PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience

Objective: Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn''t have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. Methods: 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions provided by the manufacturer. Findings : The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations. Conclusion: About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms.Key Words: PFAPA, Gaslini Score, MEFV Gene, MEFV Gene Mutations     

Evaluating Medicaid HMOs when encounter data are missing: case of developmentally delayed children

In evaluating Medicaid Health Maintenance Organizations (HMOs), crucial information regarding severity of illness of patients is often missing – in part because encounter data are not available. If we assume that patients are either in the HMO or in fee-for-service (FFS) plans (i.e., no in or out migration); then severity of HMO patients can be deduced from encounters of FFS patients. We applied this approach to effectiveness of HMO services for developmentally delayed children. Data supported the assumption of a closed system. Data also showed that over 12 months, severity of FFS patients declined. Therefore, we inferred that the HMO was attracting sicker patients. The HMO was paid less than FFS plan, despite the fact that it attracted sicker patients.     

Therapeutic emails

Background  

In this paper, we show how counselors and psychologists can use emails for online management of substance abusers, including the anatomy and content of emails that clinicians should send substance abusers. Some investigators have attempted to determine if providing mental health services online is an efficacious delivery of treatment. The question of efficacy is an empirical issue that cannot be settled unless we are explicitly clear about the content and nature of online treatment. We believe that it is not the communications via internet that matters, but the content of these communications. The purpose of this paper is to provide the content of our online counseling services so others can duplicate the work and investigate its efficacy.     

Risk of cranial ultrasound abnormalities in very-low-birth-weight infants conceived with assisted reproductive techniques.

OBJECTIVE: To evaluate risks of cranial ultrasound abnormalities among very-low-birth-weight (VLBW) infants conceived with fertility therapy (ovulation induction only or with assisted reproductive techniques [ART]) and of multiple gestation pregnancies. STUDY DESIGN: The incidences of cranial ultrasound abnormalities in 1473 VLBW infants conceived with and without fertility therapy and born of multiple versus singleton pregnancies were compared, using logistic regression models. RESULTS: Infants conceived with ART were less likely to have intraventricular hemorrhage (IVH). Twins and triplets had risks of cranial ultrasound abnormalities similar to those of singletons. Twins and triplets conceived with ART were at lower risk of IVH. CONCLUSION: VLBW infants conceived with ART do not appear to be at increased risk of cranial ultrasound abnormalities. Likewise, twins and triplets were not at increased risk of these abnormalities.     

The cause and correction of low blood vitamin C concentrations in the elderly

Chronically sick elderly women had low intakes and low blood concentrations of vitamin C. Small dietary supplements of vitamin C increased the concentration of vitamin C in their plasma and leucocytes to those found in both the active elderly and the young. These findings confirm that low concentrations of vitamin C in the institutionalized and chronically sick elderly are primarily due to poor intake and can be easily corrected by dietary changes. The case for increasing the intake of vitamin C in these patients is discussed.     

Unique site- and time-specific patterns of recurrence following resection of colorectal carcinoma hepatic metastases in patients staged by FDG-PET

Background/Purpose

We recently reported that patients staged by positron emission tomography (PET) with F-18 fluorodeoxyglucose (FDG) prior to liver resection for metastatic colorectal cancer had an excellent 5-year survival. In this study, the site- and time-specific patterns of recurrence were examined in patients staged by FDG-PET and the results compared to historical literature control data.

Methods

From March 1995 to June 2002, all patients having hepatic resection for colorectal cancer metastases had preoperative FDG-PET. A prospective database was maintained.

Results

One hundred patients were studied; 48 patients had no evidence of recurrence, 30 patients had recurrence within 12 months of resection, and 22 patients had recurrence after 12 months. Seventy percent of patients with recurrence within 1 year of resection had intrahepatic recurrence. Furthermore, 86% of patients with recurrence more than 1 year after resection had extrahepatic recurrence. We reviewed all published case series of conventionally staged patients. This pattern of early recurrence in the liver and later recurrence in extrahepatic sites has not been reported in any of the conventionally staged series.

Conclusions

There is an interesting difference in the pattern of recurrence of FDG-PET-staged patients and conventionally staged patients who undergo liver resection. Several explanations seem possible. One potential explanation requiring further study is that the pattern of recurrence is due to the convergence of two factors—that FDG-PET more effectively detects extrahepatic disease than conventional staging and that liver resection gives a growth spurt to hepatic metastases.     

Positron Emission Tomography with [18F]-3′-Deoxy-3′fluorothymidine (FLT) as a Predictor of Outcome in Patients with Locally Advanced Resectable Rectal Cancer: a Pilot Study

Purpose

This pilot study was performed to evaluate whether tumor uptake of ¹⁸F-labeled 3′-deoxy-3′fluorothymidine (FLT), a proliferative radiotracer, at baseline and early during therapy, is predictive of outcome in locally advanced rectal cancer.

Procedures

Fourteen patients underwent positron emission tomography (PET) with 2-deoxy-2-[¹⁸F]fluoro-d-glucose (FDG) and FLT before therapy and PET with FLT approximately 2 weeks after initiating neoadjuvant chemoradiotherapy. FLT and FDG uptake were evaluated qualitatively and by maximum standardized uptake value (SUV_max). Tumor FLT and FDG uptake were correlated with disease-free survival (DFS).

Results

Thirteen patients underwent surgery after therapy, one died before surgery with progressive disease. FDG-PET/computed tomography detected regional lymph node metastases in five and FLT-PET was positive in one. High pretherapy FDG uptake (SUV_max?≥?14.3), low during-therapy FLT uptake (SUV_max?<?2.2), and high percentage change in FLT uptake (≥60 %) were predictive of improved DFS (p?<?0.05 for all three values).

Conclusion

Pretherapy FDG uptake, during-therapy FLT uptake, and percentage change in FLT uptake were equally predictive of DFS.