Israel Medical Association Journal

Background: Transthyretin (TTR)-associated familial amyloid polyneuropathy (FAP) is an autosomal dominant multisystem disease with neurological and extra-neurological manifestations. It is caused by various mutations in the TTR gene leading to the formation of insoluble amyloid.

Objectives: To describe the clinical and genetic findings in patients with TTR-associated FAP in Israel.

Methods: We evaluated eight patients clinically and genetically during the years 2006 to 2011.

Results: At onset, all the patients exhibited sensory loss of the lower and upper limbs, five patients experienced muscle pain, and one patient had lower limb weakness. Five patients had autonomic nervous system manifestations, and four demonstrated evidence of amyloid cardiomyopathy. Nerve conduction studies showed sensorimotor axonal neuropathy in all patients. Sural nerve biopsies were obtained in five patients; only three biopsies revealed amyloid deposit. In four patients of Yemenite descent, genetic analysis of the TTR gene demonstrated ser77tyr mutation. One patient of Tunisian descent and one Ashkenazi patient harbored the val30met mutation. One patient of Iranian descent showed val32ala mutation, and another Ashkenazi patient showed phe33leu mutation.

Conclusions: TTR-associated FAP is a progressive and fatal disease that exists in the Israeli population and is unproportionally common among Yemenite Jews. This disease may be under-diagnosed and should be considered in the differential diagnosis of any patient with rapidly progressive neuropathy, especially with autonomic involvement or extra-neural features. The absence of amyloid in nerve biopsy should not rule out the diagnosis.  
 

Background: Human milk produced during prolonged lactation (> 1 year) is extraordinarily rich in fat and has a higher energy content than human milk produced during short lactation.

Objectives: To estimate the fatty acid (FA) profile of human milk and to test the hypothesis that the proportion of C12 and C14 (two dietary saturated FA known to most promote hypercholesterolemia) in human milk during prolonged lactation is similar to that in short lactation.

Methods: We conducted a cross-sectional study of 30 mothers of term infants lactating for more than 1 year as compared with 25 mothers of full-term infants who lactated for 2–6 months. Milk was collected by manual expression in mid-breastfeeding.

Results: The two groups did not differ in maternal height, weight, body mass index, diet, infant birth weight and gestational age, but mothers in the prolonged lactation group were significantly older. There was a significant correlation between lactation duration and C12 or C14. The percentage of all FA combined (except for C12 and C14) decreased significantly over time. In contrast, C12:0 and C14:0 combined increased significantly during lactation (R2 = 10.0%, P < 0.03).

Conclusions: Women who lactated for more than 1 year had higher C12 and C14 FA percentages in their milk than women who lactated for 2–6 months.

Background: Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.

Objectives: To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2.

Methods: We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008.

Results: All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder, consistent with an autosomal dominant trait.

Conclusions: DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.
 

Background: Control of diabetes is challenging, and frequent treatment changes are needed. 

Objective: To study the effect of the recommendation to start insulin glargine or insulin determir (long-acting insulin treatment, LAI) at discharge from hospital, on glucose control in the community setting.

Methods: Included were type II diabetes patients who were referred to and received a consultation from the hospital diabetes clinic during their hosptialization, as part of a routine consultation for diabetes management. During the visit, all patients were recommended long-acting insulin-based treatment, as inpatient treatment and at discharge. Follow-up was done by the primary physician in the community or by a community-based diabetes clinic. Glycosylated hemoglobin, glucose levels and other laboratory tests were obtained from the community health records before hospitalization and 6–12 months later. Medical treatment was ascertained by reviewing the actual usage of prescriptions.

Results: Eighty patients (58% males, mean age 64.1 ± 12.7 years) were included in the analysis. HbA1c levels were 10.1 ± 2.4% before admission, but improved significantly at follow-up (8.6 ± 2.2%, P < 0.001). Seventy-one percent of the patients were taking the LAI treatment and the rest were using non-LAI medications. Changes in diabetes control were similar between the LAI and non-LAI groups (HbA1c was reduced by 1.5 ± 3.2% and 1.9 ± 3.1% respectively). The rate of repeated admissions was also similar, averaging at 1.3 admissions for both groups, the minority of which were related to glucose control.

Conclusions: Insulin glargine or determir-based treatment does not show any superiority over other anti-diabetes treatment. It is our opinion that this treatment should be used as tailored therapy and should not be recommended routinely to all patients.
 

Background: The criteria for tonsillectomy for recurrent tonsillitis were established by prospective studies in the pediatric population and are applied to adults as well. No studies have been conducted to assess whether these guidelines are followed. 

Objectives: To examine the eligibility for tonsillectomy of tonsillectomized patients who were referred because of recurrent acute tonsillitis.

Methods: A retrospective case series in an ambulatory military otolaryngology clinic was conducted, and the medical records of 44 tonsillectomized patients who suffered from throat infections in the year before surgery were analyzed. The number of tonsillar infections that met the referral criteria was counted.

Results: The average number of throat infections that met the referral criteria was 1.89 per year. The average number of visits to the clinic due to upper respiratory tract infection was 12.92 (range 2–36) per year. The average number of visits for any cause was 45.13 (range 6–64) per year. One patient with eight documented throat infections met the criteria of more than six infections in the last year.

Conclusion: Although the referral criteria were not strictly met, we speculate that surgery was probably beneficial. This study shows that the indications for tonsillectomy referral are not strictly followed, and that new criteria for referral of adults for tonsillectomy need to be established.

Background: A survey conducted among Israel Defense Force primary care physicians in 2001 revealed that they consider patients' needs more than they do organizational needs and that the education PCPs[1] currently receive is inadequate. In 2003 the medical corps initiated a multi-format continuous medical education program aimed at improving skills in primary care medicine.

Objectives: To measure and analyze the effect of the tailored-made CME[2] program on PCPs’ self-perception 3 years after its implementation and correlate it to clinical performance.

Methods: In 2006 a questionnaire was delivered to a representative sample of PCPs in the IDF[3]. The questionnaire included items on demographic and professional background, statements on self-perception issues, and ranking of roles. We compared the follow-up survey (2006) to the results of the original study (2001) and correlated the survey results with clinical performance as measured through objective indicators.

Results: In the 2006 follow-up survey PCPs scored higher on questions dealing with their perception of themselves as case managers (3.8 compared to 4.0 on the 2001 survey on a 5 point scale, P = 0.046), perceived quality of care and education (3.5 vs. 3.8, P = 0.06), and on questions dealing with organizational commitment (3.5 vs. 3.8, P=0.01). PCPs received higher scores on clinical indicators in the later study (odds ratio 2.05, P < 0.001).

Conclusions: PCPs in the IDF perceive themselves more as case managers as compared to the 2001 survey. A tailor-made CME program may have contributed to the improvement in skills and quality of care.