easy and well tolerated method should be tried in severe localized emphysema, specially in those patients who cannot be ventilated with high-frequency oscillation.
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BACKGROUND: Neonatal alloimmune thrombocytopenia (NAIT) in the HPA-3a system is responsible for less than 5% of all cases of NAIT. CASE REPORT: Thomas, a male infant, was born at 39 weeks of gestation after an uncomplicated pregnancy. Delivery was normal. The Apgar score was 9 at 1 minute, and 10 at 5 and 10 minutes. At 1 hour of age, he displayed extensive petechiae and purpura over the back. The platelet count was 8,000/mm3. Hematesis and extensive petechiae were noted, leading to an exchange transfusion followed by a transfusion of 0.5 U/kg of random donor platelets, 0.4 g/kg/d of intravenous immunoglobulin (IVIg) and 10 mg/kg/d of corticosteroids. IVIg were discontinued on d5 and corticosteroids on d10. There was no relapse of thrombocytopenia. A neonatal alloimmune thrombocytopenia with an HPA-3a (Baka) incompatibility was confirmed. CONCLUSION: HPA-3a incompatibility is certainly more frequent than the rare cases reported and must be searched for in all cases of neonatal thrombocytopenia.
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The in vivo binding properties of cerebral opioid receptors were investigated in mice after intracerebroventricular (i.c.v.) injections of iodinated FK33-824 and [D.Ala2]deltorphin-I which behave in vitro as highly selective ligands possessing high affinity for mu and delta receptors, respectively. [125I]FK33-824 and [125I][D.Ala2] deltorphin-I exhibited similar diffusion kinetics after i.c.v. injection and bound specifically to sites characterized pharmacologically as mu and delta receptors respectively. Autoradiographic analysis revealed that after i.c.v. administration, concentrations of [125I]FK33-824 and [125I][D.Ala2]deltorphin-I remained higher in the circumventricular than in the deep structure of the brain and that specific sites labelled in vivo were differently distributed from those observed after in vitro labelling. FK33-824 was 250 times more analgesic than [D.Ala2]deltorphin-I in the tail-flick test and at doses producing a similar analgesia, [D.Ala2]deltorphin-I occupied a high proportion of mu receptors. Furthermore, analgesic effect of [D.Ala2]deltorphin-I was antagonized by pretreatment with naltrexone but not by naltrindole, a selective antagonist of delta-opioid receptors. These experiments reveal the localization of mu and delta opioid receptors reached after i.c.v. injection and provide evidence to support the suggestion that delta-opioid receptors contribute little or none to the supraspinal antinociception.