Israel Medical Association Journal

Background: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD[1]) phenotype.

Objectives: To describe unusual cases with large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype

Methods: Screening for dystrophin gene deletion was performed on genomic DNA by using multiplex polymerase chain reaction. Needle muscle biopsies from the quadriceps were obtained using a BergstrÖm needle. The biopsies were stained with histologic and histochemical techniques as well as monoclonal antibodies to dystrophin 1, 2 and 3.

Results: In three children with large in-frame deletions of the rod domain (exons 10–44, 13–40 and 3–41), early-onset weakness and a disease course suggested the DMD[2] phenotype.

Conclusions: This observation emphasizes the uncertainty in predicting the Becker phenotype in a young patient based on laboratory evaluation, and that the clinical picture should always be considered.

Background: The ¹³C-urea breath test is the best non-invasive test to validate Helicobacter pylori eradication. Serology is unreliable for this purpose due to the slow and unpredictable decline in the antibodies titer.

Objectives: To characterize a specific group of patients who were treated for H. pylori and tested for successful eradication by ¹³C-UBT[1] in our central laboratory and to correlate the eradication success rate with specific drug combinations, and to evaluate other factors that may influence eradication success.

Methods: ¹³C-UBT for H. pylori was performed in the central laboratory of Clalit Health Services. The breath test was performed by dedicated nurses in 25 regional laboratories and the samples were analyzed by a mass spectrometer (Analytical Precision 2003, UK). The physician who ordered the test completed a questionnaire computing demographic data (age, gender, origin), indication, use of non-steroidal anti-inflammatory drugs or proton pump inhibitor, and combination of eradication therapy.

Results: Of the 1,986 patients tested to validate successful H. pylori eradication, 539 (27%) had a positive test (treatment failure group) and 1,447 (73%) had a negative test (successful treatment group). Male gender, older age and European-American origin predicted better eradication rates. Dyspeptic symptoms and chronic PPI[2] therapy predicted treatment failure. Combination therapy that included clarithromycin had a higher eradication rate than a combination containing metronidazole. The combination of omeprazole, amoxicillin and clarithromycin achieved an eradication rate of 81.3%, which was better than the combination of omeprazole, metronidazole and clarithromycin (77.2%) (not significant), or of omeprazole, amoxicillin and metronidazole (66.1%) (P < 0.01).

Conclusion: Gender, age, origin, dyspepsia and PPI therapy may predict H. pylori eradication results. Our findings also support an increase in metronidazole resistance of H. pylori strains in Israel, as described in other countries. We recommend combination therapy with omeprazole, amoxicillin and clarithromycin and avoidance of metronidazole as one of the first-line eradication drugs.

Patients with a compromised immune system suffer a wide variety of insults. Interstitial lung changes are one of the most common and serious complications in this group of patients. The morbidity rate reaches 50% and up to 90% if endotracheal intubation and mechanical ventilation are necessary. Opportunistic and bacterial infections are common causes of pulmonary infiltrates and must be distinguished from other conditions such as drug reactions, volume overload, pulmonary hemorrhage, and malignant diseases. Accurate and prompt diagnosis of potentially treatable causes can be life-saving. Non-invasive diagnostic methods for evaluation are often of little value, and an invasive procedure - such as bronchoalveolar lavage, transbronchial biopsy or even open lung biopsy - is therefore performed to obtain a histologic diagnosis. Yet, even when a specific diagnosis is made it may not improve the patient’s survival. Numerous textbook and review articles have focused on the management of this condition. The present review attempts to provide a comprehensive and systematic picture of current knowledge and an integrated approach to these challenging patients.

Patients with diabetes and/or insulin resistance syndrome are at increased risk for developing cardiovascular disease. The UKPDS raised a great debate about the relative importance of hyperglycemia in the development of cardiovascular disease. Recently, several epidemiologic studies have suggested that high postprandial blood glucose levels are associated with a significant risk for the development of cardiovascular disease as well as a grave prognosis for these patients during acute coronary events. In addition, a number of reports reinforce the thesis that postprandial hyperglycemia is a risk factor for mortality. Our review summarizes the current knowledge on the relation between blood glucose, insulin levels, and cardiovascular morbidity and mortality, relating these data to the new World Health Organization and American Diabetes Association classification of disturbed glucose metabolism.

Birth helpers touch the parturient woman in many ways. They make physical contact to diagnose difficulties and manipulate safe delivery.

They may also touch the woman in non-physical ways, with special words, as they help a woman to give birth. Some hope also for a divine touch, as Jewish tradition teaches that God is a partner in the birth process.

This paper takes a historical look at the different forms of touch used by birth attendants to ease the safe arrival of a healthy infant.

We hope that this short retrospective will encourage today's birth helpers, especially doctors and midwives, to notice how they themselves touch birthing women. We hope to promote awareness of the verbal and non-verbal language of touch and to encourage the use of the art of touch among medical staff who are now more skilled than ever before in applying scientific touch to patients.
 

Background: Damage to the intervertebral disk is usually corrected by means of a prosthesis.

Objectives: To report the outcome of the artificial lumbar disk replacement with the Charité SB III disk prosthesis in 20 patients after a 48 month follow-up.

Methods: The 20 patients were evaluated clinically and radiographically during this period. Preoperative diagnosis included degenerative diskopathy in 17 patients and failed posterior conventional diskectomy in 3. The prosthesis was implanted at one level in 17 patients and bi-level implantation was performed in the other 3 patients.

Results: Eighty percent of patients reported satisfactory to very good results. Poor results were reported by four patients, one of whom underwent posterolateral fusion and another is waiting for the same operation. There were two dislocations of the prosthesis followed by immediate revision surgery.

Conclusions: Contraindications for surgery appear to be the principal cause of failure rather than the prosthesis itself.
 

Background: With the introduction of surgery and percutaneous balloon valvuloplasty for relieving severe mitral stenosis the natural history of the disease has markedly altered.

Objectives: To determine the natural history of patients with moderate mitral valve stenosis.

Methods: Demographic, clinical and echocardiographic data were evaluated in 36 patients with moderate mitral stenosis during a follow-up of 71 ± 15 months.

Results: The 36 patients comprised 32 women and 4 men with a mean age of 43.7 ± 12.2 years; 28 were Jewish and 8 were of Arab origin. During follow-up, there was a significant decrease in mitral valve area, with an increase in mean mitral valve gradient and score. Mean loss of mitral valve area was 0.04 ± 0.11 cm²/year. No correlation was found between disease progression and age, past mitral valve commissurotomy, baseline mean gradient or mitral valve score. Larger baseline mitral valve area (P = 0.007) and Arab origin (P = 0.03) had an independent correlation to loss of mitral valve area. Fifteen patients (42%) did demonstrate any loss in mitral valve area during the follow-up period.

Conclusions: The rate of mitral valve narrowing in patients with moderate mitral stenosis is variable and cannot be predicted by patient’s age, past commissurotomy, valve score or gradient. Secondly, larger baseline mitral valve area and Arab origin showed an independent correlation to loss of mitral valve area; and finally, in many patients valve area did not change over a long observation period.