Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heart-lung transplantation for treatment of end-stage cardiopulmonary disease continues to be plagued by many problems. Three primary ones are the technical difficulties that can be encountered, particularly in those patients who have undergone previous cardiac operations, the additional restriction on donor availability imposed by the lack of satisfactory preservation techniques, and the need for lung size compatibility. Two of these difficulties and others surfaced postoperatively in a heart-lung transplant recipient who presented a series of unique operative and therapeutic challenges. A 42-year-old woman with chronic pulmonary hypertension and previous atrial septal defect repair underwent a heart-lung transplantation in August 1985. The operative procedure was expectedly complicated by bleeding from extensive mediastinal adhesions from the previous sternotomy and bronchial collateralization. Excessive chest tube drainage postoperatively necessitated reoperation to control bleeding from a right bronchial artery tributary. Phrenic nerve paresis, hepatomegaly, and marked abdominal distention caused persistent atelectasis and eventual right lower lobe collapse. Arteriovenous shunting and low oxygen saturation necessitated right lower lobectomy 15 days after transplantation, believed to be the first use of this procedure in a heart-lung graft recipient. Although oxygenation improved dramatically, continued ventilatory support led to tracheostomy. An intensive, psychologically oriented physical therapy program was initiated to access and retrain intercostal and accessory muscles. The tracheostomy cannula was removed after 43 days and gradual weaning from supplemental oxygen was accomplished. During this protracted recovery period, an episode of rejection was also encountered and successfully managed with steroid therapy. The patient continued to progress satisfactorily and was discharged 83 days after transplantation. She is well and active 20 months after discharge.
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PMID:Postoperative complications necessitating right lower lobectomy in a heart-lung transplant recipient with previous sternotomy. 311 65

In 1980 we described bilateral pulmonary thromboendarterectomy with median sternotomy, cardiopulmonary bypass, deep hypothermia, and circulatory arrest for the relief of pulmonary hypertension caused by chronic pulmonary embolism. In our subsequent experience, which totals 41 patients, we have identified three groups of patients characterized by differences of intraoperative management. In Group A (N = 16) myocardial protection consisted of single-dose crystalloid cardioplegia followed by pericardial irrigation with cold saline. Extrapericardial dissection of the pulmonary arteries was performed. Group B (N = 7) was treated the same as Group A except for the substitution of saline slush contained in a laparotomy pad for iced saline. In Group C (N = 18) myocardial protection was single-dose blood cardioplegia followed by the application of a specially designed cooling jacket to the right and left ventricles. Another modification was that of intrapericardial dissection of the pulmonary arteries with extension of the dissection into the hilar tissues without entrance into the pleural spaces. The hospital mortalities of Groups A, B, and C were 18.7%, 14.3%, and 5.5%, respectively (not statistically significant differences). However, other statistically significant differences (p less than 0.05) among the groups were observed: Phrenic nerve paresis occurred in five of seven (71%) Group B patients but in no Group A or C patients; Group B patients required ventilatory support for 32.2 days compared with 8.4 days for Group A and 6.2 days for Group C; time in the intensive care unit was 36 days for Group B patients versus 13 for Group A and 10.3 for Group C; pulmonary vascular resistance decreased 59% (649 versus 259) intraoperatively in 13 patients in Group C. We believe simultaneous bilateral pulmonary thromboendarterectomy with median sternotomy, cardiopulmonary bypass, deep hypothermia with circulatory arrest, and the modified methods of myocardial preservation and dissection represent current optimal surgical management of this problem.
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PMID:Modifications of techniques and early results of pulmonary thromboendarterectomy for chronic pulmonary embolism. 380 98

We describe a premature baby with X pentasomy, having a severe pulmonary hypertension secondary to perinatal asphyxia and hyaline membrane disease which appeared to be refractory to conventional treatments (hyperventilation, tolazoline, prostacyclin). Oxygenation and pulmonary hypertension rapidly improved after starting magnesium sulphate infusion (loading dose: 20 mg/kg e.v. of elementary Mg, followed by continuous infusion of 2-4 mg/kg/hr during 6 days). The therapy was associated with hypermagnesemia (5-7 mg/100 ml) and transitory side effects (hypocalcemia, muscular and bladder paresis, bradycardia without hemodynamic decompensation). We suggest that magnesium therapy might be considered in newborns with severe and persistent pulmonary hypertension.
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PMID:[Efficacy of magnesium in a case of neonatal pulmonary hypertension refractory to the usual therapies]. 773 16

Mucopolysaccharidosis (MPS) type II (Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation. As with all the MPS disorders, mucopolysaccharidosis type II is a clinically heterogeneous disease in terms of the extent and rate of progression of organ impairment in affected individuals. Common causes of death, which usually occurs within the second decade of life, are obstructive airway disease and cardiac failure due to valvular dysfunction, pulmonary hypertension and myocardial disease. Patients with the more attenuated (so-called adult) form usually have a normal intelligence, but often have many complaints such as progressive loss of vision due to retinal dysfunction, spastic paresis due to myelon compression at the cranio-cerevical region, severe hip disease and cardiac complications. Clinical investigations that have been performed in the last years in a great number of patients have shown that many of these complications are still underdiagnosed and untreated. Until recently, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications. Enzyme replacement therapy with recombinant iduronate-2-sulphatase (idursulfase), however, has now been introduced. And it could be demonstrated that weekly intravenous infusions of idursulfase is able to improve many of the symptoms and signs of Hunter syndrome. This review will present the efficacy and safety data of the enzyme preparation and discuss benefits and limitations of this new therapeutic option.
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PMID:Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment. 2123 46

A 42-year-old woman was admitted due to systemic lupus erythematosus complicated with glomerulonephritis and pulmonary hypertension. During the treatment for these complications, she presented motor paresis and sensory loss caused by transverse myelitis. In spite of methyl prednisolone pulse therapy, she further developed acute confusional state due to disseminated encephalitis and fell into respiratory arrest. On laboratory examination, elevation of anti-NR2 antibodies in serum as well as in cerebrospinal fluid was noted. Although she recovered from the disseminated encephalitis after extensive treatment with high doses of corticosteroid and intravenous cyclophosphamide, she suddenly died of pulmonary hypertension. Autopsy findings confirmed the presence of liquefaction necrosis in the entire circumference of the whole spinal cord along with intimal hyperplasia and obliteration of the small arteries, accompanied by mononuclear cell infiltration and disruption of internal elastic lamina. It is therefore most likely that our patient developed longitudinal transverse myelitis through spinal cord vasculitis, which extended to brainstem and brain parenchyma, leading to the development of disseminated encephalitis.
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PMID:Transverse myelitis extended to disseminated encephalitis in systemic lupus erythematosus: Histological evidence for vasculitis. 2511 57

Mitochondrial aminoacyl-tRNA synthetases are an important group of disease genes typically underlying either a disorder affecting an isolated tissue or a distinct syndrome. Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis). We report here a homozygous splicing mutation in SARS2 in a patient with progressive spastic paresis. We show that the mutation leads to diminished levels of the synthetase in patient's fibroblasts. This has a destabilizing effect on the tRNASer(AGY) isoacceptor, but to a lesser degree than in HUPRA syndrome patients. tRNASer(UCN) is largely unaffected in both phenotypes. In conclusion, the level of tRNASer(AGY) instability may be a factor in determining tissue manifestation in patients with SARS2 mutations. This finding exemplifies the sensitivity of the nervous system to partially reduced aminoacylation, which is sufficient in other tissues to maintain respiratory chain function.
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PMID:Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome. 2727 29

A cat was evaluated for an acute-onset of right pelvic limb paresis. Thoracic radiographs revealed normal cardiac size and tortuous pulmonary arteries. Abdominal ultrasound identified a heartworm (HW) extending from the caudal abdominal aorta into the right external iliac artery and right femoral artery. The cat was HW-antigen positive. Echocardiography revealed a HW within the right branch of the main pulmonary artery and evidence of pulmonary hypertension. An agitated-saline contrast echocardiogram revealed a small right to left intracardiac shunt at the level of the atria. Surgical removal of the HW was performed with no substantial postoperative complications. There was return of blood flow and improved motor function to the limb. The cat remains mildly paretic on the affected limb with no other clinical signs.
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PMID:Aberrant migration and surgical removal of a heartworm (Dirofilaria immitis) from the femoral artery of a cat. 2946 Apr 57