Sequential changes of surfactant phosphatidylcholine in hyaline-membrane disease of the newborn

Although reduced levels of lung surfactant are known to predispose to hyaline-membrane disease, the role of biochemical changes in surfactant composition has not been defined. We found that surfactant isolated from pharyngeal and tracheal aspirates of newborns with hyaline-membrane disease had a distinctly different phosphatidylcholine fatty acid composition from surfactant of control infants. Surfactant phosphatidylcholine from newborns with hyaline-membrane disease had a lower percentage of palmitic acid and higher percentages of the 18-carbon and 20-carbon fatty acids, irrespective of gestational age. Evaluation of serial aspirates for 18 days revealed that in hyaline-membrane disease the surfactant phosphatidylcholine fatty acids followed a predictable pattern of change, gradually becoming similar to those of the control group. Evaluation of surfactant from tracheal and pharyngeal aspirates effectively monitors the biochemical maturation of the surfactant system in hyaline-membrane disease.     

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age- related macular degeneration (AMD). We completed the exon-intron structure of the ABCR gene and detected a severe homozygous 5[prime] splice site mutation, IVS30+1G->T, in the four RP patients. The five CRD patients in this family are compound heterozygotes for the IVS30+1G- >T mutation and a 5[prime] splice site mutation in intron 40 (IVS40+5G- >A). Both splice site mutations were found heterozygously in two unrelated STGD patients, but not in 100 control individuals. In these patients the second mutation was either a missense mutation or unknown. Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele. Since the intron 30 mutation is found heterozygously in the CRD patients, the IVS40+5G->A mutation probably renders the exon 40 5[prime] splice site partially functional. These results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD. Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD.      

Perforating branches of the middle cerebral artery. Microanatomy and clinical significance of their intracerebral segments

Perforating branches of the middle cerebral arteries (MCA) were examined on the forebrain hemispheres of fourteen human brains. It was noticed that their intracerebral segments arose from the MCA main trunk, and its terminal and collateral (cortical) branches. They terminated in certain parts of the basal ganglia and internal capsule. The course, direction, shape, diameters and branches of these segments were examined in detail. Classification of all the vessels was made according to caliber. It was concluded that the size of lacunar infarcts depends on the caliber and ramification zone extent of the occluded perforating vessels. Diameters of the intracerebral segments of vessels ranged from 80 to 840 microns, of their terminal branches from 80 to 780 microns, and of the collateral branches from 50 to 400 microns. The average size of the ramification zone was: 41.6 X 15.5 mm for the entire perforating artery; 37.9 X 15.5 mm for the intracerebral segment; 23 X 13 mm for the terminal branches; 8.9 X 5.5 mm for larger collateral branches; and 2.6 X 1.4 mm for the smallest branches.     

Recurrent hepatic sarcoidosis post-liver transplantation manifesting with severe hypercalcemia: a case report and review of the literature.

Sarcoidosis is a systemic granulomatous disease primarily involving the lungs, lymph nodes, skin, eyes and nervous system; liver involvement is asymptomatic in most cases. However, once the patient develops clinical symptoms liver disease is usually progressive and may necessitate orthotopic liver transplantation. There are a few reports of asymptomatic recurrent sarcoidosis developing within the liver allograft. We report a case of early recurrence of sarcoidosis in the liver allograft diagnosed on biopsy in a patient who presented with severe hypercalcemia, kidney dysfunction, and increase in size of abdominal lymph nodes. The liver chemistry tests were within normal limits. The patient responded well to steroid treatment by normalizing serum calcium and creatinine levels and reducing lymph node size. To date, there has been no report in the literature of symptomatic recurrence of hepatic sarcoidosis following orthotopic liver transplantation.     

Chronic heart perforation with 13.5 cm long Kirschner wire without pericardial tamponade: an unusual sequelae after shoulder fracture

We report a unique case of cardiac embolization with the Kirschner wire that has been used for osteosynthesis for 24 months previously. According to the complete analysis of medical records and autopsy report, the wire had migrated from the right humeroscapular joint to the heart. Although migration of a Kirschner wire has been reported in the literature, migration of the wire with a total length of 13.5 cm with no pericardial tamponade, despite myocardial perforation, has not been previously described.     

Tooth abrasion in workers exposed to noise in the Montenegrin textile industry

A cross-sectional study was performed on 225 textile workers from a wool production company in Montenegro to test the hypothesis of a relationship between exposure to intense industrial noise and tooth abrasion. The group exposed to intense noise (104 dB (A) Leq) consisted of 111 weavers (82 males and 29 females), while the control group (81 dB (A) Leq) consisted of 114 blue-collar workers (32 males and 82 females) in preparation departments. A specialist in dental prosthetics clinically examined all the subjects and additionally analyzed tooth statuses on hard plaster models. Gender, age, socioeconomic status and tooth brushing habits of workers were controlled as confounding factors. Significantly high adjusted odds ratios for tooth abrasion of 3.74 (95% CI = 1.42-7.85; p < 0.01) were found among female workers exposed to intense noise in comparison with the control group. The analysis of the subclass of male workers with severe tooth abrasion (grades III-IV) revealed significantly high adjusted odds ratios for tooth abrasion of 5.48 (95% CI = 1.76-14.50; p < 0.01) among the noise exposed group compared to the control group. This study suggests that extremely high levels of occupational noise might be related to tooth abrasion in exposed textile workers.     

Effects of a fixed mixture of 25% insulin lispro and 75% NPL on plasma glucose during and after moderate physical exercise in patients with type 2 diabetes

OBJECTIVE: To compare the plasma glucose (PG) response with a fixed mixture of 25% insulin lispro and 75% NPL (Mix25), prior to a meal and 3 h before exercise, to human insulin 30/70 (30/70) in patients with type 2 diabetes. RESEARCH DESIGN AND METHODS: Thirty-seven patients were treated in a randomized, open-label, 8-week, two-period crossover study. Mix25 was injected 5 min before breakfast and dinner throughout the study, as was 30/70 on inpatient test days and on outpatient dose titration days. Following the 4-week outpatient phase, patients were hospitalized, and exercised at a heart rate of 120 beats/min on a cycle ergometer two times for 30 min, separated by 30 min rest, starting 3 h after a 339 kcal breakfast. RESULTS: The 2-h postprandial PG was significantly lower with Mix25 ((mean +/- SEM) 10.5 +/- 0.4 mmol/l vs 11.6 +/- 0.4 mmol/l; p = 0.016). Maximum decrease in PG from onset of exercise to end of exercise was significantly less with Mix25 (-3.6 +/- 0.29 mmol/l vs -4.7 +/- 0.31 mmol/l; p = 0.001). The maximum decrease in PG over 6 h, after exercise onset, was significantly less with Mix25 (-4.3 +/- 0.4 mmol/l vs -5.9 +/- 0.4 mmol/l; p < 0.001). The frequency of hypoglycemia (blood glucose (BG) < 3 mmol/l or symptoms) during the inpatient test was not different between treatments. During the outpatient phase, the frequency of patient-recorded hypoglycemia was significantly lower with Mix25 (0.7 +/- 0.2 episodes/30 d vs 1.2 +/- 0.3 episodes/30 d; p = 0.042). CONCLUSIONS: Mix25 resulted in better postprandial PG control without an increase in exercise-induced hypoglycemia. The smaller decrease in PG during the postprandial phase after exercise may suggest a lower risk of exercise-induced hypoglycemia with Mix25 than with human insulin 30/70, especially for patients in tight glycemic control.     

Early graft thrombosis due to antithrombin III deficiency following CABG

The serine protease inhibitor antithrombin III (AT-III), an ??2-globulin synthesized in the liver and endothelial cells, is the principal in vivo inhibitor of blood coagulation inactivating mainly thrombin. AT-III deficiency presents a rare hereditary or acquired disorder that most often comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism. Triggers for the onset of the thrombosis include various mechanisms such as pregnancy, delivery, surgery, trauma, and contraceptive pill use. Decreased response to heparin may be the first sign of AT-III deficiency. Since heparin is a conditio sine qua non for cardiopulmonary bypass, rapid consumption of AT-III promoted by heparin may lead to systemic thrombosis. The effect of heparin on graft patency after CABG in patients with AT-III deficiency, particularly with respect to early graft thrombosis, has not been fully investigated. The early detection and timely treatment of this disorder may impact perioperative morbidity. We present a case of simultaneous thrombosis of three venous grafts after elective coronary artery bypass surgery in a patient with AT-III deficiency.     

Early Prediction of Symptomatic Hypocalcemia after Total Thyroidectomy

Background : Hypocalcemia is the most common postoperative complication after total thyroidectomy. The aim of this prospective study was to determine biochemical parameters in the early postoperative period that could identify patients with significantly increased risk of symptomatic hypocalcemia development.

Methods : The study included 100 individuals undergoing total thyroidectomy from January to May 2009. In all patients PTH, calcium, inorganic phosphate, magnesium, and albumin levels were measured immediately preoperatively, 30 minutes postoperatively and every morning for the following five days.

Results : Clinically significant hypocalcemia was observed in 19% of all cases. Fall of the iPTH values by more than 88% from preoperative values, 30 min after completion of the surgery, showed 100% sensitivity and 100% specificity for the occurrence of symptomatic hypocalcemia.

Conclusions : According to our results immediate postoperative measurement of the iPTH may be considered as a useful method to predict with high certainty which patients will need calcium supplementation, and to separate them from patients who can be safely and early discharged.