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Introduction: Following the recent human genome revolution, novel technologies have been developed in the last decade enabling advanced sequencing tests, including genetic panel tests that focus on groups of specific genes associated with a certain medical condition (phenotype). Since the process of assembling a genetic panel may be complex and requires significant manpower and time, it is important to define the most common and requested panels, for gradual construction and introduction of panel tests starting with the most common., Aims: Since no information was found in the literature defining the common panels, the aim of the study was to define the indications for performing a gene panel within the framework of the provided services, and to estimate their frequency., Methods: Prospective data acquisition was performed by a party responsible for approval of panel tests within Clalit Health Services Organization. The indications for all approved panel tests were registered since the launch of Clalit's Genomic Center. The total number of indications was counted, and according to the Pareto principle, 20% of the most frequent indications were chosen. In addition, the indications were divided into main medical disciplines., Results: Overall, 132 indications were recorded for approved gene panel tests; 20% of these indications, i.e. the first 26 indications in terms of frequency, covered 79.6% of the cases. The most frequent approved panels were epilepsy (10.4%, confidence interval (CI) 8.5-12.6%), Maturity-onset diabetes of the young (MODY) (9.6%, CI 7.8-11.7%), cardiomyopathy (8.3%, CI 6.6-10.3%) and hearing impairment (7.6%, CI 6.0-9.6%). The most common disciplines in descending order were neurological diseases (23.0%, CI 20.3-25.9%), endocrinology (13.1%, CI 11.1-15.6%), heart diseases (9.0%, CI 7.3-11.1%) and eye diseases (7.8%, CI 6.2-9.8%)., Conclusions: A review of panel approvals at the Genomic Center of Clalit showed a number of frequent indications., Discussion: We believe this information can be useful for the establishment of genomic laboratories, as well as for the improvement of the service to the patients, by enabling the referral for specific panel tests by medical experts who are not geneticists or genetic counselors, after appropriate training (such as the "Genetics First" program of Clalit).

Introduction: The accumulated data in recent years on the safety of laparoscopy in colorectal cancer patients encourage more surgeons to use this approach for different colorectal pathologies. However, laparoscopic colorectal surgery consists of different heterogeneous complex procedures that necessitate extensive experience and laparoscopic surgical skills, Purpose: To evaluate safety, levels of difficulty and oncological outcome in a consecutive series of patients that underwent elective laparoscopic colorectal surgery during a 5-year period., Methods: Evaluation of our prospective collected data of patients that underwent laparoscopic colorectal surgery during a 5-year period by our surgical team., Results: A total of 300 patients were operated on electively for different indications during this time period. Indications for surgery included cancer (58%), benign polyps (16%), Crohn's disease (6%), diverticular disease (10%) and others (10%). Operations for diverticular disease were associated with higher conversion rates and operative times. The mortality rate was 0.3% (one patient). There were 4.6% major surgical complications that necessitated a second operation and another 4.6% moderate surgical complications that were treated conservatively. Wound infection occurred in 7.2% of all patients. The conversion rate was 14.3%. A total of 171 patients underwent operations for curable colorectal cancer. In this group, the mean number of harvested nodes was 16 and 2-year disease-free survival was 87%. Stage I patients had no recurrent disease during follow-up time., Conclusions: Laparoscopic colorectal surgery is safe. Immediate oncological results and 2-year survival in colorectal cancer patients, as demonstrated in our study, are adequate and comparable to the open approach. The authors believe that adequate results in laparoscopic colorectal operations can be achieved by a dedicated laparoscopic colorectal team.

Introduction: Anorectal fistulas are a communication between the anal canal or the rectum to the perineum, which are generally formed by an infectious process of the submucosal glands. Surgery is the treatment of choice for these fistulas with preservation of the anal sphincters function, and hence continence, mandatory. Recently, however, some articles published suggested that the use of anal fistula plugs, instead of surgery, leads to better results. This study was designed to evaluate the use of anal fistula plugs in patients with trans-sphincteric anal fistulas., Methods: A series of 10 consecutive patients were treated in our proctology department for complex fistulas with anal fistula plugs and were evaluated with subsequent follow-up. During the operation the fistula tract was identified and the plug was inserted and fixed by internal and external sutures., Results: Ten patients, with a median age 40.8 years were included. There were 6 males and 4 females. At median length of follow-up of 12 months [range: 8 to 16 months] 5 of the 10 fistulas had healed (50%)., Conclusion: The anal fistula plug is successful in the treatment of anorectal fistulas. Due to its low morbidity rate the insertion of anal fistula plugs should be considered instead of surgery.

Constipation has always been a common problem but recently it appears to be on the rise in the western world. Its prevalence in the general population is estimated at around 20% with reports suggesting significantly higher levels in the elderly, especially above the age of 65. There have also been reports of females being affected more then males, Higgins et al reporting a male to female ratio of 1: 2.2. Constipation can be classified as either primary or secondary. Primary constipation is either due to prolonged transient time through the colon (colonic inertia) or a disturbance in defecation with normal transient time. Secondary constipation is either due to medications or other medical diseases for example hypothyroidism, diabetes or Parkinson's disease. In the past several years advances have been made in understanding the physiological and pathophysiological processes of normal and abnormal defecation. This has led to the understanding of transient time, sensation and pressure build-up in the rectum and anus as well as the key role of synchronization between contraction and relaxation of the involved muscles and sphincters. Disturbance in any one of the above mentioned processes can lead to constipation. The obstructed defecation syndrome has been shown to be the result of an abnormal function of the muscles involved in defecation or an anatomical abnormality of the pelvic organs. Obstructed defecation syndrome is estimated to be prevalent in 7% of the adult population and is judged to be the cause of one third of all cases of constipation. Due to the fact that surgery is an emerging treatment of choice for these patients suffering from obstructed defecation syndrome, it is highly important that we should not only be able to diagnose the cause of constipation in patients but accurately identify those suffering specifically from obstructed defecation syndrome. Therefore, this paper reviews the definitions, symptoms, pathophysiology, diagnosis and treatments of obstructed defecation syndrome.

Perianal mucinous adenocarcinoma is an unusual but well described malignancy constituting approximately 3 to 11% of all anal carcinoma. The pathology is thought to develop from one of three types, the distal part of the rectum, the mucin-secreting columnar epithelium of the anal glands, and from chronic fistula-in-ano. The association of carcinoma with anal fistula may manifest itself in several ways: a fistula may be associated with cancer elsewhere in the colon; cancer may present as a fistula; or cancer may develop in anal fistula. Mucinous adenocarcinoma of the anus supervening on a long-standing chronic anal fistula is an extremely rare disease with less then 150 cases reported in the literature, mainly single patient reports. The key to long-term survival seems to be a high index of suspicion in those patients with longstanding perianal fistula. Chemotherapy in combination with external beam radiation followed by abdomino-perineal resection seems to be the most appropriate therapy.

Proctalgia Fugax is a benign, self-limiting disease characterized by episodes of intense pain in the anorectal area occurring at infrequent intervals. It is common, but most suffers do not seek medical advice. Although its classical symptomatology was describe more than a century ago, the etiology is unclear. Theories regarding the etiology have centered on alteration in the internal anal sphincter function and morphology. For most patients after gathering a detailed history, reassurance and warm baths will suffice. In persistent cases therapies that induce internal anal sphincter relaxation are the main treatment modalities.

Methemoglobinemia is characterized by cyanosis with various degrees of severity. Symptoms range from asymptomatic to unconsciousness and death. Although cyanosis caused by methemoglobinemia is well-documented in the literature, it is rare and the consequences can be fatal. The cause of methemoglobinemia can be environmental, acquired, congenital or a combination of the above. Among the potential sources for methemoglobinemia are local anaesthetics that are in common use in hospitals and clinics, some of which can be purchased without prescription. Although these drugs are considered to be safe, they can still induce methemoglobinemia and can be life-threatening. In this review we describe patients admitted to the Pediatric Intensive Care Unit during the year 2000 suffering from cyanosis and diagnosed as having methemoglobinemia.

Introduction: We report the early results of 30 patients treated by stapled hemorrhoidectomy., Patients and Methods: Thirty patients with symptomatic grade 2-4 hemorrhoids were treated by stapled hemorrhoidectomy. The procedure was performed with a 33 mm diameter automatic hemorrhoidal circular stapler. The patients were prospectively evaluated for immediate and functional recovery, postoperative pain and subjective success of the treatment., Results: The median age of the patients was 46.2 years, and the median duration of the symptoms was 27 months. The main symptom was bleeding (in 96% of the patients). The average operative time was 22 minutes. The operation was performed with spinal (63.3%) or general (36.7%) anesthesia. There was no mortality, urinary retention, incontinence, fecal urgency or persistent pain. One patient, who was under anticoagulant treatment, had postoperative bleeding, which required transfusion of 3 units of blood, and another patient was operated on because of perforation of the sigmoid colon. Most patients (twenty eight) had complete functional recovery and returned to their usual daily activities within 10.4 days. Postoperative pain and subjective success were evaluated by a 1 to 10 scale. The average pain score decreased from 5.8 on the first postoperative day to 2.4 on the 7th postoperative day. The average satisfactory score was 9.2., Conclusion: Stapled hemorrhoidectomy is an alternative to conventional surgical hemorrhoidectomy. The procedure seems to be associated with less postoperative pain and early recovery with a high satisfaction rate among patients.

Purpose: The goal of this study was to evaluate whether commercially produced fibrin sealant can be used for the treatment of complex anorectal fistulae., Methods: Fibrin glue was used for patients with primary and recurrent ano-rectal fistulae, but patients with Crohn's disease or AIDS were excluded. The procedure was performed under anesthesia in the operating room. The primary and secondary openings were identified using blue dye. The secondary opening and the tract of the fistula were curetted, and 4 ml of fibrin sealant were injected through the secondary opening until fibrin sealant was seen coming from the primary opening. The patients were discharged on the next day following the procedure, and were followed-up closely in the outpatient clinic., Results: Fifteen consecutive patients underwent one trial of fibrin glue injections. The average follow-up period was 4 months. Overall, eleven of the 15 patients (73.3%) had successful closure of their fistulae. The healing rates for intersphincteric, transsphincteric and suprasphincteric were 50%, 77.7% and 100% respectively. Fibrin glue treatment was effective in five out of the 6 patients (83.3%) who were operated on for recurrent fistulae. Of the 4 patients in whom the treatment failed, the mean time for recurrent symptoms was 4 weeks. No patient suffered from fecal or gas incontinence and all of the patients returned promptly to routine life., Conclusion: Sealing the tracts with fibrin glue is a unique mode for the treatment of ano-rectal fistulae, and our preliminary results with this technique are promising. The procedure is safe and easy to perform, and can be offered as an alternative to conventional surgery. Most importantly, this method minimizes the risk of fecal incontinence and the discomfort of prolonged wound healing.

Photodynamic therapy (PDT) is a noninvasive modality used topically for several skin cancers. We evaluated the effects of PDT on basal cell carcinoma (BCC) of the nose, using aminolevulinic acid (ALA) as a photosensitizer and a non-laser light source (Versa-Light). The advantages of this light source are synergistic, hyperthermia and fewer side effects. A paste of 20% ALA was applied topically to biopsy-proven BCC of the nose. Lesions were covered with occlusive light-shielding dressing and after 18 hours they were submitted to 10 minutes of exposure to the light. Initial evaluation was made after 21 days and every 3 months thereafter. Patients who did not respond after 2 treatments were referred for surgery. Mean follow-up in 31 patients was 19 months (range 6-36). There were no significant side-effects. There was complete response in 24/27 (88.9%), in whom there was recurrence in 2/27 (7.4%).

The incidence of appendiceal diverticulosis in pathologic specimens is 0.004-2.1%. Diverticular disease of the appendix is classified as congenital (true) or acquired (false). The clinical presentation differs from that of acute appendicitis. The average age is older, the pain is often intermittent, and while localized in the right lower abdominal quadrant, is of longer duration. No further treatment besides appendectomy is needed. Since a high rate of perforations, peritonitis and lower gastrointestinal bleeding have been reported as complications, it is recommended that in those with an incidental finding of diverticula of the appendix during surgery, that appendectomy be performed. It is not recommended to perform prophylactic appendectomy when diverticula of the appendix are found on barium enema.