Israel Medical Association Journal

Attention deficit hyperactivity disorder (ADHD) is among the most prevalent chronic health disorders affecting school-age children. The disorder is the subject of much debate for several reasons, the major one being the diagnostic process, which in some aspects is unstructured and can be relatively easily biased. The impact of undiagnosed or misdiagnosed ADHD on the lives of many children can be severe. Therefore, it is important to understand the complexities of the diagnostic procedure in ADHD, including the cultural bias effect, the limitations of the DSM-IV-TR definitions, the effect of comorbid conditions on the diagnostic process, the gene-environment interactions, and the need to compose an objective, more accurate, and generally accepted diagnostic battery of tests. This review addresses the diagnostic difficulties of ADHD and considers some steps that would make ADHD a more easily identifiable disorder.
 

Background: Transjugular kidney biopsy (TJKB) was first described in 1990. Indications for TJKB include uncorrectable bleeding disorders and conditions precluding the prone position. Objectives: To describe our initial experience with TJKB.

Methods: Between February 2008 and December 2009 all patients in whom percutaneous biopsy was contraindicated or unsuccessful underwent image-guided TJKB using a standard set with a 19 gauge core biopsy needle. Prospectively collected data included indication, number of needle passes, contrast dose, tissue yield, and complications.

Results: Twelve patients, age range 15–76 years (mean 55), underwent 14 TJKB procedures. Indications for the transjugular route included bleeding diathesis, dyspnea, ventral hernia, ascites, marked obesity, need for concomitant liver biopsy or concomitant insertion of tunneled dialysis catheter, discrepant kidney size, and failed percutaneous attempt. Thirteen biopsies were performed in 11 patients; in one patient TJKB was abandoned due to unfavorable renal vein anatomy. Four patients were premedicated with desmopressin and one with platelet transfusion, due to prolonged bleeding time. Three to six passes (mean 3.8) were made per biopsy, with an overall yield of 9.6 ± 8.2 glomeruli, providing a definite diagnosis in nine patients and a probable diagnosis in two. In two patients the first biopsy attempt yielded insufficient tissue, necessitating a repeat procedure. There were two minor bleeding episodes not requiring intervention. Serum creatinine was unchanged after the procedure and hemoglobin levels asymptomatically dropped by 0.3 ± 1.0 g/dl within 48 hours, requiring no treatment.

Conclusions: TJKB appears to safely allow adequate tissue diagnosis in patients at increased risk for complications from or contraindications to percutaneous renal biopsy.
 

Background: Since the identification of the MEFV gene 198 mutations have been identified, not all of which are pathologic. The screening methods used in Israel to test patients suspected of having FMF include a kit that tests for the five main mutations (M694V, V726A, M680Ic/g, M694I, E148Q), and the sequencing of MEFV exon 10 in combination with restriction analysis for detecting additional mutations.

Objectives: To determine the contribution of testing for five additional mutations – A744S, K695R, M680Ic/t, R761H and P369S – to the molecular diagnosis of patients clinically suspected of having FMF.

Methods: A total of 1637 patients were tested for FMF mutations by sequencing exon 10 and performing restriction analysis for mutations E148Q and P369S.

Results: Nearly half the patients (812, 49.6%) did not have any detectable mutations, 581 (35.5%) had one mutation, 241 (14.7%) had two mutations, of whom 122 were homozygous and 119 compound heterozygous, and 3 had three mutations. Testing for the additional five mutations enabled us to identify 46 patients who would have been missed by the molecular diagnosis kit and 22 patients who would have been found to have only one mutation. Altogether, 4.3% of the patients would not have been diagnosed correctly by using only the kit that tests for the five main mutations.

Conclusions: This study suggests that testing for the additional five mutations as well as the five main mutations in patients with a clinical presentation of FMF adds significantly to the molecular diagnosis of FMF in the Israeli population.
 

Background: Community-acquired pneumonia requiring hospitalization is a severe illness with high mortality, especially if the appropriate treatment is delayed. Sometimes diagnosis is difficult due to an equivocal clinical picture or chest film, or to accompanying diseases that mask or simulate pneumonia.

Objectives: To assess the usefulness of certain inflammatory markers to differentiate pulmonary edema from pneumonia throughout the hospital stay in patients admitted for pneumonia or pulmonary edema of non-infectious origin and to monitor the response to treatment.

Methods: The study group comprised 50 patients admitted for pneumonia, 50 admitted for pulmonary edema and 30 healthy individuals. Blood samples for determination of leukocyte count, erythrocyte sedimentation rate (ESR), fibrinogen, C-reactive protein (CRP), albumin, sCD14 and oxidized fibrinogen were drawn upon admission, at 48 and 72 hours after admission, and at discharge from the intensive care unit.

Results: The levels of sCD14 were similar in both patient groups but higher than control levels during the first 48 hours (P < 0.03). They decreased gradually with hospital stay. The concentration of oxidized fibrinogen was similar in both patient groups and significantly lower than that of the healthy control group throughout the hospitalization period.

Conclusions: Oxidized fibrinogen and sCD14 are not reliable markers for the diagnosis of pneumonia, for its differential diagnosis from pulmonary edema, and for patient follow-up throughout hospitalization. The finding of elevated levels of oxidized fibrinogen in the group of healthy controls warrants further study to identify the factors responsible for altering fibrinogen oxidation. The other markers are more indicative.
 

Background: Routine histopathological analysis of bone extracted during total joint replacement is controversial.

Objectives: To evaluate the utility of routine histopathological analysis in total joint replacement.

Methods: We calculated the risk for discrepant diagnosis between the pre- and postoperative histopathological results by performing a meta-analysis of 11 studies (including our data). We also calculated the risk for significant discrepancies.

Results: The discrepant diagnoses analysis showed a random effect of 3% discrepancies (95% confidence interval 1.2–3.7%). Funnel plot indicates a publication bias; consequently, the conclusions from this analysis should be interpreted with caution. Regarding the significant discrepancy in diagnosis, we performed a meta-analysis of nine studies. Fixed-effects analysis of all the studies resulted in 0.16% significant discrepancies (95% CI[1] 0.02–0.30%) with no heterogeneity (Q = 3.93, degrees of freedom = 9, P = 0.14, I² = 49.2%), and appropriate fixed-effects models.

Conclusions: We recommend no further routine histological examination, reserving this tool for cases with a controversial primary diagnosis and unexpected findings during the operation.

Background: The diagnostic and therapeutic approach to hilar cholangiocarcinoma and thus the prognosis have changed significantly over the last two decades. Nonetheless, hilar  cholangiocarcinoma  presents a complex surgical challenge.

Objectives: To assess the outcome of the radical approach for the management of types III and IV hilar  cholangiocarcinoma.

Methods: We conducted a retrospective single-center study. Preoperative diagnosis was based on ultrasound, computed tomography and selective percutaneous cholangiography without tissue diagnosis. Surgery was radical and included en-bloc liver, extrahepatic biliary tree and hilar lymph nodes resection, followed by biliary reconstruction with hepatico-jejunostomy.

Results: Fifteen patients (mean age 49 years, range 24–72) were managed accordingly. Anatomic classification of the biliary involvement was Bismuth-Corlette type IIIA (n=4), type IIIB (n=3) and type IV (n=8). The surgical procedures performed included four right hepatic lobectomies, five left hepatic lobectomies and six trisegmentectomies (all extended to the caudate lobe). Complete negative resection margins (R0) were accomplished in 12 cases (80%). Regional lymph node metastases were detected in five cases. There were two perioperative mortalities. Long-term follow-up (mean 30 months, range 6–72) revealed local recurrences in two cases, distant metastases in three, and both local and distant in two cases. Eleven patients are alive and 6 are without evidence of disease. The overall 2- and 5-year survival is 78% and 38% respectively.

Conclusions: In selected patients, the aggressive surgical approach to hilar cholangiocarcinoma is justified and can result in long-term survival.
 

Background: Infertility is one of the most prevalent health disorders in young adults.

Objectives: To study the distribution of causes of infertility in couples referred to primary infertility clinics in Israel.

Methods: Data for a 9 year period were derived from two clinics of major women's hospitals run by the country's largest health insurance funds. All patients were treated by one physician. Laparoscopy was not performed to rule out endometriosis.

Results: Of the 2515 couples identified, 1991 (79.2%) had a definitive diagnosis following complete workup (including hysterosalpingography). Mean age was 29.6 ± 6.0 years; mean duration of infertility was 1.7 ± 1.8 years. Primary infertility accounted for 65% of cases. Causes of infertility were male factor (45%), oligo-ovulation disorders (37%), and tubal damage (18%). Infertility factors were identified in the woman alone in 30.6% of cases and the man alone in 29.2%. Two combined infertility factors were found in 18% of patients, and three combined factors in 0.5%. The rate of unexplained infertility (which probably includes non-tubal endometriosis) was 20.7%.

Conclusions: As male factor accounts for almost half of all cases of infertility in couples, sperm analysis is mandatory before any treatment.
 

Background: Most aspects of attention-deficit/hyperactivity disorder diagnosis rely on subjective judgment. Computerized continuous performance tests are designed to improve the validity of the process but are controversial due to low odds ratios. There is a need to find more definitive measures of assessment.

Objectives: To test the validity and reliability of a new tool, a computerized continuous performance functions test, which includes a multi-task approach designed to achieve a higher odds ratio of assessment.

Methods: We applied this test to 58 children aged 6–12 years: 45 were diagnosed as ADHD[1] and 13 non-ADHD children served as a control group.

Results: The CPF[2] test was able to differentiate between non-ADHD and ADHD children. CPF test results were more accurate than other continuous performance tests. The results were statistically significant in all test parameters, confirming the test's validity and reliability. 

Conclusions: The CPF test includes a combination of tasks based on an algorithm designed to test several domains of attention. In this pilot study the CPF test was found to be a valid and reliable tool for the diagnosis of ADHD in children. This test might increase the diagnostic utility of computerized tests. The research points to the need for developing a more definitive process for ADHD diagnosis.