Genotype and allelic frequencies of a newly identified mutation causing blindness in jordanian awassi sheep flocks.

A total of 423 blood samples were collected (during 2009 and 2010) from all the ram holdings at three major Jordanian governmental Awassi breeding stations (Al-Khanasry, Al-Mushairfa and Al-Fjaje) and two private flocks. All blood samples were screened for the presence of mutations at the CNGA3 gene (responsible for day blindness in Awassi sheep) using RFLP-PCR. The day blindness mutation was detected in all studied flocks. The overall allele and genotype frequencies of all studied flocks of the day blindness mutation were 0.088 and 17.49%, respectively. The genotype and allele frequencies were higher in station flocks than the farmer flocks (0.121, 24.15 and 0.012, 2.32, respectively). Al-Mushairfa and Al-Khanasry stations have the highest genotype and allele frequencies for the day blindness mutation that were 27.77, 30.00% and 0.14, 0.171, respectively. The investigated farmer flocks have low percentages (0.03, 5.88% at Al-Shoubak and 0.005 and 1.05%, at Al-Karak, respectively for genotype and allele frequencies) compared with the breeding stations. Ram culling strategy was applied throughout the genotyping period in order to gradually eradicate this newly identified day blindness mutation from Jordanian Breeding station, since they annually distribute a high percentage of improved rams to farmer's flocks.

Immune reconstitution inflammatory syndrome mimicking relapsing cryptococcal meningitis in a renal transplant recipient.

Immune reconstitution inflammatory syndrome (IRIS) is a rare entity that has been described recently in solid organ transplant (SOT) recipients. IRIS is characterized by an exuberant and dysregulated immune response following treatment of opportunistic infections. We describe here the case of a kidney transplant recipient who developed cryptococcal meningitis that was efficiently treated with antifungal therapy and decreased immunosuppression regimen. Eight months later, a paradoxical worsening of neurological symptoms and neuroradiological findings led to the diagnosis of IRIS. A short course of high-dose steroid therapy allowed complete resolution of neurological symptoms. This report highlights the challenge for physicians to distinguish IRIS from a relapsing cryptococcal infection. Clinical improvement of cryptococcosis-associated IRIS by anti-inflammatory drugs needs to be confirmed among SOT recipients.

The role of surgery in ongoing infarction.

Acute coronary syndromes range in severity from unstable angina to evolving myocardial infarction with persistent ST-segment elevation, with or without cardiogenic shock. Despite major improvements in medical and percutaneous therapy, acute coronary syndromes still represent a major cause of morbidity and mortality. The aggressive approaches to myocardial revascularization and mechanical circulatory support reviewed in this article seem to reduce the mortality associated with acute coronary syndromes. The optimal timing of surgery should not only reduce short-term mortality but also improve long-term outcomes.

Successful living related simultaneous pancreas-kidney transplant between identical twins.

Simultaneous pancreas-kidney transplant from living donors has been recently proposed as an effective therapeutic option in selected uremic patients with type I diabetes. We report the first simultaneous pancreas-kidney transplant performed between identical twins. Posttransplant, the recipient has been maintained on low dose cyclosporine to avoid recurrent auto-immune insulitis. At the 1-year follow-up, both donor and recipient are well with normal renal function and excellent glucose control. Simultaneous pancreas-kidney transplant between identical twins can be performed successfully using cyclosporine to prevent recurrent auto-immune insulitis.

Progressive functional adaptation of segmental bowel graft from living related donor.

We report a patient with short gut syndrome successfully treated with living related bowel transplantation. A 27-year-old Caucasian man was referred after traumatic loss of almost the entire bowel from the third portion of duodenum to the sigmoid colon. His HLA-identical sister volunteered as a donor. A 200-cm segment of ileum was successfully transplanted under tacrolimus-based immunosuppression. The posttransplant course was uneventful, without rejection or infectious complication. Total parenteral nutrition was discontinued 1 week posttransplant. At 6 months the patient had returned to his preinjury weight. Water and D-xylose absorption as well as fecal fat studies were markedly abnormal 1 month posttransplant but normalized by 6 months. The donor recovery was uneventful. A well-matched segmental ileal graft from living donor can provide complete rehabilitation for patients with short gut syndrome. We documented a progressive functional adaptation of the ileal graft, resulting in normal absorption by 5 months posttransplantation.

Short-term and long-term results of experimental wrapping techniques for bronchial anastomosis.

Major complications of bronchial anastomoses for either transplantation or sleeve resection include early leak, fistula formation, granulation tissue, and stenosis. To evaluate the impact of technique on these complications, we designed a nonimmunocompromised canine model with a totally ischemic bronchial segment. We wished to discover the prevalence of early and late complications of a telescoping anastomosis and if wrapping techniques modify them. We autotransplanted 25 mm of left main-stem bronchus by telescoping 1 mm of proximal into distal bronchus sutured with interrupted 4-0 polyglactin sutures. The animals were divided into four groups: no wrap; omental pedicle wrap; detached-free omental wrap; and Gelfoam sponge soaked in porcine omental extract. Weekly bronchoscopic studies assessed airway patency. After the animals were put to death at 70 days, the luminal areas of the proximal anastomoses were compared with the origin of the left main bronchus. No air leak, bronchial disruption, or infection occurred in any group at any time. Luminal narrowing occurred in all four groups but was most pronounced in the three groups in which wrapping techniques were used. We conclude that wrapping of a telescoped anastomosis is not necessary to prevent early complications. However, no method completely eliminates stenosis. Further experiments should determine the effects of immunomodulation in this model.

Contribution of the bronchial circulation to lung preservation.

Short preservation time still severely limits lung transplantation. To determine the effect of bronchial arterial flush preservation, we studied 54 dogs using the isolated perfused working lung model. After baseline measurements, lungs were flushed with lactated Ringer's solution (60 ml/kg at 8 degrees C) by one of three methods: pulmonary artery perfusion, bronchial artery perfusion through a 15 cm closed aortic segment, or simultaneous pulmonary-bronchial artery perfusion. These groups were further subdivided and tested after 0, 4, and 17 hours of storage at 4 degrees C (n = 6 each). Lungs were ventilated (flow rate 140 ml/kg/min; inspired oxygen fraction 0.21) and continuously reperfused with normothermic deoxygenated autologous blood in a closed loop. Measured variables were hemodynamics, aerodynamics, and leukocytes in bronchoalveolar lavage. Survival time was determined from initial reperfusion to failure of the lung to oxygenate. After 0 and 4 hours of storage, there was no significant difference in survival times. After 17 hours, lungs subjected to pulmonary-bronchial artery perfusion survived longer than those perfused via either the pulmonary or bronchial arteries alone (120 +/- 24 versus 38 +/- 14 or 52 +/- 16 minutes; p less than 0.01). Pulmonary artery pressure and resistance in all groups except at failure were never different from baseline values in the intact animal. Shunts in the pulmonary-bronchial artery perfusion groups were closest to baseline at onset (8% +/- 4%) and remained lower throughout reperfusion than in the groups subjected to pulmonary or bronchial artery perfusion alone. After 17 hours, static compliance of pulmonary artery-perfused lungs was worse than baseline (1.1 +/- 0.2 x 10(-2) versus 3.2 +/- 0.7 x 10(-2) L/cm H2O/sec; p less than 0.05), whereas compliance in the pulmonary-bronchial artery perfusion groups remained constant (3.6 +/- 1.5 x 10(-2) L/cm H2O/sec). Elastic work performed by lungs subjected to pulmonary-bronchial artery flushing at onset was significantly lower when these lungs were reperfused immediately (201 +/- 14 versus 295 +/- 35 gm-m/min for pulmonary artery-flushed lungs) or after 4 hours of storage (229 +/- 30 versus 290 +/- 24 gm-m/min for pulmonary artery-flushed lungs). Bronchoalveolar lavage after 17 hours in the group subjected to pulmonary bronchial artery flushing demonstrated leukocyte counts similar to those of intact lungs (45 +/- 5 versus 29 +/- 8/mm3) and significantly less than in lungs subjected to pulmonary or bronchial artery flushing (137 +/- 18 or 82 +/- 10/mm3, respectively).(ABSTRACT TRUNCATED AT 400 WORDS)

Does successful bridging with the implantable left ventricular assist device affect cardiac transplantation outcome?

OBJECTIVES: We sought to determine whether cardiac transplant recipients who required a bridge to transplantation with an implantable left ventricular assist device had a different outcome than patients who underwent transplantation without such a bridge. METHODS: A retrospective study of 256 cardiac transplants from 1992 to 1996 included 53 patients who received the HeartMate left ventricular assist device and 203 patients who had no left ventricular assist device support. RESULTS: Left ventricular assist device transplants increased from 8% of all transplants in 1992 (n = 63) to 32% in 1995 (n = 65) and 43% in 1996 (n = 14 year to date). Patients with and without left ventricular assist device had similar age and sex distributions. Left ventricular assist device recipients were larger (body surface area 1.96 vs 1.86 m2, p = 0.004). They were more likely to have ischemic cardiomyopathy (70% vs 45%, p = 0.001) and type O blood group (51% vs 34%, p = 0.06). All patients with left ventricular assist device and 42% of those without had undergone previous cardiac operations by the time of transplantation (mean number per patient 1.5 vs 0.3, p < 0.001). More patients in the left ventricular assist device group had anti-HLA antibodies before transplantation (T-cell panel reactive antibody level > 10% in 66% of left ventricular assist device group vs 15% of control group, p < 0.0001). Waiting time was longer for the left ventricular assist device than for patients in status I without a left ventricular assist device (median 88 vs 37 days, p = 0.002). There was no difference in length of posttransplantation hospital stay (median 15 days for each) or operative mortality (3.8% vs 4.4%). Mean follow-up averaged 22 months. No significant difference was found in Kaplan-Meier survival estimates. One-year survival was 94% in the left ventricular assist device group and 88% in the control group (difference not significant). Comparison of posttransplantation events showed no significant difference in actuarial rates of cytomegalovirus infection (20% vs 17%) or vascular rejection (15% vs 12%) at 1 year of follow-up. Similar percentages of patients were free from cellular rejection at 1 year of follow-up (12% vs 22%, p = 0.36). CONCLUSIONS: Left ventricular assist device support intensified the donor shortage by including recipients who otherwise would not have survived to transplantation. Bridging affected transplant demographics, favoring patients who are larger, have ischemic cardiomyopathy, have had multiple blood transfusions and complex cardiac operations, and are HLA sensitized. Successfully bridged patients wait longer for a transplant than do UNOS status I patients without such a bridge, but they have similar posttransplantation hospital stay, operative mortality, and survival to those of patients not requiring left ventricular assist device support.

Wandering intravascular missiles: report of five cases from the Lebanon war.

From 1980 to 1986, during the Lebanon war, five patients with missile embolization were seen at the American University of Beirut Medical Center. Three had entry in the heart or thoracic aorta with peripheral embolization, and two had entry in the internal carotid artery and inferior vena cava with embolization to the middle cerebral artery and heart, respectively. Embolization was suspected when, in the absence of an exit, routine x-ray films showed the missile in a distant location. Angiography and echocardiography confirmed the diagnosis. Peripheral arterial emboli were extracted while cerebral and venous emboli were kept, as they caused transient symptoms and remained silent.

A 32-year experience in 100 patients with giant paraesophageal hernia: the case for abdominal approach and selective antireflux repair.

BACKGROUND: Giant paraesophageal hiatal hernia (GPEH) presents a risk of catastrophic complications that include massive bleeding, strangulation, and perforation and should be repaired. Controversy persists as to the surgical approach and whether an antireflux repair is required. METHODS: This study reviews the experience with 100 patients with GPEH who underwent surgical repair between 1967 and 1999. Eighty patients underwent an elective operation, and 20 patients underwent an emergency procedure for complications of GPEH. The gastroesophageal junction was above the hiatus ("combined" hernia with sliding component) in 23 patients and in the abdomen in 77 patients, including 3 patients with a true parahiatal hernia. RESULTS: A thoracic approach was used in 18 patients, mostly early in our experience; postoperative gastric volvulus requiring transabdominal repair developed in 2 patients. The remaining 82 patients underwent an abdominal repair, with temporary gastrostomy to prevent gastric displacement in 75 patients; the hernial sac was resected, and the hiatus was reconstructed in all of the patients. Thirty-five patients with reflux on preoperative work up underwent a fundoplication, with gastroplasty in 2 patients because of a short esophagus. No patient has experienced hernia recurrence. Whereas symptomatic relief was excellent in all patients with elective repair, mild reflux was present in 2 patients after emergency operation. There were no deaths among the patients who underwent elective operation; there were 2 hospital deaths among those patients who underwent emergency operation (10%). CONCLUSIONS: GPEH should be repaired soon after recognition. Reflux should be evaluated before the operation, and if present, fundoplication should be part of the repair along with the reduction of the hernia, excision of the sac, gastropexy, and crural closure. These are best achieved with an abdominal approach.

Technique for commissural alignment of the arterial trunks during orthotopic heart transplantation.

Twisting, buckling, and stretching of the pulmonary artery due to faulty alignment or disproportionately long arterial trunks are known technical complications during orthotopic heart transplantation. Failure to recognize these potentially lethal problems intraoperatively may lead to acute ventricular distention and failure. We describe a technique for alignment of the arterial trunks during orthotopic heart transplantation based on the constant commissural orientation of the aortic and pulmonary valves.

Replacement of degenerated mitral and aortic bioprostheses without explantation.

BACKGROUND: The most common indication for reoperation in patients with a bioprosthetic valve is primary tissue failure. Explantation of the bioprosthesis is time consuming, and for a mitral valve, may be complicated by cardiac rupture at the atrioventricular junction or the posterior left ventricular wall where a strut is imbedded, injury to the circumflex artery, and late perivalvular leak; for an aortic valve, annular disruption and perivalvular leak may complicate explantation. A new approach to simplify these procedures and avoid these complications, by excising only the bioprosthetic tissue and attaching a bileaflet mechanical valve to the intact stent, was developed in 1991 and was evaluated over a 9-year period in 50 patients who had had one (34), two (10), three (4), or four (2) previous open cardiac operations. METHODS: Since 1991, we have replaced degenerated mitral bioprostheses in 34 patients (25 to 84 years of age; 12 male, 22 female) by preserving the stent and suturing a St. Jude or Carbomedics bileaflet valve to the atrial side of the bioprosthetic cuff; the mitral valve was exposed through a median sternotomy in 21 patients and through a right anterolateral thoracotomy in 13. Using a similar approach, starting in 1995, 16 additional patients (55 to 73 years of age; 11 male, 5 female) with degenerated aortic bioprostheses had the aortic valve replaced by excising the bioprosthetic tissue and amputating the struts, then suturing a Carbomedics valve to the aortic side of the bioprosthetic cuff. This allows the use of a bileaflet valve similar in size to the bioprosthesis with exact matching of the orifices. RESULTS: Bypass time averaged 61 +/- 14 minutes and aortic cross-clamp time 43 +/- 12 minutes. There has been no operative mortality. Three late deaths occurred at 9, 37, and 58 months, and were not valve related. No gradients of hemodynamic significance have been detected on transesophageal echocardiographic follow-up. CONCLUSIONS: Leaving the bioprosthetic cuff intact eliminates the need for extensive dissection, thus shortening and simplifying the procedure and diminishing its attendant mortality and morbidity. This valve-on-valve approach also allows replacement of a degenerated bioprosthesis with a bileaflet valve of comparable size rather than a smaller one jammed into the orifice of the bioprosthetic stent, thus avoiding undue trauma to the bileaflet valve and maintaining excellent hemodynamic function.

Pulmonary artery pseudoaneurysm after tube thoracostomy.

Pulmonary artery pseudoaneurysm has been described as a complication of Swan-Ganz catheterization and right heart catheterization. Isolated cases of this condition occurring in blunt and penetrating chest trauma have been reported. In this communication, we describe the case of a patient with intracranial hemorrhage who required positive-pressure ventilation and in whom subsequent pneumothorax developed, necessitating tube thoracostomy. A persistent opacification of the lung field resulted in evaluation with computed chest tomography and color-flow Doppler ultrasonography. A pseudoaneurysm of the lingular segmental artery was identified and successfully obliterated by Gelfoam coil embolization.

Bench repair of donor mitral valve before heart transplantation.

Bench repair of the donor mitral valve was performed before orthotopic heart transplantation in a 57-year-old status I recepient. Mitral regurgitation in the structurally normal mitral valve was due to annular dilatation at the attachment of the posterior leaflet and was corrected with posterior annuloplasty. The patient is clinically well 18 months after transplantation.

Immune-deficient bronchiectasis associated with X-linked lymphoproliferative disease.

Bronchiectasis may occur with various congenital and acquired immunodeficiency diseases. The association of bronchiectasis and the X-linked lymphoproliferative disease (XLP), also known as Duncan's disease is unknown. We describe the case of a 39-year-old man with XLP, the oldest surviving, who developed chronic bronchiectasis with hemoptysis and required a pneumonectomy to control his symptoms.

Pulmonary venous drainage into the left atrial appendage facilitates transplantation of the left lung with difficult exposure.

Heterotopic implantation of the pulmonary venous confluence into the left atrial appendage during left lung transplantation is a reasonable alternative technique to reestablish venous drainage when exposure of the native left pulmonary veno-atrial connection may be problematic. We used this approach in a 39-year-old woman with chronic bronchiectasis who underwent bilateral sequential lung transplantation through a clam-shell approach. Dense hilar scarring and a small left atrial size made exposure of the native left pulmonary veno-atrial connection difficult.

Closed chest hypothermic circulatory arrest for complex intracranial aneurysms.

BACKGROUND: Recent advances in techniques of cardiopulmonary bypass permitted hypothermic circulatory arrest (HCA) using groin cannulation with the chest closed (CC-HCA) and without direct access to the heart. Herein we describe our experience with this technique for complex intracranial aneurysms. METHODS: Between 1992 and 1999, 16 patients (4 men and 12 women) with a mean age of 52 years (range 32 to 61 years) with complex intracranial aneurysms underwent resection or clipping of their aneurysms at our institution using the technique of CC-HCA and groin cannulation. Groin access was obtained with 16F to 19F arterial and 18F to 20F venous cannulas placing the tips at the aortoiliac and atriocaval junctions, respectively. Patients were cooled to a nasopharyngeal temperature of 16 degrees C. RESULTS: Mean circulatory arrest time was 32 minutes. No patient required conversion to standard sternotomy and central cannulation. There were no intraoperative deaths. The 30-day hospital mortality was 2 of 16 patients (12%). Of the 14 surviving patients (88%), 1 developed bilateral third nerve palsy and another left hemiparesis that improved on follow-up. Both were discharged to an extended care facility and continued to do well at home after discharge. Two patients developed deep venous thrombosis postoperatively and required anticoagulation. All patients continued to do well at a mean follow-up of 42 months. CONCLUSIONS: The less invasive technique of CC-HCA through groin cannulation avoids complications associated with a sternotomy, is safe and is associated with little morbidity, reduced operative time, and early hospital discharge and rehabilitation.

Dysphagia caused by a fetus-in-fetu in a 27-year-old man.

Mechanical obstruction of the distal esophagus by a fetus-in-fetu is an extremely rare condition that has not been previously reported. We present the case of a 27-year-old man who presented with dysphagia caused by fetus-in-fetu contained within a retroperitoneal cystic cavity. The tumor, noticed since childhood, did not cause any symptoms until a year before presentation when symptoms of dysphagia developed. We propose including this entity in the differential diagnosis of a retroperitoneal mass.

Pneumothorax necessitans presenting as a presternal pneumothoracocele.

A 31-year-old woman who is an intravenous drug abuser developed sternoclavicular joint infection with mediastinal and subcutaneous tissue abscesses that communicated through an erosion in the manubrium caused by osteomyelitis. Air entrapment from a subsequent apical pneumothorax formed a localized anterior "pneumothoracocele." We referred to this condition as "pneumothorax necessitans," and we suggest including it in the differential diagnosis of anterior chest wall masses.

Factors influencing HLA sensitization in implantable LVAD recipients.

BACKGROUND: Patients bridged to transplantation (TX) with the implantable left ventricular assist device (LVAD) may be at increased risk for the development of panel-reactive antibodies (PRA) during support. METHODS: To investigate that, we evaluated 60 patients who received the HeartMate LVAD at our institution, of whom 53 had PRA results available for analysis. T lymphocyte PRA levels were examined before LVAD, at the peak PRA level during LVAD support (PEAK), and just before TX. A PRA level more than 10% was considered indicative of sensitization against HLA antigens. RESULTS: The only factor that had a significant effect on PRA levels before LVAD was patient's sex (1.3% for men versus 7.4% for women; p = 0.005). During LVAD support, peak PRA levels increased significantly and the sex-associated differences were no longer evident (33.3% men, 34.3% women; not significant). At the time of TX, PRAs decreased to 10.9% (men) and 7.0% (women) (not significant). We examined the influence of blood products received before TX on PRA levels. Patients who received less than the median number of total units (median). When examined by the type of blood product, only the number of platelet transfusions significantly increased the peak PRA (median: 46.9%; p = 0.03). Patients who received blood that was leukocyte-depleted tended to have lower TX PRA levels (2.9%) compared with those who did not (13.9%, p = 0.18). Forty-two patients were successfully bridged to TX, with three early and two late deaths after TX. Whereas 39 patients received transplants without intervention, 3 were treated by plasmapheresis with a 77% reduction in their HLA antibody levels at TX as measured by flow cytometry. CONCLUSIONS: Patients with the implantable LVAD are at significant risk for the development of anti-HLA antibodies during support. Although this sensitization is often transient, intervention using plasmapheresis may be useful for some patients.