New syndrome of simplified gyral pattern,micromelia, dysmorphic features and early death

We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome.     

Cortical and cancellous morselized allograft in acetabular revision total hip replacement: minimum 5-year follow-up

Sixty patients who had had revision acetabular components with impaction morselized bone graft were studied in a retrospective, matched-pair analysis. In 30 patients, the morselized graft was derived from cortical bone (group A), and in 30 patients, the graft was derived from cancellous bone (group B). The patients were matched for age, gender, weight, comorbid conditions, Charnley category, severity of bone loss, and allograft preparation. At the time of follow-up, a mean of 7.4 years (range, 5-9 years) after surgery, the mean Harris Hip Scores in groups A and B were 84 and 77, respectively. Cup migration of 5 to 10 mm were noted in two patients in each group. Cup migration >10 mm was noted in 2 patients from group B and none in group A. Two patients in group A and 5 patients in group B underwent cup rerevision as a result of aseptic loosening. There was a correlation between progressive radiolucent lines extending 2 mm, cup migration, and clinical outcome. The current study showed that early and midterm clinical and radiologic outcomes such as cup migration >5 mm and radiolucent lines were significantly better using cortical morselized allograft. However, further mechanical and histologic evaluations should be performed that demonstrate the difference between these 2 types of morselized allograft.     

Late-onset chylothorax after heart-lung transplantation

Chylothorax has rarely been reported after heart and lung transplantation. We describe a case of a bilateral chylothorax that occurred in a 53-year-old man 4 months after heart-lung transplantation and review the three additional reports in the literature of chylothorax after heart transplantation. Chyle drainage may cause compromise of the transplant patient. The good nutritional status of our recipient, however, allowed conservative therapy with chest tube drainage and enteral low-fat diet, without the need for surgical intervention. We concluded that chylothorax can presents late after lung transplantation and that conservative treatment should be considered in patients with good nutritional status.     

Conventional dose fludarabine-based regimens are effective but have excessive toxicity in elderly patients with refractory chronic lymphocytic leukemia

The best approach to elderly patients with relapsing chronic lymphocytic leukemia (CLL) or disease refractory to conventional therapy with alkylating agents has not yet been established. Fludarabine and its combination with mitoxantrone and/or cyclophosphamide, which is the most effective treatment in younger patients, has not been extensively utilized in the elderly CLL. Here we report our results with fludarabine-based chemotherapy in 32 previously treated patients over the age of 65 years. The overall response rate was 59% with no complete remission, 3 nodular partial remissions and 16 partial remissions. The median time to progression of disease was 7 months. Only 10 patients completed the entire treatment program, because of poor compliance due to toxicity. Eight patients developed neutropenic fever, 14 severe bacterial infections and 2 patients showed progressive encephalopathy. For comparison, in a younger group of patients with refractory CLL (< 65 years), 38 of 50 patients completed the treatment plan, and the ORR was 80% (10 CR, 11 PR-nodular, 19 PR) with a median response of 12 months. Neutropenic fever was diagnosed in 10 and severe bacterial infection in 4 patients. In conclusion, fludarabine-based chemotherapy is effective for refractory CLL, however, excessive toxicity such as severe infections and neurological complications, do not allow completion of treatment in the majority of the elderly patients. Because maintenance of a good quality of life should be the main goal in the elderly CLL population, dose reduction of fludarabine and the appropriate use of myeloid growth factors and prophylactic antibiotics appear mandatory in this group of patients.     

Correlation of neuropsychological evaluation and SPECT imaging in patients with Alzheimer's disease

BACKGROUND: Mini-Mental State Examination (MMSE) is a very useful tool for diagnosing changes in cognitive functions by the general practitioner or other medical staff who is not familiar with neuropsychological tests. On the other hand, HMPAO brain SPECT has been shown to have a high sensitivity to detect neurodegenerative processes, which lead to dementia. The correlation between both methods is unknown. We compared both methods in order to find a rational evaluation tool for the practitioner to obtain a higher efficacy and cost effective way of using both methods. PATIENTS AND METHODS: Fifty-one patients diagnosed as having Alzheimer's disease (AD) were examined. Each patient underwent MMSE analysis, as well as HMPAO brain SPECT. The severity of SPECT abnormalities was categorized into mild, moderate and severe. Statistical analysis was performed in order to evaluate the correlation between imaging findings and neuropsychological testing. RESULTS: Marginal inverse correlation was found between global MMSE SPECT imaging on right and left side (p = 0.05) and the left temporal region (p = 0.05). MMSE subgroup component of orientation was highly significantly inversely associated with SPECT imaging of right and left frontal region (p > 0.0001). The MMSE subgroup of immediate memory was significantly correlated to left and right temporal regions (p = 0.001 and p = 0.002 respectively). Age was not significantly correlated to global MMSE or any of its subtest components. CONCLUSION: MMSE score has no linear correlation to SPECT perfusion findings. In cases of abnormal orientation score subgroup SPECT imaging is not recommended. In most instances, a combination of both methods should be employed by the general practitioner for further evaluation of dementia.     

Bilateral benign paroxysmal positional vertigo following a tooth implantation

Benign paroxysmal positional vertigo (BPPV) is a common cause of vertigo and may occur following recent head trauma. Bilateral involvement in BPPV is considered rare and has received little attention in the medical literature. We describe an unusual case of bilateral BPPV in a middle-aged woman that presented during a dental implantation, performed with the use of osteotomes. We discuss the diagnostic and therapeutic challenge of this entity.     

Risk factors for death while awaiting lung transplantation in Israeli patients: 1997–2006

OBJECTIVE: Patients with end-stage lung disease very frequently die while awaiting lung transplantation. The aim of this study was to identify factors associated with mortality in patients referred for lung transplant assessment. METHODS: The files of all consecutive patients listed for lung transplantation in Israel between 1997 and 2006 were reviewed and the data were compared statistically between those who survived to transplantation. RESULTS: A total of 229 patients were listed for lung transplantation, of whom 42 (18.3%) died while awaiting transplantation. Comparison of the patients who survived to transplantation with those who did not using univariate analysis revealed that the died-waiting group was significantly older, used steroids to a greater extent, had more IPF patients and less emphysematous, and lower mean oxygen saturation at rest (p=0.005). There were no between-group differences in comorbid diseases or pulmonary function measurements. The 6 min walk distance was strongly and inversely correlated with risk of death before transplantation (p=0.005). On multivariate analysis, only oxygen saturation at rest was a significant independent risk factor for death while awaiting transplantation (OR 0.886; C.I. 0.805-0.974). CONCLUSIONS: There are several risk factors for death in the Israeli population listed for LTX, including age, steroid use, emphysematous patients and lower saturation at rest.     

A rise in pain threshold during labor: a prospective clinical trial

To evaluate changes in pain threshold before, during and after labor in a prospective clinical trial. Forty pregnant women at term were included. Pain threshold in 18 specific pressure points was evaluated using a dolorimeter. Woman underwent pain threshold assessment at term before labor, during the active phase of labor and postpartum. Subjective pain intensity was assessed by the parturient using the Verbal Rating Scale (VRS). Pain threshold was significantly higher during active phase of labor. There was a significant decline in pain threshold after labor as compared to pain threshold during labor (2.507+/-0.947 and 2.608+/-1.023, respectively, p=0.01). Pain intensity using the VRS score was higher during labor than before labor (4.8+/-2.7 and 2.4+/-2.6 p<0.001). We found a significant rise in pain threshold during labor in term pregnancies. This rise may have an intended protective effect during the intense labor pain experience.