Israel Medical Association Journal

Background: The national program for the prevention of Down syndrome includes screening (using the triple test) and invasive diagnostic tests in women at risk for a Down syndrome pregnancy. However, despite the program, the majority of Down syndrome infants are born alive (approximately 1/1000 live births)

Objectives: To determine whether the relatively high incidence of Down syndrome at birth in Israel is the result of failure of the preventive program or due to informed choices of the mothers.

Methods: We conducted a retrospective study using the national registry of Down syndrome for the years 1997 and 2004, according to the mothers' religion and place of residence and the reasons for prenatal diagnosis.

Results: Most of the babies affected with Down syndrome are born in religious or traditional conservative communities where termination of pregnancy is usually not an option.

Conclusions: In a pluralistic society like Israel with its diverse communities and dissimilar religious backgrounds and traditions, the different attitudes concerning utilization of the national program should be respected. It is necessary to tailor different approaches and solutions for the various ethnic and religious communities according to their need.
 

Renal vein occlusion in adults is usually a result of vein thrombosis, which is frequently associated with the nephrotic syndrome. The anatomy of renal vascularization is of primary importance for understanding its pathophysiological responses and the clinical and diagnostic presentation of patients with this condition. The reaction of the kidney to its vein occlusion is determined by the balance between the acuteness of the disease, extent of the development of collateral circulation, involvement of one or both kidneys and the origin of the underlying disease. Renal vein occlusion is generally a complication of some other condition, but may also occur as a primary event. The main goals of therapy should be to conserve renal parenchyma in order to maintain renal function and prevent thromboembolic phenomena.

Background: Testicular torsion associated with undescended testis is uncommon but requires immediate treatment. Ultrasound Doppler is recognized as the preferred imaging modality for testicular torsion due to its high specificity, sensitivity and availability.

Objectives: To determine the accuracy of ultrasound Doppler in diagnosis of torsion of undescended testis.

Methods: We describe three patients with known undescended testis who were admitted with groin pain and had preoperative ultrasound Doppler. The discrepancy between these and the intraoperative findings is discussed.

Results: In two patients incarcerated inguinal hernia was diagnosed with ultrasound Doppler; however, surgery revealed torsion of an undescended testis. In the third patient ultrasound Doppler diagnosed torsion of undescended testis, but at surgery incarcerated inguinal hernia was found, without evidence of testicular torsion.

Conclusions: Torsion of undescended testis should be a clinical rather than radiologic diagnosis.
 

Objectives: To study the necessity of bone marrow examination for the diagnosis and clinical course of MGUS[1].

Methods: We retrospectively screened the medical records of all patients in whom monoclonal protein was found in the serum during 2001–2002 in the medical laboratories of Sapir Medical Center. Asymptomatic patients who had serum monoclonal immunoglobulin G < 3.0 g/dl or IgA[2] < 2.0 g/dl or IgM < 1.0 g/dl without anemia, renal failure, hypercalcemia or any bone lesions on skeletal survey were eligible. Full records of patients who were evaluated in the hematology clinic were available (group 1). The remaining patients were followed by their family physicians; thus we had access only to their electronic files including laboratory results and new diagnoses (group 2). Demographic and clinical parameters as well as clinical course were evaluated.

Results: Both groups (57 and 255 patients, respectively) had similar demographic, laboratory and clinical characteristics. Bone marrow examination was performed in 30 of 57 patients (group 1): 16 were normal, 8 had an excess of normal plasma cells, and 6 had excess of pathologic plasma cells. However, only in two of the latter six could a diagnosis of multiple myeloma be established. All group 1 patients were followed for 22 ± 11 months and only two developed overt multiple myeloma. During the same period, 6 of 255 patients (group 2) were diagnosed as multiple myeloma and 3 as MGUS in other hospitals. The rest had a stable course with no change in their laboratory values.

Conclusions: Our findings suggest that bone marrow examination should not be performed routinely in patients who fulfill strict clinical and laboratory criteria of MGUS.

Objectives: To describe patients with initially misdiagnosed PTP[1] and to emphasize the diagnostic pitfalls of this disorder.

Patients and Results: During a period of 11 years we have diagnosed six patients with PTP, four women and two men. The incidence of PTP was approximately 1:24,000 blood components transfused. We present the detailed clinical course of three of the six patients in whom the diagnosis was particularly challenging. The patients were initially misdiagnosed as having heparin-induced thrombocytopenia, systemic lupus erythematosus complicated by autoimmune thrombocytopenia, and disseminated intravascular coagulation. A history of recent blood transfusion raised the suspicion of PTP and the diagnosis was confirmed by appropriate laboratory workup.

Conclusions: PTP seems to be more frequent than previously described. The diagnosis should be considered in the evaluation of life threatening thrombocytopenia in both men and women with a recent history of blood transfusion.

Objectives: To investigate the incidence of splenic emboli treated in a single general internal medicine department over the last 3 years.

Methods: We examined the records of a 35 bed internal medicine department in a hospital in the center of Israel.

Results: Over a period of 3 years 13 patients admitted to one internal medicine department developed acute abdominal pain and areas of hypoperfusion in the spleen on contrast computed tomography imaging. The patients were treated with anticoagulants, their course was benign and there were no long-term sequelae.

Conclusions: Embolus to the spleen is not rare in an internal medicine department. Diagnosis can be easily made by contrast CT scanning and treatment with anticoagulants results in a good prognosis. 

Chronic periaortitis is a rare disease affecting the abdominal aorta, usually below the level of the renal arteries.

We present the case of a 14 day old baby in whom we observed the evolution of idippathic hypertrophic pyloric stenosis.