Multisystem Failure Research Articles

Aneurisma de aorta abdominal roto: ¿Qué estamos haciendo?

Estudio descriptivo retrospectivo realizado en el servicio de cirugía vascular periférica del Hospital de San José de Bogotá D.C. Colombia, en un período de seis años. Se encontraron 21 pacientes con diagnóstico de aneurisma de aorta abdominal roto, los cuales se dividieron en dos grupos, uno contenido y otro no contenido. La principal causa de mortalidad fue choque hipovolémico, seguida de estado de falla multisistémica. Los orígenes más comunes de morbilidad fueron infarto agudo del miocardio y síndrome de dificultad respiratoria del adulto. El índice de mortalidad global fue de 57.14%. Abreviaturas: AAAR, aneurisma aorta abdominal roto; AAARC, aneurisma aorta abdominal roto contenido; AAARNC, aneurisma aorta abdominal roto no contenido; IAM, infarto agudo del miocardio; SDRA, síndrome de dificultad respiratoria del adulto.

Heparin-induced thrombocytopenia with thrombosis syndrome managed with plasmapheresis

Heparin-induced thrombocytopenia with thrombosis syndrome is an antibody-mediated disorder that has a high mortality in cardiac surgical patients in spite of early diagnosis and management with direct thrombin inhibitors. Plasmapheresis, an extracorporeal technique that has been designed for the removal of large molecular weight substances from the plasma, can remove the offending antibodies from these desperately ill patients. We describe a case of a postoperative cardiac surgery patient with heparin-induced thrombocytopenia with thrombosis syndrome and multi-system failure who was dependent upon a left ventricular assist device. He was treated successfully with plasmapheresis with recovery of his platelet count from 25,000/microl to over 200,000/microl, along with multi-organ recovery. This patient survived because of plasmapheresis. Removing the antibodies to the heparin-platelet factor four complex with plasmapheresis is an effective strategy to treat these patients. We believe that the use of plasmapheresis as a bail-out procedure in these often desperately ill post-operative cardiac surgical patients who have heparin-induced thrombocytopenia with thrombosis syndrome could be lifesaving.

Impedance cardiography in the estimation of hemodynamic and fluid status of coma patients during continuous venovenous hemodiafiltration

Most ICU patients on continuous venovenous hemodiafiltration (CVVHDF) are in multisystem failure and require extensive monitoring [1]. Impedance cardiography (ICG) technology provides a measurement of fluid status using the thoracic fluid content (TFC), along with cardiac output (CO), cardiac index (CI) and systemic vascular resistance index (SVRI). NICCOMO® (Medis, Germany), a noninvasive ICG device that provides trustworthy measures, could be a complementary monitor for CVVHDF, supporting fluid balance and helping avoid hemodynamic instability [2].

Left versus bi-atrial radiofrequency ablation in the treatment of atrial fibrillation

To evaluate the effectiveness of radiofrequency modified maze operation for the treatment of atrial fibrillation (AF) and compare the results of the left versus bi-atrial procedures. 305 patients of organic heart disease combined with AF, 117 males and 188 females, aged (53 +/- 10), that underwent cardiac valve operation (n = 293) and/or coronary artery bypass graft surgery (n = 14), received concomitant atrial fibrillation, bi-atrial (n = 160) or left atrial (n = 145) with a mean duration of (36 +/- 43) months. Follow-up was conducted for (28 +/- 5) (3 - 42) months. Thirteen patients (4.3%) died postoperatively: 7 died of multisystem and organ failure, 3 of low cardiac output, 1 of rupture of left ventricle, 1 of arrhythmia, and 1 of sudden death. During the follow-up, 1 patient died of heart failure, 1 of encephalorrhagia and 1 of unknown reason in the bi-atrial group. At the end of the procedure 223 patients (73.1%) had sinus rhythm, with a sinus rhythm rate of 66.9% (107/160) in the bi-atrial group, significant lower than that in the left atrial group (80.0%, 116/145, P < 0.05). At late follow-up, 215 of the 266 patients (80.8%) were in stable sinus rhythm. Sinus rhythm rate of the bi-atrial group was 80.0%, not significantly different from that of the left atrial group (81.9%, P > 0.05). The Kaplan-Meier survival analysis showed there was no significant difference in the AF rhythm rate between these 2 groups (P = 0.33). Logistic regression analysis showed that the left atrial diameter of >/= 80 mm was an independent predictor of AF recurrence. Both the left and bi-atrial procedures are successful in terms of restoring sinus rhythm. Left atrial ablation in severe cases and where the incision of right atrium is not needed is a reasonable choice.

Visuo-Motor Coordination Deficits and Motor Impairments in Parkinson's Disease

BackgroundVisuo-motor coordination (VMC) requires normal cognitive executive functionality, an ability to transform visual inputs into movement plans and motor-execution skills, all of which are known to be impaired in Parkinson's disease (PD). Not surprisingly, a VMC deficit in PD is well documented. Still, it is not known how this deficit relates to motor symptoms that are assessed routinely in the neurological clinic. Such relationship should reveal how particular motor dysfunctions combine with cognitive and sensory–motor impairments to produce a complex behavioral disability.Methods and FindingsThirty nine early/moderate PD patients were routinely evaluated, including motor Unified Parkinson's Disease Rating Scale (UPDRS) based assessment, A VMC testing battery in which the subjects had to track a target moving on screen along 3 different paths, and to freely trace these paths followed. Detailed kinematic analysis of tracking/tracing performance was done. Statistical analysis of the correlations between measures depicting various aspects of VMC control and UPDRS items was performed. The VMC measures which correlated most strongly with clinical symptoms represent the ability to organize tracking movements and program their direction, rather than measures representing motor-execution skills of the hand. The strong correlations of these VMC measures with total UPDRS score were weakened when the UPDRS hand-motor part was considered specifically, and were insignificant in relation to tremor of the hand. In contrast, all correlations of VMC measures with the gait/posture part of the UPDRS were found to be strongest.ConclusionsOur apparently counterintuitive findings suggest that the VMC deficit pertains more strongly to a PD related change in cognitive-executive control, than to a reduction in motor capabilities. The recently demonstrated relationship between gait/posture impairment and a cognitive decline, as found in PD, concords with this suggestion and may explain the strong correlation between VMC dysfunction and gait/posture impairment. Accordingly, we propose that what appears to reflect a motor deficit in fact represents a multisystem failure, dominated by a cognitive decline.

A Case Report of Generalized Pustulosis With Systemic Manifestations Requiring Burn Intensive Care Unit Admission

Not infrequently patients are transferred to a burn center with the diagnosis of toxic epidermal necrolysis (TEN). Not all cases of generalized erythema and skin sloughing represent TEN. Acute generalized pustular psoriasis (AGPP) of the von Zumbusch type and acute generalized exanthematic pustulosis (AGEP) are two rare skin diseases that can also present with widespread erythema and skin sloughing. We present the case of a 55 year old morbidly obese woman with a history of severe psoriatic arthritis treated in our burn unit for generalized pustulosis, erythema, and skin sloughing. This was accompanied by respiratory failure, hypotension, acute renal failure, and elevated direct bilirubin. Skin biopsy narrowed the differential diagnosis to AGPP and AGEP. Her skin sloughing was treated as second degree burns with petrolatum gauze and mupirocin ointment. She required intubation, aggressive fluid resuscitation and inotropic support. She recovered with these measures over the course of 1 week. Like TEN, AGPP, and AGEP can involve the skin to an extent requiring burn intensive care admission. Patients can present on rare occasions with multi-system failure. We would like to raise the awareness of burn specialists regarding these rare diseases. They should be distinguished from TEN, as they tend to have better prognosis than TEN and their management can be different.

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

AbstractDyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and a predisposition to cancer. The genetic basis of DC remains unknown in more than 60% of patients. Mutations have been identified in components of the telomerase complex (dyskerin, TERC, TERT, NOP10, and NHP2), and recently in one component of the shelterin complex TIN2 (gene TINF2). To establish the role of TINF2 mutations, we screened DNA from 175 uncharacterised patients with DC as well as 244 patients with other bone marrow failure disorders. Heterozygous coding mutations were found in 33 of 175 previously uncharacterized DC index patients and 3 of 244 other patients. A total of 21 of the mutations affected amino acid 282, changing arginine to histidine (n = 14) or cysteine (n = 7). A total of 32 of 33 patients with DC with TINF2 mutations have severe disease, with most developing aplastic anaemia by the age of 10 years. Telomere lengths in patients with TINF2 mutations were the shortest compared with other DC subtypes, but TERC levels were normal. In this large series, TINF2 mutations account for approximately 11% of all DC, but they do not play a significant role in patients with related disorders. This study emphasises the role of defective telomere maintenance on human disease.

Management of Acute Kidney Injury in Children

Acute kidney injury (AKI; previously called acute renal failure) is characterized by a usually reversible increase in the blood concentration of creatinine and nitrogenous waste products and by the inability of the kidney to appropriately regulate fluid and electrolyte homeostasis. The incidence of AKI in children appears to be increasing and the etiology of AKI over the past decades has shifted from primary renal disease to multifactorial causes, particularly in hospitalized children. Renal failure can be divided into prerenal failure, intrinsic renal disease including vascular insults, and obstructive uropathies. The history, physical examination, and laboratory studies including a urinalysis and radiographic studies can establish the likely cause(s) of AKI. Once intrinsic renal failure has become established, management of the metabolic complications of AKI requires meticulous attention to fluid balance, electrolyte status, acid-base balance, and nutrition. Many children with AKI will need renal replacement therapy to remove endogenous and exogenous toxins and to maintain fluid, electrolyte, and acid-base balance until renal function improves. Renal replacement therapy may be provided by peritoneal dialysis (PD), intermittent hemodialysis (HD), or hemofiltration with or without a dialysis circuit. Many factors--including the age and size of the child, the cause of renal failure, the degree of metabolic derangements, blood pressure, and nutritional needs--are considered in deciding when to initiate renal replacement therapy and which modality of therapy to use. The prognosis of AKI is highly dependent on the underlying etiology of the AKI. Children who have AKI as a component of multisystem failure have a much higher mortality rate than children with intrinsic renal disease. Recovery from intrinsic renal disease is also highly dependent on the underlying etiology of the AKI. Children who have experienced AKI from any cause are at risk for late development of renal failure long after the initial insult. Such children need life-long monitoring of their renal function, blood pressure, and urinalysis.

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized, particularly families displaying autosomal recessive (AR) inheritance. We have now identified novel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented with classical DC or the more severe variant, Hoyeraal-Hreidarsson (HH) syndrome. These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patients were observed to have higher-than-expected TERC levels compared with controls. Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome.

Dyskeratosis Congenita: A historical perspective

“Dyskeratosis Congenita (DC) also known as Zinsser–Engman–Cole syndrome is a rare multi-system bone marrow failure syndrome characterised by mucocutaneous abnormalities and an increased predisposition to cancer”. This is a common definition of DC but how did this definition arise? The aim of this review is to follow the development of DC and associated diseases from its first reported description in the early 20th century to the current understanding of the genes involved and its pathophysiology in 2007 in a chronological order. Although this review is not intended to be an exhaustive citation of the literature available it does provide a summary of the key developments, citing particularly the earlier reports of each development.

He Didn't Have a Chance

He Didn't Have a Chance

Introducing a Vital New Member to the Critical Care Team: Our Physical Therapy Assistant

“In Our Unit” highlights unique practices, innovations, research, or resourceful solutions to commonly encountered problems in critical care areas and settings where critically ill patients are cared for. If you have an idea for an upcoming “In Our Unit,” send it to CRITICAL CARE NURSE, 101 Columbia, Aliso Viejo, CA 92656; fax, (949) 362-2049; e-mail, ccn@aacn.org. With our physical therapy assistant, we have achieved a complete continuity of therapy in our unit. At Kenmore Mercy Hospital, we actively seek opportunities for improvement. Monthly critical care focus meetings are held to discuss all pertinent patient care issues affecting our 10-bed medical/surgical intensive care unit (ICU). During this meeting, staff members from many disciplines discuss our successes and plan ways to improve our care. The critical care team includes a diverse group of highly trained professionals who work toward the best outcome possible for seriously ill patients. All members of the team may be asked to teach patients and their families various strategies to improve health, healing, coping, and well-being specific to their area of expertise. Team members include the critical care intensivist, house physician, nursing manager, CCRN members, nursing educator, clinical pharmacist, nutritionist, case manager, registered respiratory therapist, chaplain, and physical therapist. One area that needed improvement was physical therapy offered to our critical care patients. Typically, physical therapy was limited to range of motion for only select patients and often on a limited basis because of availability of a therapist, but we felt there are a multitude of benefits from early initiation and ongoing physical therapy in patients, especially during intensive care stays. Physical therapists that practice in critical care settings face complex challenges. Critically ill multisystem failure patients are surviving in greater numbers, contributing to the severity of patients being treated and duration of critical care stay. These patients have limited mobility due to life support monitoring equipment, multiple medical problems, deconditioning, and muscle weakness. Early mobilization of critical care patients may facilitate weaning from mechanical ventilation and enhance functional outcomes by optimizing cardiopulmonary and neuromuscular status. Physical therapy helps to improve tissue perfusion, to promote better rest periods, to improve emotional state, to decrease acquired pressure ulcers, to lessen critical care delirium, to decrease complications, to restore function and mobility, and to relieve pain, which collectively

Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

DC is a multisystem bone marrow failure syndrome exhibiting marked clinical and genetic heterogeneity. X-linked, autosomal dominant and autosomal recessive subtypes are recognized. The gene mutated in X-linked DC (DKC1) encodes a highly conserved nucleolar protein called dyskerin. Dyskerin associates with the H/ACA motif class of small nucleolar RNAs in small nucleolar ribonucleoprotein particles that are important in guiding the conversion of uracil to pseudouracil during the maturation of ribosomal RNA. Dyskerin also associates with the TERC, which is important in the maintenance of telomeres. Mutations in TERC have been identified in patients with autosomal dominant DC and in a subset of patients with aplastic anemia and myelodysplasia. Recently, heterozygous mutations in TERT have been found in some patients with autosomal dominant DC and aplastic anemia. Additionally, patients with the severe multisystem disorder, Hoyeraal-Hreidarsson syndrome, have been found to have DKC1 mutations. Collectively, these observations have demonstrated that classical DC, Hoyeraal-Hreidarsson syndrome and a subset of aplastic anemia are due to a primary defect in telomerase. The critical role of telomeres and telomerase in humans is seen in the multisystem abnormalities found in these patients, including the increased incidence of malignancy. As bone marrow failure is the principal cause of death, conventional allografts have been attempted with limited success due to the high rate of pulmonary and endothelial complications. However, outcomes have improved with the use of non-myeloablative protocols, although the follow up is too short to evaluate long term toxicity and the natural course of the disease and it may be that correction of the telomerase defect is essential for the treatment of these patients.

Combined endocardial and epicardial radiofrequency modified Maze procedure in the treatment of atrial fibrillation

To evaluate the effectiveness of the combined endocardial and epicardial saline-irrigated radiofrequency modified maze procedure for the treatment of atrial fibrillation (AF). During a period of 3 years, 295 patients with AF having concomitant cardiac surgery underwent the procedure. Patients underwent either the endocardial and epicardial group (n=185) or the endocardial group (n=110) radiofrequency ablation. There were 124 males, 171 females with a mean age of (52 +/- 11) year old. Mean duration of preoperative AF was 36 +/- 43 months. And about 90.8 percent valve pathology was rheumatic. Valve operation was performed in 289 patients, coronary artery bypass graft surgery in 19 patients and congenital heart disease operation in 6 patients respectively. Follow-up for the whole patients ranged from 3 to 47 months (mean 28 +/- 5 months). Ten patients died postoperatively (3.4%). Four patients died of low cardiac output, five patients died of multisystem and organ failure, one patient died of cerebral hernia. There were 2 patients died of nerves system complication during follow-up. At the end of the procedure 228 patients (77.3%) were sinus rhythm, including 78 patients (70.9%) in endocardial group while 150 patients (81.1%) in endocardial and epicardial group (P<0.05). At late follow-up, 191 of 259 patients (73.7%) were in stable sinus rhythm. Sinus rhythm was present in 64 patients (66.0%) in endocardial group while 127 patients (78.4%) in endocardial and epicardial group (P<0.05). Histopathology of the endocardial group revealed foci coagulative necrosis was limited to the endocardial side. While endocardial and epicardial ablation had full-thickness alteration of atrial tissue besides ill defined borders and inflammatory cell infiltration. Combined endocardial and epicardial saline-irrigated radiofrequency modified maze procedure was performed safely and efficiently. And it restored sinus rhythm better than endocardial ablation only.

Massive SCA7 expansion detected in a 7‐month‐old male with hypotonia, cardiomegaly, and renal compromise

Infantile spinocerebellar ataxia type 7 (SCA7) is phenotypically different from the child-onset and adult-onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences. We describe a case study of a male who presented at 5 months of age with marked motor delay, failure to thrive, and a patent ductus arteriosus. He later developed renal failure of uncertain aetiology. The infant became progressively hypotonic, and cardiac and renal function deteriorated further; he died at the age of 11 months of multisystem failure. Family history revealed a diagnosis of SCA7 in the infant's father, paternal grandfather, and aunt. DNA analysis confirmed an expanded trinucleotide repeat in the SCA7 locus of about 240 repeats, suggesting a diagnosis of infantile SCA7. Striking anticipation is seen in SCA7, particularly with paternal transmission. The underlying pathophysiological processes seem to involve alteration in transcriptional regulation and a selective neuronal vulnerability to the widely distributed abnormal protein product. This case report reviews the current literature relating to infantile SCA7 and raises awareness of this rare but important phenotype.

Importance of luxury flow for critically ill patients receiving a left ventricular assist system

The presence of a significant organ dysfunction does not immediately exclude patients from consideration for treatment with a left ventricular assist system (LVAS). However, in treating morbid circulatory shock patients with multiple organ failure, it is important to know the preoperative and postoperative factor or factors related to the recovery of the damaged organ function. In this study, we retrospectively analyzed patients receiving a LVAS at our institution and tried to determine the important factors related to the survival of patients with multisystem failure. Twenty-seven patients who underwent LVAS placement at Saitama Medical School Hospital between 1993 and 2003 were included in this study. The preoperative risk factors analyzed were renal dysfunction, respiratory dysfunction, hepatic dysfunction, the existence of active infection, and the combination of all four factors. As a postoperative factor, the pump flow index (mean LVAS pump flow during the first 2 weeks after LVAS surgery divided by the body surface area) was analyzed. None of the analyzed preoperative factors could predict survival after LVAS surgery, but a pump flow index of less than 2.5 l/min/m2 had a significant relationship with death after LVAS surgery. Further analysis revealed that all the patients with a pump flow index of 3.0 l/min/m2 or more could overcome preoperative organ dysfunction. Congestive heart failure patients with multisystem failure need luxury pump flow for successful LVAS surgery; this factor could be especially important in device selection and postoperative management.

Organ Transplantation in Hereditary Apolipoprotein AI Amyloidosis

Patients with hereditary apolipoprotein AI (apoAI) amyloidosis often have extensive visceral amyloid deposits, and many develop end-stage renal failure as young adults. Solid organ transplantation to replace failing organ function in systemic amyloidosis is controversial due to the multisystem and progressive nature of the disease and the risk of recurrence of amyloid in the graft. We report the outcome of solid organ transplantation, including dual transplants in 4 cases, among 10 patients with apoAI amyloidosis who were followed for a median (range) of 16 (4-28) and 9 (0.2-27) years from diagnosis of amyloidosis and transplantation, respectively. Eight of 10 patients were alive, seven with a functioning graft at censor. Two patients died, one of disseminated cytomegalovirus infection 2 months after renal transplantation and the other of multisystem failure following severe trauma more than 13 years after renal transplantation. The renal transplant of one patient failed due to recurrence of amyloid after 25 years. Amyloid disease progression was very slow and the natural history of the condition was favorably altered in both cases in which the liver was transplanted. Failing organs in hereditary apoAI amyloidosis should be replaced since graft survival is excellent and confers substantial survival benefit.

Ninety-Day Mortality After Bilateral Hip Arthroplasty

Despite lack of any studies, to our knowledge, bilateral total hip arthroplasty (THA) is believed to carry higher perioperative mortality. The purpose of this study is to investigate the incidence of mortality within 90 days of bilateral THA in a major urban medical center. The incidence of 90-day mortality after 1-stage bilateral THA performed in 707 patients between 1995 and 2004 was evaluated. A detailed analysis of our database was performed to determine which bilateral THA patients died within 90 days of surgery. Every living patient who had undergone bilateral hip arthroplasty was contacted. One patient (0.14%, 1/707) died within 90 days of 1-stage bilateral THA. The patient developed spontaneous retroperitoneal hematoma requiring massive transfusion. The patient died of multisystem failure 35 days after undergoing bilateral THA. One-stage bilateral uncemented THA performed in a select group of healthy and young patients carries an acceptable risk.

Right Ventricular Metastasis of Uterine Squamous Cell Carcinoma

This imaging case report demonstrates abnormal right ventricular masses of primarily unknown origin. The woman was admitted because of right heart failure symptoms. Echocardiography showed the masses exclusively related to the right ventricular endomyocardium and extending through the entire length and breadth of the ventricle. Systolic function was normal without evidence of outflow tract obstruction. The patient died in 3 days because of multisystem failure. Autopsy findings confirmed metastasis on the right ventricle and histopathology demonstrated the infrequent finding of metastasis from uterine squamous cell carcinoma, which had been operated on 5 years before.

Adult T-cell leukemia presenting with acute liver failure

Malignant infiltration of the liver is a rare cause of acute liver failure accounting for less than 1% of cases. We describe a case of adult T-cell leukemia (ATL) that presented with a prodromal illness that progressed to jaundice, hepatic encephalopathy, multisystem failure and death within 8 weeks. Liver histology revealed massive infiltration with atypical lymphocytes typical of ATL and liver necrosis.