Israel Medical Association Journal

For centuries skin pigmentation has played a major societal role. Genetic disorders of skin pigmentation have therefore always evoked the curiosity of both laypersons and physicians. Normal skin pigmentation is a complex process that begins with the synthesis of melanin within the melanocytes, followed by its transfer to neighboring keratinocytes where it is translocated to the upper pole of the nucleus and degraded as the keratinocyte undergoes terminal differentiation. Mutations in various genes involved in melanocyte migration during embryogenesis, melanin synthesis and melanosomal function and transfer have been shown to cause pigmentation disorders. In the present review, we discuss normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation.

The frequency of pregnancy-associated breast cancer, a rare but serious occurrence, may increase in light of the secular trends for lower parity in general and for an older age at first full-term delivery in particular. Data on PABC[1] in individuals who are at high risk for breast cancer are limited. A computerized search of PUBMED showed that the reported incidence of PABC is 1:3000 pregnancies; it is often diagnosed at an advanced stage and its prognosis is inferior compared to non-PABC. Carriers of mutations in the genes BRCA1/2 may present a specific high risk group for PABC especially at younger ages. Women treated with fertility treatment drugs may be at a higher risk for PABC as well.  

Background: Since surgical repair of tetralogy of Fallot was introduced, follow-up studies have shown that the majority of patients lead actives lives and have no subjective exercise limitation.

Objectives: To examine lung function, cardiopulmonary functional capacity and echo-Doppler assessment of pulmonary pressure in adult patients 20 years after repair of TOF.

Methods: Unselected consecutive patients performed full lung function testing, progressive cardiopulmonary exercise, and echo-Doppler assessments of pulmonary pressure.

Results: Fifty consecutive patients (33 men, 17 women) aged 29 ± 11 years who underwent surgical repair of TOF at age 10.1 ± 10.9 years were enrolled in this study. Patients after TOF showed no restriction (forced expiratory vital capacity 80%, total lung capacity 91%) and had normal oxygen saturation (97%) and 6 minute walking distance (600 meters). Echocardiography showed normal pulmonary pressure and left ventricular ejection function (62%). Cardiopulmonary exercise testing showed mild limitation of exercise capacity with oxygen uptake at maximal effort of 75–78% predicted.

Conclusions: After corrections of TOF the study patients had normal lung function and pulmonary arterial pressure but mild limitation in their exercise capacity.
 

Background: Sarcoidosis is a multisystemic disorder of unknown cause that primarily affects the lungs. The diagnosis is made by the clinical manifestations, radiological findings and histological examination.

Objectives: To review and illustrate the typical and atypical radiological findings of sarcoidosis in the chest.

Methods: We analyzed the radiographic thoracic findings of all patients who had biopsy-proven sarcoidosis over the last 10 years.

Results: There were 100 consecutive patients (36 men and 64 women, age 20–84 years) with an established diagnosis of sarcoidosis. Thoracic lymphadenopathy was detected in 89 patients (89%). Lung parenchyma involvement was found in 60 patients. These changes were variable and included: ground glass attenuation (n=39), multiple small nodules (n= 44) and irregular thickening of the interlobular septa (n=16). Larger nodules (1–3 cm) were identified in 12 patients and frank consolidations were seen in 12 patients. Pleural thickening with subpleural nodules was identified in 17 patients.

Conclusions: Sarcoidosis has a wide variety of radiological manifestations in the chest. Familiarity with the various radiographic findings is important for diagnosis and management.
 

Background: Spontaneous pneumomediastinum is a rare entity that usually occurs in young males without any apparent precipitating factor. Several case series have been published focusing on clinical features, workup and prognosis. Due to the rarity of this entity, there is no consensus on the most appropriate treatment.

Objectives: To describe the clinical characteristics and course of patients with spontaneous pneumomediastinum in our institution.

Methods: This is a retrospective descriptive study based on a review of the charts of all patients discharged from our hospital with a diagnosis of SPM during the period 2000 to 2007. Thirteen patients were identified and information on their clinical presentation, course, hospital stay, investigations and outcome was gathered.

Results: In 70% of patients the presenting complaint of SPM was pleuritic chest pain, while 30% of patients developed SPM in the course of another respiratory illness. Subcutaneous emphysema was the most common clinical finding (46%). Chest X-ray was diagnostic in 12 of 13 patients, and additional tests such as esophagogram and echocardiogram were unrevealing. Leukocytosis and electrocardiographic changes in inferior leads were seen in 30% of patients. Mean hospital stay was 48 hours, treatment was supportive, and symptomatic improvement was usually noted within 24 hours. No recurrences occurred.

Conclusions: SPM is a rare entity that should be considered in patients with pleuritic chest pain. Treatment is supportive, and if no clues for esophageal rupture are present investigations other than chest X-ray are probably not warranted. It is safe to discharge the patient within 24 hours provided that symptomatic improvement is achieved.
 

Background: Secondhand smoke poses a serious health hazard. In Israel The recent passage of a law designed to protect people from secondhand smoke in public places was greeted with controversy. The debate is taking place without data on actual levels of pollution for secondhand smoke in public places.

Objectives: To estimate levels of small respirable suspended particles, atmospheric markers of secondhand smoke, in Israeli bars, pubs and cafes, to compare them with levels in other countries, and to analyze RSP[1] determinants.

Methods: This study was conducted in bars, pubs and cafes in Jerusalem and Tel Aviv prior to passage of the enforcement bill. Venues were randomly sampled from lists available in the local mass media.

Results: The average level of RSPs across all venues, 283 μg/m³, was nearly identical to levels in countries without enforced smoking bans. Bars and pubs had higher values than cafes (P = 0.0101). The effect of smoker concentration was borderline significant (P = 0.0540), with RSP levels increasing as smoker concentration increased. The effect of venue height was also borderline significant (P = 0.0642), with RSP levels decreasing as venue height increased.

Conclusions: Levels of indoor air pollution from secondhand smoke in Israeli bars, pubs and cafes prior to the recent passage of the enforcement bill were similar to levels in countries without enforced smoking bans, and roughly 10 times as high as countries with enforced smoking bans. Whether the new law will successfully promote clean air in Israeli bars, pubs, cafes, and other indoor places is yet to be seen.