Israel Medical Association Journal

Background: Williams syndrome (WS) is a neurogenetic syndrome characterized by a variety of medical conditions and cognitive deficits along with distinct psychiatric and behavioral characteristics. To the best of our knowledge, no studies to date have comprehensively reported the prevalence of medical, cognitive deficits, and psychiatric disorders in one cohort of people with WS in one study.

Objectives: To detail the prevalence of the various clinical features of WS in a large nationwide Israeli cohort. To examine potential risk factors for attention deficit hyperactivity disorder (ADHD) in WS.

Methods: We investigated the effects of cardiovascular anomalies, intellectual quotient (IQ), and phonophobia (fear of sounds) on the likelihood of ADHD. The study included 80 participants with WS (mean age 7.76 years). Relevant medical information from medical records was obtained retrospectively. In addition, IQ testing and psychiatric assessments using structured tools were conducted. The association between ADHD and cardiovascular anomalies, IQ, and phonophobia was analyzed using a logistic regression.

Results: Supravalvular aortic stenosis and supravalvular pulmonary stenosis are the prevalent cardiovascular anomaly in WS. Phonophobia and ADHD are the most prevalent psychiatric diagnoses in people with WS. Phonophobia was significantly associated with the risk for ADHD in WS participants.

Conclusions: Our findings regarding the type and prevalence of medical, cognitive, and psychiatric characteristics in WS correspond to results in previous publications. We also showed a potential link between phonophobia and ADHD that merits further research.

Background: The incidence of post-infectious glomerulonephritis (PIGN) has decreased over the last decades. As a result, recent epidemiological data from industrialized countries are scarce. 

Objectives: To evaluate patterns of PIGN in children and detect possible predictors of disease severity.

Methods: We collected clinical and laboratory data of patients with PIGN admitted to Schneider Children's Medical Center during 1994–2011. Diagnostic criteria included presence of hematuria with/without other features of nephritic syndrome along with hypocomplementemia and/or microbiological/serological evidence of streptococcal infection. Patients with other diseases (systemic lupus erythematosus, vasculitis, etc.) were excluded from the study. 

Results: A total of 125 patients with a mean age of 5.8 ± 3.3 years (range 1.5–17.6), of whom 16% were < 3 years, matched the study criteria. Presenting features included hypertension in 103 (82.4%) patients, azotemia in 87 (70.2%), fever in 49 (40%), and elevated C-reactive protein in 75 (81.5%). Isolated macrohematuria was found in 21 (16%). Full-blown nephritic syndrome was diagnosed in 51 patients (41.1%) and 28 (22.9%) had nephritic syndrome with nephrotic-range proteinuria. Depressed C3 complement levels were associated with the presence of nephritic syndrome (OR 0.73, 95%CI 0.60–0.88, P = 0.001) as well as older age (OR1.24, CI 1.08–1.43, P = 0.001). At last follow-up (mean 42 months) all examined patients (100 of 125) had normal renal function, 6 had hypertension, and 1 had proteinuria.

Conclusions: PIGN remains an important cause of glomerular disease in children and may affect very young patients. Nephrotic-range proteinuria with hypoalbuminemia seems to be more frequent than previously reported. Hypocomplementemia is associated with a more severe disease course, namely, azotemia and nephritic syndrome. 

 

Background: Fine needle aspiration is the main diagnostic tool used to assess thyroid nodules.

Objectives: To correlate FNA[1] cytology results with surgical pathological findings in two teaching medical centers across the Atlantic.

Methods: We retrospectively identified 484 patients at Hadassah University Hospital, Jerusalem and Mount Sinai Hospital, New York, by means of both preoperative FNA cytology and a final histopathological report. Results compared FNA diagnosis, histological findings and frozen section results (Mt. Sinai only).

Results: The sensitivity value of FNA at Hadassah was 83.0% compared with 79.1% at Mt. Sinai (NS). Specificity values were 86.6 vs. 98.5% (P < 0.05), negative predictive value 78.7 vs. 77.6% (NS) and positive predictive value 89.7 vs. 98.6% (P < 0.05), respectively. "Follicular lesion" was diagnosed on FNA in 33.1% of the patients at Hadassah and in 21.5% at Mt Sinai (P < 0.005) with a malignancy rate of 42.5 vs. 23.1% (P < 0.05), respectively. Frozen section was used in 190 patients at Mt. Sinai (78.5%) with sensitivity and specificity values of 72.3% and 100%. Frozen section results altered the planned operative course in only 6 patients (2.5%). Follicular carcinoma was diagnosed in 12 patients at Hadassah vs. 2 patients at Mt. Sinai (P p <0.05).

Conclusion: The sensitivity of FNA at the two institutions was comparable. While malignancy on frozen section is highly specific, it should be used selectively for suspicious FNA results. Follicular lesions and the rate of malignancy in such lesions were more common at Hadassah, favoring a more aggressive surgical approach.

Southern Sinai, a mountainous desolated arid area, is inhabited by Bedouin nomad tribes composed of Arabic-speaking Moslems. Until the Six Day War between Egypt and Israel in 1967, healthcare services in the region were based on traditional medicine performed by the Darvish, a local healer. Over the course of Israeli rule (1967-1982) an elaborate healthcare service was established and maintained, providing modern, up to date, comprehensive medical services that were available to all free of charge.