Israel Medical Association Journal

Background: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.

Objective: To measure bone density in two siblings with the OPPG[1] syndrome as well as in their family members (parents and siblings).

Methods: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (>95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry.

Results: The studies revealed osteoporotic changes both in the patients and the carriers.

Conclusion: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.

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Background: Bleeding in the first trimester of pregnancy is a common phenomenon, associated with early pregnancy loss. In many instances a subchorionic hematoma is found sonographically.

Objective: To evaluate the possible benefit of bed-rest in women with threatened abortion and sonographically proven subchorionic hematoma, and to examine the possible relationship of duration of vaginal bleeding, hematoma size, and gestational age at diagnosis to pregnancy outcome.

Methods: The study group consisted of 230 women of 2,556 (9%) referred for ultrasound examination because of vaginal bleeding in the first half of pregnancy, who were found to have a subchorionic hematoma in the presence of a singleton live embryo or fetus. All patients were advised bed-rest at home; 200 adhered to this recommendation for the duration of vaginal bleeding (group 1) and 30 continued their usual lifestyle (group 2). All were followed with repeated sonograms at 7 day intervals until bleeding ceased, the subchorionic hematoma disappeared, or abortion occurred. The groups were compared for size of hematoma, duration of bleeding, and gestational age at diagnosis in relation to pregnancy outcome (spontaneous abortion, term or preterm delivery).

Results: The first bleeding episode occurred at 12.6 ± 3.4 weeks of gestation (range 7–20 weeks) and lasted for 28.8 ± 19.1 days (range 4–72 days). The women who adhered to bed-rest had fewer spontaneous abortions (9.9% vs. 23.3%, P = 0.006) and a higher rate of term pregnancy (89 vs. 70%, P = 0.004) than those who did not. There was no association between duration of vaginal bleeding, hematoma size, or gestational age at diagnosis of subchorionic hematoma and pregnancy outcome.

Conclusions: Fewer spontaneous abortions and a higher rate of term pregnancy were noted in the bed-rest group. However, the lack of randomization and retrospective design of the outcome data collection preclude a definite conclusion. A large prospective randomized study is required to confirm whether bed-rest has a real therapeutic effect.

Background: Cystinuria is an autosomal recessive disease that is manifested by the development of kidney stones. Mutations in SLC3A1 cause type I disease, while mutations in SLC7A9 are associated with non-type I disease. In Israel cystinuria is especially common among Libyan Jews who suffer from non-type I disease.

Objectives: To compare clinical manifestations of patients with mutations in SLC3A1 to those with mutations in SLC7A9, and to assess the carrier rate among unaffected Libyan Jewish controls.

Methods: Clinical manifestations were evaluated in patients with mutations in SLC3A1 and in patients with mutations in SLC7A9. Carrier rates for two SLC7A9 mutations were assessed in 287 unaffected Libyan Jewish controls.

Results: Twelve patients with mutations in SLC3A1 were compared to 15 patients with mutations in SLC7A9. No differences were detected between the patients with mutations in SLC3A1 and those with mutations in SLC7A9 in relation to the age of disease onset, the estimated number of stones, the number of invasive procedures, the number of patients receiving drug therapy, or the patients’ urinary pH. Eleven of the unaffected Libyan Jewish controls were found heterozygotes for the V170M mutation, establishing a carrier rate of 1:25. The 1584+3 del AAGT mutation was not found in any of the Libyan Jewish controls.

Conclusion: Mutations in SLC3A1 and SLC7A9 cystinuria patients result in indistinguishable disease manifestations. The high carrier rate among Libyan Jews is a result of a single missense mutation, V170M.
 

The ethical chapter of the Israel Medical Association has recently issued guidelines with regard to exual relationships between doctors and patients or past patients. This paper juxtaposes the paternalistic and severe attitude to doctor-patient sex with the relaxation and individualization of decisions regarding doctors' involvement in assisted suicide, passive and active euthanasia. The discussion bears on our concepts of palliative care and our expectations from it.

Background: The chronic progressive course of peripheral arterial occlusive disease with its limb-threatening and life-threatening potential is associated with physical, psychological and social distress for elderly patients and their families.

Objective: To evaluate the influence of infra-inguinal bypass surgery for limb salvage, and social support, on quality of life in elderly patients (over 60 years old).

Methods: Sixty patients aged 60 years and above diagnosed with limb-threatening ischemia were evaluated using the SF-36 generic questionnaire for quality of life, and the MOS-SS questionnaire for social support. Thirty patients (group I) were evaluated in the hospital prior to reconstructive surgery and 30 postoperative patients (group II) were evaluated at home at least 6 months after infra-inguinal bypass operations. Both groups were comparable in terms of age, gender, prevalence of ischemic heart disease, diabetes, and other atherosclerosis risk factors.

Results: All quality of life parameters were higher among patients who underwent limb salvage surgery (group II) as compared to preoperative patients (group I), yet the obtained values were lower than those in the general population. Patients in the surgical intervention group had higher levels of function, lower pain levels, and higher emotional and social well-being and, in addition, were spared limb amputation. The findings also indicate that the social support dimensions (emotional support, receipt of information, affection and positive social interaction), as measured in terms of perceived availability, do not operate as one entity. Different types of social support were more beneficial along different stages of the disease.

Conclusion: Peripheral arterial occlusive disease causes severe impairment of the quality of life in elderly patients. Arterial reconstructive surgery improves the quality of life though it still remains low compared to the general population. Social support is beneficial in the treatment of these patients, and the social worker in the vascular surgery department has a key role in identifying the various needs of the patients along the path of their chronic illness.
 

Background: Primary hyperparathyroidism in elderly patients is usually associated with additional co-morbidity that increases operative risk, and thus many geriatric patients are denied the benefit of surgery for a single parathyroid adenoma.

Objectives:  To evaluate the safety and efficacy of accurate single photon emission computed tomography sestamibi scintigraphy, enabling precise localization of a single adenoma, in the geriatric population

Methods: Twenty-two patients aged 70 years and over with biochemically proven PHPT[1] and with a single parathyroid adenoma identified by localization studies (sestamibi SPECT[2] scan and ultrasonography) underwent 23 operations over 29 months (out of a total of 140 patients operated upon during the same period). Immediate preoperative sestamibi scintigraphy and marking of focal adenoma uptake followed by intraoperative hand-held gamma probe were used for the removal of the parathyroid adenoma by unilateral minimal access surgery. Associated major co-morbid conditions and pre- and postoperative calcium, phosphorus and parathormone levels were recorded. Indications for surgery were listed and operative and postoperative complications were noted. The patients were followed for a mean period of 17.7 months using the same parameters.

Results: The 22 patients with PHPT had a mean age of 76.3 ± 5.9 years (range 70–88 years)  and a female to male ratio of 13:9. Associated co-morbidity included ischemic heart disease (n=15), hypertension (n=22), non-insulin-dependent diabetes mellitus (n=9), chronic obstructive pulmonary disease (n=3), and previous neck surgery (n=3). Mean preoperative serum calcium, phosphorous and PTH[3] were 11.7 ± 1.3 mg/dl, 2.5 ± 0.5 mg/dl and 160.9 ± 75.4 pg/ml respectively. In 20 of the 22 patients, surgery was successful in curing PHPT (91%). One patient had persistent hypercalcemia due to a missed adenoma, and repeat operation (by focused minimal access surgery) was successfully performed 2 weeks later. There were no complications and no morbidity postoperatively. Mean postoperative serum calcium, phosphorous and PTH were 9.6 ± 1.2 mg/dl, 3.0 ± 0.5 mg/dl and 35.2 ± 24 pg/ml respectively. In all patients, serum calcium levels remained normal (9.7 ± 1.3 mg/ml) after long-term follow-up (mean 17.7 ± 9.6 months).

Conclusions: Minimally invasive, radio-guided focused parathyroidectomy for a single adenoma is a safe and effective method to cure hyperparathyroidism in the elderly. Success of surgery is directly related to the surgeon's experience and to the precise localization marking provided by sestamibi scintigraphic SPECT localization and concurrent sonographic findings.

Objective: To reexamine the impact of prolonged nasogastric tube feeding on the oral microbiota and to explore the salivary flow and composition in elderly patients in long-term care.

Methods: We compared a group of elderly patients fed by nasogastric tube with a control group of elderly patients in long-term care who are fed orally. Bacteriologic studies were performed by culturing samples from the oropharynx. Saliva studies included quantitative and biochemical analysis of basal and stimulated salivary flow.

Results: Bacteriologic studies performed in 90 patients revealed a significantly higher prevalence of gram-negative bacteria in nasogastric tube-fed patients (73% vs. 13%, P < 0.001). It is emphasized that Pseudomonas aeruginosa and Klebsiella pneumoniae were commonly and exclusively isolated from the oral flora of the nasogastric tube-fed patients (P < 0.001, P < 0.05). In the saliva studies performed on 23 nasogastric tube-fed and 21 control patients, basal and stimulated salivary flow was not significantly different in the two groups, however the ratio of stimulated to basal flow was reduced in the nasogastric tube-fed group (P < 0.05). Significant differences were also found in the concentrations of sodium, amylase, phosphor and magnesium. Noteworthy was the concentration of uric acid, the main non-enzymatic antioxidant of saliva, which was significantly lower in nasogastric-tube fed patients (P < 0.002).

Conclusions: These findings suggest that prolonged nasogastric tube feeding is associated with pathologic colonization of the oropharynx and with alterations in the saliva that are related to the risk of aspiration pneumonia. Further research is called for, as well as a thorough revision of the existing oral cleansing procedures in these patients.