Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

BackgroundFamilial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.MethodsWe included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. ResultsAmong 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.ConclusionIn this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.     

Neurophysiologic basis of Back-Shu and Huatuo-Jiaji points

Acupuncture, a method of traditional Chinese medicine that uses Back-Shu and Huatuo-Jiaji points, is especially effective for treating diseases of the visceral organs. Applying acupuncture on Back-Shu points affects visceral organs in many ways. For example, it dilates the bronchus, affects the heartbeat, stomach motility, urinary bladder contractions and so on. Acupuncture's effects can be explained as viscero-cutaneous, cutaneo-visceral, cutaneo-muscular, and viscero-muscular reflexes. Segmental dispersion of the sympathetic and parasympathetic systems is related to the location of Back-Shu points. Changes in visceral organs caused by application of acupuncture can be explained as modulation of the sympathetic and parasympathetic systems.     

Cumulative exposure to high estradiol levels during the follicular phase of IVF cycles negatively affects implantation

Purpose: To investigate the effect of the cumulative exposure to estradiol (E₂) during the follicular phase on IVF outcome. Methods: Patients were stimulated with recombinant FSH after GnRH agonist suppression and had a day 3-embryo transfer. Estrogen exposure was determined as the area under the curve (AUC) for serum E₂ levels measured from the first day of stimulation through the day after hCG administration. Results: E₂ AUC thresholds for 10th and 90th percentiles were 4704 pg/ml and 16338 pg/ml, respectively. The pregnancy and implantation rates were highest in the 10th–90th percentile group, and were statistically higher in this group than in the >90th percentile group (54.6% vs. 33.3% and 24.8% and 12.9%, respectively, for pregnancy and implantation rates, P < 0.05). Recovered mature oocytes, fertilization, and number and mean score of transferred embryos were similar. Conclusions: High cumulative E₂ exposure during the follicular phase of IVF cycles has detrimental effects on implantation.     

Determination of the mineral content of bee honeys produced in Middle Anatolia

The mineral content of 43 honey samples from the middle regions of Turkey was investigated. Minerals were determined by inductively coupled plasma-atomic emission spectrophotometer. Calcium, potassium, sodium and phosphorus were the most abundant of the elements in all the studied honeys, with average concentrations ranging between 40.13 and 189.69 mg/kg for calcium, 161.01 and 598.62 mg/kg for potassium, 9.34 and 45.9 mg/kg for sodium, and 460.11 and 3,776.96 mg/kg for phosphorus. Cluster analysis of the honey data revealed that the mineral content of Çorum and Konya honeys was closer as they formed a cluster at a similarity level of 60%.     

Intrathecal catheterization after unintentional dural puncture during orthopedic surgery

Purpose

We investigated whether inserting an intrathecal catheter and leaving it in place for 24 h after an unintentional dural puncture in orthopedic patients reduced the incidence of post-dural puncture headache (PDPH).

Methods

The study consisted of 427 patients in whom a total of 21 unintentional dural punctures had occurred during orthopedic surgery performed between 2002 and 2006. Seven patients (phase I; evaluated retrospectively) each underwent placement of an epidural catheter at another level after dural puncture during the period January 2002 to February 2004. Fourteen patients (phase II; evaluated prospectively) received an epidural catheter through the dural tear after an unintentional dural puncture during the period February 2004–March 2006

Results

In phase I, 5 of the 7 patients experienced PDPH, and one required an epidural blood patch. In phase II, only one of the 14 patients complained of PDPH, which resolved after 48 h of medical therapy. No patient experienced paresthesia, neurologic or hemorrhagic complication, or infection.

Conclusion

Inserting an epidural catheter through the dural tear following an unintentional dural puncture and leaving it in place for 24 h significantly reduces the incidence of PDPH.     

Multifocal bone tuberculosis presenting as a breast mass: CT and MRI findings

Chest wall involvement is an uncommon manifestation of musculoskeletal tuberculosis. We present computed tomography and magnetic resonance imaging findings in a case with multifocal musculoskeletal tuberculosis presenting as a breast mass. These radiological modalities are not diagnostic without histopathological confirmation, but they are valuable guides to surgery in defining the extent of disease involvement. Received: 1 July 1998; Revision received: 8 October 1998; Accepted: 12 October 1998     

The role of power Doppler sonography in the prenatal evaluation of fetal renal vasculature.

This study was performed to determine whether power Doppler sonography is superior to color Doppler sonography in the depiction of the normal fetal intrarenal vasculature during pregnancy. Twenty-five fetal kidneys in 22 healthy fetuses between 22 and 40 weeks of gestation (mean 32.6 weeks) were studied with color and power Doppler sonography with a 3.75 MHz transducer. The efficacy of power and color Doppler sonography were compared in assessing fetal renal vasculature. Power Doppler sonography demonstrated diffuse "blush" in almost the entire cortex in 21 of 25 fetal kidneys, whereas it was demonstrated in half of the cortex in the other four kidneys. Color Doppler sonography failed to demonstrate a cortical blush in fetal kidneys. Power Doppler sonography has been shown to be superior to color Doppler sonography in the depiction of normal fetal intrarenal vasculature during pregnancy by demonstrating vascular blood flow better than color Doppler sonography.     

MR imaging of renal vein occlusion in dogs.

RATIONALE AND OBJECTIVES: MR findings of renal vein thrombosis are not consistent in the literature. Our goal was to evaluate MR findings of kidneys after renal vein occlusion in dogs. METHODS: Surgical ligation of renal veins was performed in seven dogs. Of these, five dogs were examined with MRI before surgery, on the day of the renal vein ligation, and on the 1st, 4th, 8th, 15th, and 30th days. The other two dogs underwent nephrectomy on the 4th and 8th days for histopathologic correlation. RESULTS: On T1-weighted images, corticomedullary differentiation was lost in all dogs by the 15th day. On T2-weighted images, the signal intensity of the renal cortex was significantly decreased beginning on the first day. The kidneys showed no medullary enhancement in the postcontrast period. The volume of the kidney began increasing at the time of renal vein ligation, started to decrease after the 4th day, and developed significant atrophy by the 30th day. CONCLUSIONS: After renal vein ligation, the renal cortex appears hypointense on T2-weighted images, corticomedullary differentiation is lost within 2 weeks on T1-weighted images, and the kidney becomes atrophic by 1 month.     

Contemporary outcomes after superficial femoral artery angioplasty and stenting: the influence of TASC classification and runoff score

OBJECTIVE: A recent randomized trial suggested nitinol self-expanding stents (SES) were associated with reduced restenosis rates compared with simple percutaneous transluminal angioplasty (PTA). We evaluated our results with superficial femoral artery (SFA) SES to determine whether TransAtlantic InterSociety Consensus (TASC) classification, indication for intervention, patient risk factors, or Society of Vascular Surgery (SVS) runoff score correlated with patency and clinical outcome, and to evaluate if bare nitinol stents or expanded polytetrafluoroethylene (ePTFE) covered stent placement adversely impacts the tibial artery runoff. METHODS: A total of 109 consecutive SFA stenting procedures (95 patients) at two university-affiliated hospitals from 2003 to 2006 were identified. Medical records, angiographic, and noninvasive studies were reviewed in detail. Patient demographics and risk factors were recorded. Procedural angiograms were classified according to TASC Criteria (I-2000 and II-2007 versions) and SVS runoff scores were determined in every patient; primary, primary-assisted, secondary patency, and limb salvage rates were calculated. Cox proportional hazard model was used to determine if indication, TASC classification, runoff score, and comorbidities affected outcome. RESULTS: Seventy-one patients (65%) underwent SES for claudication and 38 patients (35%) for critical limb ischemia (CLI). Average treatment length was 15.7 cm, average runoff score was 4.6. Overall 36-month primary, primary-assisted, and secondary rates were 52%, 64%, and 59%, respectively. Limb salvage was 75% in CLI patients. No limbs were lost following interventions in claudicants (mean follow-up 16 months). In 24 patients with stent occlusion, 15 underwent endovascular revision, only five (33%) ultimately remained patent (15.8 months after reintervention). In contrast, all nine reinterventions for in-stent stenosis remained patent (17.8 months). Of 24 patients who underwent 37 endovascular revisions for either occlusion or stenosis, eight (35%) had worsening of their runoff score (4.1 to 6.4). By Cox proportional hazards analysis, hypertension (hazard ratio [HR] 0.35), TASC D lesions (HR 5.5), and runoff score > 5 (HR 2.6) significantly affected primary patency. CONCLUSIONS: Self-expanding stents produce acceptable outcomes for treatment of SFA disease. Poorer patency rates are associated with TASC D lesions and poor initial runoff score; HTN was associated with improved patency rates. Stent occlusion and in-stent stenosis were not entirely benign; one-third of patients had deterioration of their tibial artery runoff. Future studies of SFA interventions need to stratify TASC classification and runoff score. Further evaluation of the long-term effects of SFA stenting on tibial runoff is needed.     

Liver transplantation for biliary atresia

Biliary atresia is the most common indication for liver transplantation (OLT) in children. We present our experience with OLT as a treatment for end-stage liver disease in children with biliary atresia. We performed a retrospective review of 20 biliary atresia patients (11 male, 9 female patients; mean age, 21.4 months; range, 6 to 84 months) who had undergone OLT. Mean preoperative weight and height were 10.1 +/- 5.8 kg and 72.5 cm, respectively. Thirteen recipients were younger than 1 year of age, and 15 weighed less than 10 kg at the time of OLT. Fourteen recipients had undergone a Kasai operation prior to the OLT. The mean serum total bilirubin level was 22.56 mg/dL before OLT. Eighteen left lateral segment grafts and two whole grafts were transplanted. The mean recipient operative time was 9.25 hours. The mean recipient intraoperative blood loss was 1.81 U. Two hepatic arterial thromboses and one biliary leak occurred soon after surgery. Portal vein stenoses developed in two recipients at 10 and 12 months after OLT; both were treated with balloon dilatation. Two biliary stenoses, which occurred at 10 months and 3.5 years after surgery, were treated with balloon dilatation. Two recipients died at 2 and 12 days after OLT because of respiratory distress syndrome and sepsis, respectively. The remaining 18 (90%) recipients are alive with good graft function. The overall rejection rate was 31.25%. OLT is an effective treatment for children with biliary atresia and a failed Kasai procedure. Living related liver grafts represented an excellent organ supply for these patients.