Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia

The mechanisms of hypocalcemia, recurrent infections and hypogammaglobulinemia associated with metabolic decompensation of propionic acidemia due to propionyl-CoA carboxylase deficiency have not been defined. A 7-week-old infant with this disorder presented with severe hypocalcemia and B cell lymphopenia during an episode of metabolic acidosis and hyperammonemia. Hypocalcemia (1.1 mmoll ¹) was associated with elevated serum intact parathyroid hormone (122 ng 1 ¹), hyperphosphatemia, hypophosphaturia and hypercalcuria, indicating parathyroid hormone resistance. B cell lymphopenia (20 cells μl^-1) was associated with transient neutropenia, anemia and subsequent hypogammaglobulinemia (IgG < 294mgdl^-1, IgM < 8mgdl^-1, IgA < 8mgdl ¹), while T cells were normal. Parathyroid hormone resistance and B cell lymphopenia resolved following treatment with hemodialysis, diet and carnitine. These complications may be due to interference with parathyroid hormone renal tubular action and B cell maturation/proliferation by accumulated organic acids.     

Infant growth and aorta total lipid fatty acids

Abnormal fetal and infant growth have increasingly been correlated with adult onset cardiovascular disease. To date, there is little known about the lipid fatty acid profiles in infant cardiovascular tissue. Therefore, we analysed total lipid fatty acids from thoracic and abdominal aorta intima and media from 24 normally grown sudden infant death syndrome cases. Aorta from small for gestational age (n = 2), failure to thrive from birth (n = 3), and premature (n = 1) infants were also examined. Dihomo-gamma-linolenic acid (C20:3n-6) and oleic acid (C18:1n-9) concentrations were significantly lower in the thoracic than in the abdominal aorta. Similar dietary related differences were found in the subgroup (n = 15) of infants fed on formula milks. Both abdominal and thoracic intimal arachidonic (C20:4n-6) to dihomo-gamma-linolenic acid ratios were greater in the infants with retarded growth after birth than in their normally grown counterparts. Growth restriction in infancy might disrupt the normal accretion of vascular endothelial polyunsaturated fatty acids.     

肱骨干骨折后桡神经麻痹的系统评价

目的采用循证医学研究方法,系统评价肱骨干骨折后桡神经麻痹(radialnervepalsy,RNP)的不同处理方法,为临床治疗决策提供证据基础。方法采用PubMed、Datastar及CochraneDatabase等互联网公共搜索引擎作为检索工具,检索过去40年中发表的有关肱骨干骨折后桡神经麻痹的文献,再对入选文献的参考文献行手工检索,制定数据抽取问表,对入选文献进行数据抽取、汇总、归纳和荟萃分析。结果共检索到391篇原始文献,其中324篇得自电子检索,67篇得自手工检索。有35篇符合最终的入选标准,总计随访患者1045例。其中21篇文献共记录了发生于4517例肱骨干骨折中的532例桡神经麻痹,肱骨干骨折后桡神经麻痹的发生率为11.8%。肱骨干中1/5和中远1/5部位的桡神经麻痹发生率明显高于其他部位(P<0.05)。不同骨折类型中,横形和螺旋形骨折较斜形和粉碎性骨折更易于并发桡神经麻痹(P<0.0001)。肱骨干骨折后桡神经麻痹总的恢复率为88.1%,早期保守治疗的病例自发性恢复率为70.7%。观察等待组和早期手术探查组之间神经恢复的最终结果没有明显差别。结论对肱骨干骨折后桡神经麻痹采用早期保守治疗不会影响神经的最终恢复结果,可以避免许多不必要的手术。     

Use of I-131 labeled, murine Fab against a high molecular weight antigen of human melanoma: preliminary experience

High molecular weight antigen (HMWA) is a tumor-associated proteoglycan of human malignant melanoma. I-131 labeled Fab fragments of these specific antibodies were used for preliminary feasibility studies for radioimmunodetection and therapy of human subjects who had inoperable metastatic melanoma. Ten patients received tracer doses of 5-13 mCi (185-481 MBq) of I-131 (anti-HMWA) Fab. All patients (8/8) who had melanoma lesions greater than 1 cm by correlative diagnostic methods had one or more lesions that had localization to tumor of the radiolabeled Fab. In all, 17 of 23 (74%) documented metastases were seen. There were no false positives in this series. Two patients who had avid uptake received potentially radiotherapeutic doses of 142 mCi (5,254 MBq) (one patient) and 181 mCi (6,697 MBq) and 193 (7,141 MBq) (total: 374 mCi or 13,838 MBq) (one patient). For both of these patients, whole body imaging studies showed that the localization of the high dose I-131 Fab was predominantly in tumor. The patient who received the larger dose showed a greater than 50% reduction in the size of pelvic and pericaval nodes, with stabilization of disease at the smaller nodal size for a period of three months. On whole body images, the anti-Fab HMWA appears to be more tumor selective than Fab preparations that target the p97 antigen for melanoma, and there is less uptake in liver.