Israel Medical Association Journal

Background: The management of complicated appendicitis is inconclusive. Guidelines have not been established for the use of personalized antibiotic treatment.

Objectives: To investigate specific risk factors to consider during the initial first-choice antibiotic therapy in children with complicated appendicitis.

Methods: This study included all pediatric patients younger than 18 years of age who underwent a laparoscopic appendectomy during 2012–2022 at a single tertiary medical center.

Results: In total, 300 pediatric patients underwent laparoscopic appendectomy due to complicated appendicitis. The patients were treated with ceftriaxone + metronidazole (CM). For 57 (19%) patients, the empirical treatment was changed to tazobactam/piperacillin (TP) due to resistant bacteria or clinical deterioration. The presence of generalized peritonitis during surgery and C-reactive protein (CRP) levels above 20 mg/L at admission were identified as risk factors for changing the antibiotic regimen from CM to TP.

Conclusions: Generalized peritonitis and CRP > 20 gr/L were highly correlated with changing the antibiotic regimen to TP. For such patients, initial treatment with TP may result in clinical improvement and shorter hospitalization. 

Background: Rectal intussusception, rectocele and rectal prolapse are anatomic disorders in obstructed defecation syndrome. A relatively new surgical approach, Stapled Transanal Rectal Resection, was designed to treat these anomalies.

Objectives: To present our preliminary results with this technique.

Methods: Thirty patients with ODS[1] not responding to medical treatment or biofeedback were operated on with the STARR[2] technique. All the patients underwent a complete workup in the Pelvic Floor Unit. The operation was performed according to the technique described elsewhere.

Results: The patients' mean age was 67.1 years, and the median duration of symptoms was 7 years. The mean operating time was 40 minutes (range 35–80 min) and the mean hospital stay was 2 days (range 1–4 days). The mean follow-up was 26 months (range 6–48 months). ODS symptoms were ameliorated in 27 patients (90%), decreased significantly in 18, and in 9 patients the symptoms disappeared. The procedure failed in 3 patients (10%). Complications included minor bleeding that required homeostasis in eight patients during the operation. Three patients had transient tenesmus and five patients had anal pain. There were no cases of mortality or pelvic sepsis.

Conclusions: STARR is an effective and safe procedure for the treatment of obstructed defecation syndrome due to rectal intussusception, rectocele and small rectal prolapse.

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced.

Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs.

Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.
 

Background: Mid- and lower rectum cancer is a technical challenge to the surgeon aiming to preserve the anal sphincter. The choice between abdominoperineal resection and anterior resection is often related to surgical skills.

Objectives: To evaluate the role of a specialized colorectal unit in preserving the anal sphincter mechanism in the treatment of rectal cancer.

Methods: Between 1991 and 1996, 75 patients with rectal cancer up to 12 cm from the anal verge were operated at the Sheba Medical Center. Among them, 21 patients (group 1) underwent surgery in the colorectal unit and 54 patients (group 2) in the other two surgical departments. All patients had a complete preoperative investigation and were followed for 12–90 months.

Results: Background and tumor parameters were similar for both groups. In group 1, 20 patients (95%) had low anterior resection and 1 patient (5%) had abdominoperineal resection as compared to 20 patients (37%) and 34 patients (63%), respectively, in group 2 (P < 0.005). There was no statistical difference in the systemic recurrence rate. Local recurrence was more frequent in group 2 (P < 0.05).

Conclusions: Special training in colorectal surgery enables the surgeon, in keeping with the principles of oncologic surgery, to preserve the anal sphincter mechanism in most patients with adenocarcinoma located in the mid- and lower third of the rectum.

The threat of a disease outbreak resulting from biologic warfare has been of concern for the Israeli health system for many years. In order to be prepared for such an event the health system has formulated doctrines for various biologic agents and defined the logistic elements for the procurement of drugs. During the last 4 years, and especially after the West Nile fever epidemic in 2000, efforts to prepare the healthcare system and the relevant organizations were accelerated. The Director-General of the Ministry of Health nominated a Supreme Steering Committee to fill in the gaps and upgrade the preparedness of the health system for an unusual disease outbreak. This committee and its seven subcommittees established appropriate guidelines, communication routes among different organizations, and training programs for medical personnel. The anthrax outbreak in the United States found the healthcare system in the hub of the preparation process, and all modes of action were intensified. Further work by hospitals, primary care clinics and all other institutes should be initiated to maintain a state of proper preparedness.

Background: The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi anemia complementation group C gene was mapped to chromosome 9q22.3, but its product function is not sufficiently clear. Both are recessive disorders associated with an elevated predisposition to cancer due to genomic instability. A single predominant mutation of each disorder was reported in Ashkenazi Jews: 2281delATCTGAinsTAGATTC for Bloom syndrome (BLM-ASH) and IVS4+4A®T for Fanconi anemia complementation group C.

Objectives: To provide additional verification of the mutation rate of BLM and FACC[1] in unselected Ashkenazi and non-Ashkenazi populations analyzed at the Sheba Medical Center, and to trace the origin of each mutation.

Methods: We used polymerase chain reaction to identify mutations of the relevant genomic fragments, restriction analysis and gel electrophoresis. We then applied the Pronto^TM kit to verify the results in 244 samples and there was an excellent match.

Results: A heterozygote frequency of 1:111 for BLM-ASH and 1:92 for FACC was detected in more than 4,000 participants, none of whom reported a family history of the disorders. The Pronto^TM kit confirmed all heterozygotes. Neither of the mutations was detected in 950 anonymous non-Ashkenazi Jews. The distribution pattern of parental origin differed significantly between the two carrier groups, as well as between each one and the general population.

Conclusions: These findings as well as the absence of the mutations in non-Ashkenazi Jews suggest that: a) the mutations originated in the Israelite population that was exiled from Palestine by the Roman Empire in 70 AD and settled in Europe (Ashkenazi), in contrast to those who remained; and b) the difference in origin distribution of the BS[2] and FACC mutations can be explained by either a secondary migration of a subgroup with a subsequent genetic drift, or a separate geographic region of introduction for each mutation.

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[1] FACC = Fanconi anemia complementation group C