Israel Medical Association Journal

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced.

Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs.

Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.
 

Background: Studies have found ethno-cultural disparities in health care delivery in different countries. Minority populations may receive lower standards of care.

Objectives: To test a hypothesis that Jewish Ethiopian women may be receiving less preventive recommendations than other women in Israel.

Methods: A telephone survey was conducted using a structured questionnaire designed specifically for this study in Hebrew, Russian and Amharic (Semitic language of Ethiopia). The study group included 51 post-menopausal women of Ethiopian origin, aged 50–75. The control group included 226 non-Ethiopians matched by age, some of whom were immigrants from the former Soviet Union. The questionnaire dealt with osteoporosis and breast cancer screening and prevention.

Results: All the parameters measured showed that the general population received more preventive treatment than did Jewish Ethiopian women, including manual breast examination, mammography, osteoporosis prevention, bone density scans, and recommendations for a calcium-rich diet, calcium supplementation, hormone replacement therapy, biphosphonates and raloxifen. On a logistic regression model the level of knowledge of the Hebrew language, age, ethnicity and not visiting the gynecologist were significantly related to not having received any preventive medicine recommendations.
Conclusions: Differences in cultural backgrounds and language between physicians and their patients may become barriers in the performance of screening and preventive medicine. Recognizing this potential for inequity and using methods to overcome these barriers may prevent it in the future

The human papillomavirus family of viruses causes a variety of benign, premalignant and malignant lesions in men and women. All cervical cancers are caused by HPV[1]. It is the leading cause of death from cancer in women in developing countries; every year some 493,000 women develop cervical cancer and 230,000 women die every year of this disease. The vaccine against HPV includes virus-like particles, composed of the major viral capsid protein of HPV without the carcinogenic genetic core. Large-scale studies have shown that the vaccine is tolerated well, leads to high antibody levels in both men and women, and prevents chronic HPV infection and its associated diseases. To achieve effective coverage the vaccine should be given prior to sexual debut. Introduction of the vaccine into specific countries, particularly Israel, should take into account the local incidence of cervical cancer as well as the increasing incidence of precancerous cervical lesions and genital warts, which reduce quality of life and are associated with considerable costs.

Rembrandt van Rijn (1606–1669) left behind the largest collection of self-portraits in the history of art. These portraits were painted over a period of 41 years, using a realistic technique. To evaluate Rembrandt's aging process we studied 25 uncontested Rembrandt oil self-portraits by means of objective and descriptive techniques. By measuring brow position changes through the years, we demonstrated that brow descent started in the second half of the third decade and began to level out in the fourth decade. Based on Rembrandts' aging physiognomy, from age 22 to 63, we believe that Rembrandt did not suffer from temporal arteritis, hypothyroidism, rosacea, or rhynophima and that no other facial signs of systemic diseases are evident, contrary to the opinions expressed by other medical professionals. We suggest that Rembrandt suffered from melancholia or mild depression, and propose the possibility of chronic lead poisoning as a theoretical illness that he might have had.

Inherited forms of proteinuria constitute a rare and heterogeneous group of diseases, the most prominent of which is glomerular dysfunction, which leads to proteinuria. Investigation of the genetic background underlying these diseases has provided significant data on the normal operation of the glomerular filter. Among the different components of the glomerulus, the podocyte slit diaphragm is considered the main source for genetically derived protein alteration, which leads in turn to proteinuria. Investigation of the different proteins revealed that the lack of nephrin and podocin is the leading cause of several inherited forms of proteinuria. It was also proposed that the lack of podocin is linked to cardiac anomalies. This review suggests that the absence of slit diaphragm proteins and the open zipper phenomenon are associated with cardiac anomalies.