Israel journal of medical sciences最新文献

Malignant hyperthermia (MH), a rare pharmacogenetic trait, can be lethal when susceptible individuals are exposed to triggering agents during general anesthesia. We present our experience with the caffeine-halothane in vitro contracture test (IVCT) for the diagnosis of malignant hyperthermia susceptibility. Out of 75 patients that were referred for consultation to the MH diagnostic center over a period of 7 years, we performed muscle biopsies and IVCT in 21 patients. A total of 6 patients were found to be MH-positive. Appropriate recommendations for future anesthetic management, and additionally, for testing the immediate family were made following a positive diagnosis. Improved familiarity with the syndrome of MH, and performance of IVCT when family or clinical history suggest malignant hyperthermia susceptibility, are imperative measures to prevent the potential fatality associated with this syndrome.

A splenic space occupying lesion, in a 45-year-old woman, was negative in a Tc-99m-RBC spleen scan. A diagnostic splenectomy was performed and the lesion was found to be a vascular tumor, lately identified as littoral cell angioma. The histological and immunohistochemical findings are discussed in correlation with the imaging results.

The increasing interest in arterial duct flow patterns in the fetus warrants the establishment of an accurate range of normal flow parameters throughout gestation. We therefore undertook a prospective echocardiographic study of 181 normal fetuses from the 16th to the 40th week of gestation. Adequate Doppler interrogation of the duct was obtained in 71% of the fetuses examined. Peak gradient, mean gradient and flow velocity integral in systole and diastole were digitized. The peak systolic gradient throughout pregnancy measured 2.7 +/- 1.4 mmHg with a slight tendency to increase with gestational age (r = 0.58). The peak ratio, defined as peak systolic gradient divided by peak diastolic gradient (28.1 +/- 14.9), did not vary significantly with gestational age. This time-independent index complements peak systolic flow in the assessment of normal and abnormal ductal flow. The definition of the normal range for ductal flow parameters, based on this relatively large fetal population, should facilitate the accurate diagnosis of fetal duct constriction.

A psoas abscess-like metastasis of squamous cell carcinoma of uterine cervix was diagnosed in a 50-year-old, HIV-negative woman. While there was complete regression of the primary tumor, the psoas cystic lesion grew in size during chemotherapy, with iliac bone destruction and invasion to the gluteus muscle. A computed tomography-guided bone biopsy was done and histopathologic examination revealed squamous cell carcinoma consistent with the primary lesion. Intratumoral injection of cisplatin and radiotherapy resulted in partial relief of symptoms. This form of aggressive, bone destruction metastasis was hitherto reported only in association with AIDS.

In chronic renal failure, epidermal growth factor (EGF) excretion is decreased. In this study, asymptomatic adult polycystic kidney disease (APKD) patients with a relatively preserved glomerular filtration rate were examined. Excretion of EGF was studied in 6 patients with APKD (median age 42 years; serum creatinine [median] 95 [range-80-133] mumol/l) and compared with that of 28 healthy controls. EGF was determined in a spot morning urine by using a specific radioimmunoassay, and expressed in relation to creatinine excretion. Excretion of EGF in APKD was (median) 157 (range-13-359) and in the controls (median) 546 (range-238-1199) pmol/mmol creatinine (p < 0.001). Low excretion of EGF in APKD patients with preserved kidney function suggests a distal abnormality at an early stage of the disease, prior to the development of renal failure.

The current recommendations for childhood cholesterol screening include screening children in whom 1) a parent/grandparent has premature heart or vascular disease or died suddenly; 2) a parent has an abnormal lipid profile; 3) the family history is unobtainable. Over a 3-year period, 256 children referred for hypercholesterolemia were evaluated for heritable hyperlipidemia. We reviewed their family histories and obtained lipoprotein profiles of all of their immediate family members. Of these families, 89 parents had unsuspected hypercholesterolemia of whom 38, whose average age was 36 years, died of a myocardial infarction. In addition, 83 children with no family history of premature coronary artery disease or hypercholesterolemia, were diagnosed with inherited hyperlipidemia (25 with hetrozygous familial hypercholesterolemia, and 58 with familial combined hyperlipidemia). Thus, many adults have no awareness of hyperlipidemia prior to a fatal heart attack, nor of their children as having hyperlipidemia, and a large percentage of children with inherited hyperlipidemia would not have been diagnosed if all of their immediate family members (parents and siblings) had not been screened for a complete lipid profile. These results suggest that in addition to screening, all family members of hypercholesterolemic children, pediatricians and family practitioners should urge parents who may be unaware of their cholesterol levels or have no knowledge of their family history to undergo cholesterol screening in order to comply with NCEP guidelines calling for serum cholesterol measurements in all adults above the age of twenty.

The aim of this work was to study the frequency of speech disorders in Israeli Arab children and its association with parental consanguinity. A questionnaire was sent to the parents of 1,495 Arab children attending kindergarten and the first two grades of the seven primary schools in the town of Taibe. Eight-six percent (1,282 parents) responded. The answers to the questionnaire revealed that 25% of the children reportedly had a speech and language disorder. Of the children identified by their parents as having a speech disorder, 44 were selected randomly for examination by a speech specialist. The disorders noted in this subgroup included errors in articulation (48.0%), poor language (18%), poor voice quality (15.9%); stuttering (13.6%), and other problems (4.5%). Rates of affected children of consanguineous and non-consanguineous marriages were 31% and 22.4%, respectively (p < 0.01). We conclude that speech disorders are an important problem among Israeli Arab schoolchildren. More comprehensive programs are needed to facilitate diagnosis and treatment.