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1.
J Pediatr Adolesc Gynecol ; 21(6): 317-21, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19064224

ABSTRACT

Congenital distal vaginal obstruction is a rare condition, usually asymptomatic until menarche, thus often diagnosed only during puberty. Hydrometrocolpos is caused by such an obstruction, only when reasonable amounts of fluid are secreted from the mucosal lining of the genital tract. This presentation may be symptomatic and already diagnosed early in life, even during the perinatal period. There are various causes of congenital vaginal obstruction, and according to their etiology, surgical procedures may be either simple or more complicated. Timing of the surgical procedure for opening the obstruction is a dilemma. We suggest postponing the definite procedure to the menarche, when hematocolpos (accumulation of blood in the vagina) will develop, but before the further development of hematometra (accumulation of blood in the uterine cavity). This will cause stretching of the obstructed segment, will enable correct diagnosis, facilitate the procedure, and eventually minimize the complications. However, if the vaginal obstruction in neonates or in childhood is symptomatic, as in the described case, aspiration of the fluid and temporary release of the symptoms should be the optimal choice, followed by a final surgical correction latter in life.


Subject(s)
Hydrocolpos/diagnostic imaging , Hydronephrosis/diagnostic imaging , Vagina/abnormalities , Female , Humans , Infant, Newborn , Ultrasonography
3.
J Pediatr Adolesc Gynecol ; 19(5): 325-7, 2006 Oct.
Article in English | MEDLINE | ID: mdl-17060014

ABSTRACT

BACKGROUND: Most cases of ovarian edema are thought to result from intermittent ovarian/adnexal torsion. This study describes how, in some cases, this etiology was ruled out even though the edema was unexplained. STUDY OBJECTIVE: To evaluate the association between ovarian edema and hemorrhagic corpus luteum. SETTING: Department of gynecology in an urban medical center. PARTICIPANTS: Five patients admitted to the department of gynecology with a sonographic diagnosis of ovarian edema of unexplained etiology. RESULTS: Laparoscopy performed on three of five patients in whom a diagnosis of unexplained ovarian edema revealed hemorrhagic corpus luteum and ovarian edema. The remaining two patients displayed typical sonographic imaging of hemorrhagic corpus luteum and ovarian edema and they were managed expectantly. The affected ovaries were between 4.8 and 10 times larger than the unaffected ovaries. During follow-up, the affected ovaries returned to their normal size and appearance. CONCLUSIONS: Hemorrhagic corpus luteum can cause ovarian edema without interrupting the blood flow supply. The outcome of expectant management without any surgical intervention is the gradual disappearance of the ovarian edema in these patients and the return of ovaries to a normal sonographic appearance.


Subject(s)
Corpus Luteum , Edema/complications , Hemorrhage/etiology , Ovarian Diseases/complications , Adolescent , Adult , Diagnosis, Differential , Edema/diagnosis , Female , Humans , Laparoscopy , Ovarian Diseases/diagnosis
4.
J Pediatr Adolesc Gynecol ; 19(4): 297-9, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16873035

ABSTRACT

Hydrosalpinx is one of the predisposing factors of adnexal torsion. However, because the incidence of hydrosalpinx in adolescent virgin patients is very rare, it may cause diagnostic dilemma, leading sometimes to suboptimal treatment. We present the case of an 18-yr-old female, not sexually active, presenting with acute lower right abdominal pain. The working diagnosis was of a simple ovarian cyst, so aspiration was performed. Abdominal symptoms reoccurred and sonography revealed a large hemorrhagic cystic mass adjacent to an edematous right ovary. The patient was referred to immediate laparoscopy due to suspected right adnexal torsion. On laparoscopy, the right adnexa was twisted three times causing an edematous ovary with a hematosalpinx. Detorsion was performed. Five weeks later, transabdominal ultrasound reviled normal bilateral ovaries and the hematosalpinx disappeared. In conclusion, hydrosalpinx, although very rare in adolescence, must be considered in the differential diagnosis. Aspiration in such cases is not the treatment of choice and moreover, it may cause complications.


Subject(s)
Adnexal Diseases/diagnosis , Fallopian Tube Diseases/diagnosis , Fallopian Tubes/pathology , Abdominal Pain/diagnosis , Abdominal Pain/etiology , Abdominal Pain/pathology , Adnexal Diseases/pathology , Adnexal Diseases/surgery , Adolescent , Diagnosis, Differential , Edema/diagnosis , Edema/etiology , Edema/pathology , Fallopian Tube Diseases/pathology , Fallopian Tube Diseases/surgery , Fallopian Tubes/diagnostic imaging , Fallopian Tubes/surgery , Female , Humans , Ovarian Cysts/diagnosis , Ovary/diagnostic imaging , Ovary/pathology , Torsion Abnormality , Treatment Outcome , Ultrasonography
7.
J Am Assoc Gynecol Laparosc ; 10(2): 200-4, 2003 May.
Article in English | MEDLINE | ID: mdl-12732772

ABSTRACT

STUDY OBJECTIVE: To assess obstetric performance and fetal outcomes after laparoscopy or laparotomy performed during pregnancy. DESIGN: Nationwide, multicenter, retrospective chart review (Canadian Task Force classification II-2). SETTING: Seventeen hospitals throughout Israel: 12 university or university-affiliated hospitals and 5 general hospitals. PATIENTS: Three hundred eighty-nine pregnant women. INTERVENTION: Laparoscopy or laparotomy for various indications. MEASUREMENTS AND MAIN RESULTS: Of 192 laparoscopies performed, 141 were during the first, 46 during the second, and 5 during the third trimester; respective figures for 197 laparotomies were 63, 110, and 24. No intraoperative complications were reported for either procedure. Six and 25 women had complications after laparoscopy and laparotomy, respectively. There was no significant difference in abortion rates between groups. Mean gestational age at delivery and mean birthweight were comparable between groups. No significant difference was found in frequency of fetal anomalies between groups or when compared with the Israel register of anomalies. CONCLUSION: Operative laparoscopy seems to be as safe as laparotomy in pregnancy.


Subject(s)
Laparoscopy/methods , Laparotomy/methods , Postoperative Complications/epidemiology , Pregnancy Complications/surgery , Pregnancy Outcome , Adult , Female , Gestational Age , Humans , Incidence , Israel , Laparoscopy/adverse effects , Laparotomy/adverse effects , Pregnancy , Probability , Retrospective Studies , Risk Assessment , Sensitivity and Specificity , Treatment Outcome
8.
Cancer ; 92(5): 1151-5, 2001 Sep 01.
Article in English | MEDLINE | ID: mdl-11571728

ABSTRACT

BACKGROUND: Endometrial polyps are the most common endometrial pathology described in association with postmenopausal tamoxifen exposure. Up to 3% of these polyps may show malignant changes. However, to the authors' knowledge no one has described any risk factor for the development of this pathology in postmenopausal patients with breast carcinoma treated with tamoxifen. OBJECTIVE. The objective of this study was to evaluate whether risk factors can be identified for the development of endometrial polyps in postmenopausal patients with breast carcinoma treated with tamoxifen. METHODS: The authors reviewed the medical records of 54 postmenopausal patients with breast carcinoma in whom endometrial polyps were resected by hysteroscopy after at least 6 months of tamoxifen treatment (Group I). Demographic characteristics, health habits, risk factors for endometrial carcinoma, and clinical factors related to the primary breast disease were examined. The results were compared with those obtained from 210 similar patients in whom hysteroscopy did not reveal any endometrial pathology (Group II). RESULTS: Age at menopause was significantly older, duration of breast disease was significantly longer, and body weight was significantly heavier among Group I patients compared with Group II patients (P = 0.0162, P = 0.0026, and P = 0.0364, respectively). Endometrial thickness, measured by transvaginal ultrasonography, was significantly thicker in Group I patients (16.3 +/- 7.2 mm) compared with that detected in Group II patients (11.8 +/- 6.3; P = 0.0001). CONCLUSIONS: Various factors, such as older age at menopause, longer duration of breast disease, heavier weight, and thicker endometrium may contribute to the prediction of increased risk of development of endometrial polyps in postmenopausal patients with breast carcinoma treated with tamoxifen.


Subject(s)
Antineoplastic Agents, Hormonal/therapeutic use , Breast Neoplasms/drug therapy , Endometrial Neoplasms/epidemiology , Neoplasms, Second Primary/epidemiology , Polyps/epidemiology , Tamoxifen/therapeutic use , Endometrial Neoplasms/diagnosis , Female , Humans , Hysteroscopy , Middle Aged , Polyps/diagnosis , Postmenopause , Risk Factors
9.
Int J Gynecol Cancer ; 11(3): 229-33, 2001.
Article in English | MEDLINE | ID: mdl-11437930

ABSTRACT

The aim of this study was to describe the ultrasonographic and Doppler flow attributes of granulosa cell tumors (GCT) of the ovary and to compare these attributes to those of epithelial tumors of the ovary. Among 13,475 gynecological patients who were scanned in our ultrasound unit between 1992 and 1996, seven patients had GCT. The final diagnosis was confirmed, postoperatively, by pathologic examination and by applying the WHO classification. The ultrasonographic findings of the GCT patients were compared to those recorded in a second group of 29 patients who had been diagnosed with epithelial tumor of the ovary. The sonographic appearance of GCT of the ovary was semi-solid and the endometrium was thick in six of the seven patients. Doppler flow studies of vessels within or in the contour of the lesions showed the resistive index (RI) to be 0.448 +/- 0.018. The epithelial tumors had a similar appearance and flow pattern except for the presence of ascites in one-third of the patients. Ultrasound scanning, including color Doppler flow, did not contribute data that could assist in differentiating between GCT and epithelial tumors of the ovary.


Subject(s)
Granulosa Cell Tumor/diagnosis , Ovarian Neoplasms/diagnosis , Ultrasonography, Doppler, Color/standards , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Female , Granulosa Cell Tumor/diagnostic imaging , Humans , Middle Aged , Neoplasms, Glandular and Epithelial/diagnosis , Neoplasms, Glandular and Epithelial/diagnostic imaging , Ovarian Neoplasms/diagnostic imaging , Predictive Value of Tests , Prospective Studies
10.
Clin Cancer Res ; 7(2): 415-20, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11234898

ABSTRACT

Clinical data indicate that tamoxifen (TAM) therapy may cause an increased risk of endometrial pathology in postmenopausal but not in premenopausal women. Molecular mechanisms of the uterotrophic activity of TAM have not been clearly established nor its relevance to apoptosis in endometrial cells. The present study was implemented to evaluate the apoptotic effect of TAM on primary endometrial cell cultures in the presence or absence of steroid hormones (SHs). A total of 14 primary endometrial cell cultures were established and maintained both with and without SHs. Cell cultures were treated for 24 h with either 20 microM TAM or 10 nM estradiol. Apoptotic cells presented in a pre-G1 peak and the expression of bcl-2 were studied using flow cytometry. All endometrial cell cultures maintained in a SH-containing environment, except one, responded to TAM by a significant increase (P = 0.03) in the pre-G1 cell fraction, indicating a proapoptotic effect. A significant (P = 0.03) reduction in the pre-G1 peak equivalent to an antiapoptotic response was observed in 6 of 13 cell cultures maintained in a SH-deficient environment. In 4 of 10 cell cultures evaluated in both media, the pre-G1 population was medium dependent. In 8 of 10 cultures evaluated for Bcl2 levels, no trend was found in either media, but a dependency on SH content was observed. Comparison between effects of TAM and estradiol demonstrated identical trends, regardless of the menstrual phase or SH content in cell environments. These results suggest that TAM acts as an estrogen agonist on endometrial tissue in both environments. We conclude that TAM modulates apoptotic pathways in primary endometrial cell cultures. The SH content in the cell environment influences the apoptotic effect of TAM and determines the propensity for a cell to undergo apoptosis or, on the contrary, to resist apoptotic death in response to TAM treatment. This is in concordance with the observed clinical risk of endometrial pathologies in postmenopausal versus premenopausal women.


Subject(s)
Antineoplastic Agents, Hormonal/pharmacology , Apoptosis/drug effects , Endometrium/drug effects , Tamoxifen/pharmacology , Adult , Cell Line , Endometrial Neoplasms/drug therapy , Endometrial Neoplasms/metabolism , Endometrium/cytology , Endometrium/metabolism , Estradiol/pharmacology , Female , Humans , Middle Aged , Proto-Oncogene Proteins c-bcl-2/metabolism , Receptors, Estrogen/metabolism , Signal Transduction , Tumor Cells, Cultured
11.
Acta Obstet Gynecol Scand ; 79(12): 1083-5, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11130092

ABSTRACT

BACKGROUND: External cephalic version is attempted prior to the onset of labor. Women who present in labor with footling breech presentation are usually delivered by cesarean section. We present our experience of external version in women in labor. MATERIAL AND METHODS: External cephalic version was attempted in thirteen patients in labor with footling breech presentation with the breech out of the pelvis. RESULTS: The procedure was successful in twelve of the thirteen patients. Ten of them delivered vaginally. There were no maternal or neonatal complications. CONCLUSIONS: It may be reasonable to attempt external cephalic version in patients in labor prior to performing a cesarean section.


Subject(s)
Breech Presentation , Version, Fetal , Adult , Delivery, Obstetric , Female , Humans , Pregnancy , Pregnancy Outcome , Retrospective Studies
13.
Ultrasound Obstet Gynecol ; 16(1): 60-2, 2000 Jul.
Article in English | MEDLINE | ID: mdl-11084967

ABSTRACT

OBJECTIVE: To determine the effects of the changes in fetal renal pelvis dilatation on post-natal diagnosis and outcome. METHODS: Prenatal sonographic fetal renal anteroposterior diameters of > or = 4 mm in the second trimester, which persisted to > or = 7 mm in the third trimester, were the inclusion criteria. Fifty-six fetuses and 73 renal units with normal karotypes and a solitary sonographic finding of renal pyelectasis, which met the inclusion criteria, were followed, post-natally, until the age of 30 months. The neonates were categorized into three groups, according to their final diagnosis: No hydronephrosis, pelvi-ureteric junction obstruction and hydronephrosis from other causes. The neonates were also categorized according to their outcome: no treatment, follow-up only and surgical treatment. RESULTS: In 17 neonates (30.4%), and 19 renal units, the diagnosis of hydronephrosis was excluded post-natally. In 39 neonates (69.6%), and 54 renal units, an urinary tract pathology was confirmed. The dynamics of pyelectasis in the second and third trimesters of pregnancy differed significantly among the neonates when categorized according to the final diagnosis (P < 0.05), or according to outcome (P < 0.05). CONCLUSION: It is possible to predict, and distinguish between, long-term conservative and surgical treatments of renal pelvis dilatation in the third trimester of pregnancy.


Subject(s)
Fetal Diseases/diagnostic imaging , Hydronephrosis/diagnostic imaging , Kidney Pelvis/diagnostic imaging , Kidney Pelvis/embryology , Ultrasonography, Prenatal , Dilatation, Pathologic , Female , Humans , Pregnancy , Pregnancy Trimester, Second , Pregnancy Trimester, Third
14.
Eur J Gynaecol Oncol ; 21(4): 418-22, 2000.
Article in English | MEDLINE | ID: mdl-11055500

ABSTRACT

PURPOSE OF INVESTIGATION: 1) To assess whether endometrial specimens obtained from removed uteri might show an increase in endometrial pathologies which had been previously diagnosed by hysteroscopy in postmenopausal breast cancer tamoxifen-treated patients. 2) To assess whether hysteroscopy is an efficient method of detecting endometrial pathologies in such patients. METHODS: The findings of two consecutive pathological evaluations in 18 postmenopausal breast cancer tamoxifen-treated patients, performed 11.2+/-11.2 months apart, were compared. The first specimen was collected by hysteroscopy and the second was obtained following hysterectomy. RESULTS: The most significant changes observed were three new cancers diagnosed at hysterectomy, one of which was poorly-differentiated. In the first (hysteroscopy) samplings, one patient had atrophic endometrium, a second patient had endometrial proliferation and a third patient had a benign endometrial polyp. Overall, 55.6% of the study patients had various endometrial pathologies in the first sampling, while 83.3% had endometrial pathologies in the second sampling. However, this difference was not statistically significant. CONCLUSION: 1) Endometrial histologic evaluations, performed on removed uteri 11.2+/-11.2 months following previous endometrial samplings of postmenopausal breast cancer tamoxifen-treated patients, showed a non-significant risk of developing overall endometrial pathologies. 2) Hysteroscopy may have missed some endometrial pathologies which were diagnosed later on in specimens obtained by hysterectomy.


Subject(s)
Breast Neoplasms/prevention & control , Endometrial Neoplasms/pathology , Endometrium/pathology , Estrogen Antagonists/adverse effects , Hysteroscopy/standards , Tamoxifen/adverse effects , Aged , Atrophy , Carcinoma/chemically induced , Carcinoma/pathology , Endometrial Hyperplasia/chemically induced , Endometrial Hyperplasia/pathology , Endometrial Neoplasms/chemically induced , Endometrial Neoplasms/surgery , Endometrium/drug effects , Female , Humans , Hysterectomy , Polyps/chemically induced , Polyps/pathology , Postmenopause , Predictive Value of Tests
15.
BJOG ; 107(9): 1083-7, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11002949

ABSTRACT

OBJECTIVE: To assess whether there is a decrease in endometrial thickness following discontinuation of tamoxifen treatment as measured by ultrasound. DESIGN: Prospective study. SETTING: Department of Obstetrics and Gynaecology, Sapir Medical Centre, Kfar-Saba, Israel. POPULATION: Fifty-eight postmenopausal women with breast cancer who were treated with tamoxifen. METHODS: Transvaginal ultrasonographic measurements of endometrial thickness. MAIN OUTCOME MEASURES: Evaluation of the changes of endometrial thickness and the frequency the endometrium reached a thickness of < or = 5 mm at different time intervals after stopping tamoxifen treatment. RESULTS: There was a significant decrease in median thickness of the endometrium, within six months after stopping tamoxifen, from 7.75 mm measured at the last ultrasonographic study performed before tamoxifen discontinuation down to 5.2 mm (P = 0.002). There were no further reductions in endometrial thickness, and it remained constantly low in subsequent ultrasonographic studies which were performed at various times up to 30 months following the discontinuation of tamoxifen treatment. While taking tamoxifen, only 25-9% of the women had an endometrial thickness of < or = 5 mm. This proportion doubled in their first six months after stopping. CONCLUSIONS: Median thickness of endometrial thickness significantly reduced within six months following tamoxifen discontinuation, and remained constantly low thereafter. This finding may support use of ultrasonographic imaging for the measurement of tamoxifen's effect on the endometrium of postmenopausal breast cancer patients.


Subject(s)
Antineoplastic Agents, Hormonal/adverse effects , Breast Neoplasms/drug therapy , Endometrium/diagnostic imaging , Tamoxifen/adverse effects , Uterine Diseases/diagnostic imaging , Endometrium/drug effects , Female , Humans , Middle Aged , Postmenopause , Prospective Studies , Substance Withdrawal Syndrome/complications , Ultrasonography
17.
Harefuah ; 138(3): 208-10, 270, 2000 Feb 01.
Article in Hebrew | MEDLINE | ID: mdl-10883094

ABSTRACT

Coma in pregnancy and labor is a rare and complicated situation. One of the causes is severe head trauma, which requires neurosurgical consultation and possibly urgent transfer to a neurosurgical unit. This should follow stabilization, confirmation of fetal viability, and cesarean section when indicated. A 38-year-old primigravida at term and in labor, with severe head injury from a vehicular accident is reported. Emergency cesarean section was performed for severe fetal distress during resuscitation. Fetal distress in a comatose parturient with severe head injury may require a short delay in referral to a tertiary trauma center to allow for an emergency cesarean section.


Subject(s)
Cesarean Section , Coma , Craniocerebral Trauma , Adult , Emergencies , Female , Fetal Distress , Humans , Pregnancy , Resuscitation
19.
Eur J Gynaecol Oncol ; 21(2): 128-30, 2000.
Article in English | MEDLINE | ID: mdl-10843469

ABSTRACT

OBJECTIVE: To evaluate the diagnostic accuracy of preoperative transvaginal sonography (TVS) in the detection of deep myometrial invasion in endometrial cancer cases classified by the grade of disease, and in comparison to frozen section analysis in grade 1 cases. METHODS: In a prospective study, 91 patients with confirmed endometrial carcinoma underwent preoperative TVS for evaluation of myoinvasion. Sonographic results were categorized as superficial (less than or equal to 1/2 myometrial depth) and deep invasion (greater than 1/2 myometrial depth). TAH-BSO followed by retroperitoneal lymph node sampling were performed in all patients with grade 2-3 tumors. In patients with grade 1 disease, the surgical specimen was intraoperatively evaluated by frozen section, and lymph node sampling was carried out if deep invasion was determined. The preoperative sonographic findings and the frozen section results were compared to the final histopathology report of myoinvasion. RESULTS: In 77 of the 91 (84.6%) patients, the sonographic assessment of the depth of myoinvasion was in accord with the final histopathologic findings. TVS demonstrated a sensitivity of 87.8% and a specificity of 82.7% in detecting deep invasion in the entire study group (grade 1-3), with positive and negative predictive values (PPV, NPV) of 74.3% and 92.3%, respectively. TVS in grade 1 cases (n=47) showed a sensitivity of 77.7%, a specificity of 79%, PPV of 46.6% and NPV of 93.7%. TVS in cases with grade 2-3 tumors (n=44) showed a sensitivity of 90%, specificity of 91.6%, PPV of 90% and NPV of 91.6%. Thus, the accuracy of TVS in grade 2-3 cases was superior to that achieved in grade 1 cases (91% vs 78.7%; p=.002). The myometrial invasion was assessed by frozen section in 41 out of 47 patients with grade 1 disease and demonstrated a sensitivity of 85.7%, a specificity of 100%, PPV of 100% and NPV of 97.1%. The specificity (100%) and accuracy (97.5%) of the frozen section were found to be superior compared to that of the TVS (79% and 78.7%) in detecting deep invasion in grade 1 cases (p=.008, p=.005, respectively). No statistically significant difference was found between the sensitivity of either technique. CONCLUSIONS: TVS appeared to be a more accurate method for preoperative assessment of myoinvasion in grade 2-3 endometrial cancer patients compared to grade 1 patients. In grade 1 cases, this method achieved lower accuracy in detecting deep invasion compared to the frozen section analysis. Based on these data, the value of preoperative TVS results as the sole criterion in the decision to perform extensive surgical procedures in grade 1 endometrial cancer is questionable and warrants further evaluation.


Subject(s)
Endometrial Neoplasms/diagnostic imaging , Endometrial Neoplasms/pathology , Endosonography/methods , Myometrium/diagnostic imaging , Myometrium/pathology , Adult , Aged , Chi-Square Distribution , Endometrial Neoplasms/surgery , Female , Frozen Sections , Humans , Hysterectomy , Immunohistochemistry , Middle Aged , Myometrium/surgery , Neoplasm Invasiveness/diagnostic imaging , Preoperative Care , Prospective Studies , Sensitivity and Specificity , Vagina/diagnostic imaging
20.
Cancer ; 88(4): 755-60, 2000 Feb 15.
Article in English | MEDLINE | ID: mdl-10679643

ABSTRACT

BACKGROUND: A new mutation, I1307K, recently was reported in the adenomatous polyposis coli (APC) gene. This mutation was found to be predominant in Ashkenazi Jews, creating a hypermutable area and predisposing the development of carcinoma. The objective of the current study was to estimate the prevalence of this mutation in several of the ethnic groups that comprise the Israeli population and to elucidate the clinical features of the mutation carriers with colorectal carcinoma (CRC). METHODS: A total of 111 consecutive CRC patients were evaluated and their medical history and clinical data recorded. The general population (298 Ashkenazim and 189 Yemenites) also was tested for the presence of this mutation. Mutation screening was performed using both the polymerase chain reaction-based amplification refractory mutation system and a commercial APC kit. RESULTS: Of the total of 111 CRC patients, 15 (13.5%) carried the I1307K mutation and 26 of 487 subjects from the general population (5.3%) carried the I1307K mutation (P = 0.004). Among the 71 Ashkenazi CRC patients there were 12 carriers (16.9%) whereas 17 of the 298 Ashkenazi Jewish general population (5.7%) carried the mutation (P = 0.004). Of the 4 CRC patients of Yemenite origin, 3 carried the mutation and 9 carriers were found among 189 subjects in the general Yemenite population (4.7%) (P = 0.0007). None of the 34 Sepharadic or 2 Arab CRC patients carried the APC I1307K allele. Late age at diagnosis (64.6 years +/- 10.0, which is similar to that of the noncarriers), mostly right-sided tumors, and moderate to good differentiation constituted the phenotype of the mutation carriers. CONCLUSIONS: The authors believe the findings of the current study broaden the known spectrum of ethnic groups in which the APC I1307K mutation is prevalent. The phenotype of the mutation carrier CRC patients does not conform to the expected familial pattern of germline mutations. The phenotype and the differential incidence rate of CRC among APC I1307K carriers of various ethnic groups suggest low penetrance.


Subject(s)
Adenomatous Polyposis Coli/genetics , Genes, APC/genetics , Jews/genetics , Mutation , Adenomatous Polyposis Coli/ethnology , Aged , Alleles , Colorectal Neoplasms/ethnology , Colorectal Neoplasms/genetics , Female , Gene Frequency , Heterozygote , Humans , Male , Middle Aged , Phenotype , Polymerase Chain Reaction
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