bluuebunny/crossref_metadata_2025 huggingface dataset:
Involvement of Regulatory T Cells in the Pathogenesis of Churg-Strauss Syndrome
Authors: Saito Hiroshi , Tsurikisawa Naomi , Tsuburai Takahiro , Akiyama Kazuo
Published: May 2008

Background: Churg-Strauss syndrome (CSS) is a rare systemic necrotizing vasculitis that develops in some asthma patients. However, it remains unknown what types of asthma patients can develop this condition. In addition, CSS patients experience eosinophilic pneumonia (EP) before the onset, but some asthma patients do not develop CSS following EP. Few studies have addressed the immunological differences in both cases. Additionally, it is well known that abnormality or failure of immunological tolerance by regulatory T cells (Treg) directly triggers the onset of autoimmune diseases. To elucidate the involvement of Treg in the difference in the pathogenesis of patients with and without CSS, the frequency of naturally occurring Treg (nTreg) and Treg which dominantly produce IL-10 and TGF-β (Tr1) was measured in peripheral blood. Methods: Mononuclear leukocytes were obtained from patients with asthma, asthma accompanying EP and CSS. The cells were stimulated with PMA and ionomycin in the presence of brefeldin A to generate and accumulate cytokines. Cytokines in the cells were detected after fixation and permeabilization of these cells. Tr1 cells were evaluated as CD4+CD25+ T cells dominantly producing IL-10 and TGF-β, and nTreg were also evaluated as CD4+CD25+ T cells expressing FOXP3, a master transcriptional factor. Results: There was a significantly greater number of nTreg in the peripheral blood of EP patients in comparison to both patients with asthma and whole CSS. However, no significant difference was observed regarding the number of nTreg when patients with CSS were divided into inactive and active stage. In contrast, the detection frequency of Tr1 remarkably decreased in active CSS, especially at the time of onset of CSS, in comparison with asthma, EP and inactive CSS, while there was no difference between EP and inactive CSS. Additionally, the ability of CD4+CD25– T cells (responder T cells) to generate IL-2 when stimulated with PMA and ionomycin sharply decreased in active CSS. Conclusion: In the patient who does not develop CSS even after repeat EP, the frequency of Tr1 and the ability of responder T cells to generate IL-2 do not decrease, but show a remarkable decrease in the EP patient who develops CSS. These findings strongly suggest that Tr1 is responsible for maintaining immunological tolerance in peripheral blood, while also inhibiting the onset of CSS from EP.
Chronic Rhinosinusitis: Risk Factors for the Recurrence of Chronic Rhinosinusitis Based on 5-Year Follow-Up after Endoscopic Sinus Surgery
Authors: Matsuwaki Yoshinori , Ookushi Tetsushi , Asaka Daiya , Mori Eri , Nakajima Tsuneya , Yoshida Takuto , Kojima Junya , Chiba Shintaro , Ootori Nobuyoshi , Moriyama Hiroshi
Published: May 2008

Background: Chronic rhinosinusitis (CRS) is one of the most frequent chronic diseases in the US, and little is understood about its pathogenesis. This study was conducted to characterize, retrospectively, the clinical, objective and immunological parameters that accompany recurrence of CRS during long-term follow-up after surgery. Methods: Fifty-six patients with CRS who had undergone endoscopic sinus surgery were followed up for 5 years after the surgery. The CRS parameters chosen were as follows: history of asthma and/or allergic rhinitis, peripheral eosinophilia of at least 520 cells/µl, peripheral eosinophil count, total IgE, presence of polyps, CT score, presence of fungi (positive fungal culture or stain), mucus or mucosal eosinophilia, mucosal eosinophil count, presence of acute infection after surgery, gender and age. Individual correlations and stepwise regression were performed. Results: Patients with a total peripheral eosinophil count of 520/µl or more and those with asthma were likely to experience recurrence of CRS within 5 years after surgery. Furthermore, patients with mucus or mucosal eosinophilia who were diagnosed as having eosinophilic CRS (ECRS) showed a high incidence of recurrence within 5 years. The parameter of mucus or mucosal eosinophilia (diagnosis of ECRS) had a positive predictive value of 85.7%. Conclusions: Surgeons should always examine the inflammatory infiltrate of nasal polyps or the paranasal mucosa, and patients with ECRS require anti-inflammatory medications, such as steroids, for a long time after surgery. Long-term follow-up is also essential.
Obstructive Jaundice in Polycystic Liver Disease Related to Coexisting Cholangiocarcinoma
Authors: Delis Spiros G. , Bakoyiannis Andreas , Triantopoulou Charikleia , Paraskeva Kostantina , Athanassiou Kostas , Dervenis Christos
Published: May 2008

Although jaundice rarely complicates polycystic liver disease (PLD), secondary benign or malignant causes cannot be excluded. In a 72-year-old female who presented with increased abdominal girth, dyspnea, weight loss and jaundice, ultrasound and computed tomography confirmed the diagnosis of PLD by demonstrating large liver cysts causing extrahepatic bile duct compression. Percutaneous cyst aspiration failed to relief jaundice due to distal bile duct cholangiocarcinoma, suspected by magnetic resonance cholangiopancreatography (MRCP) and confirmed by endoscopic retrograde cholangiopancreatography (ERCP). Coexistence of PLD with distal common bile duct cholangiocarcinoma has not been reported so far.
Three-Port Laparoscopic Cholecystectomy in a Brazilian Amazon Woman with Situs Inversus Totalis: Surgical Approach
Authors: Fernandes Mauro Neiva , Neiva Ivan Nazareno Campos , de Assis Camacho Francisco , Crociati Meguins Lucas , Fernandes Marcelo Neiva , Crociati Meguins Emília Maíra
Published: May 2008

Situs inversus totalis (SIT) is an uncommon anomaly characterized by transposition of organs to the opposite side of the body in a mirror image of normal. We report on an adult woman, born and resident in Brazilian Amazonia, presenting acute pain located at the left hypochondrium and epigastrium. During clinical and radiological evaluation, the patient was found to have SIT and multiple stones cholelithiasis. Laparoscopic cholecystectomy was safely performed with the three-port technique in a reverse fashion. In conclusion, this case confirms that three-port laparoscopic cholecystectomy is a safe and feasible surgical approach to treat cholelithiasis even in rare and challenging conditions like SIT.
In-One-Continuity Rectal Excision and Anal Mucosectomy of a Giant Villous Adenoma: An Alternative Surgical Approach
Authors: Koning G.G. , Rensma P.L. , van Milligen de Wit A.W.M. , van Laarhoven C.J.H.M.
Published: May 2008

Background: The authors present a woman suffering from McKittrick-Wheelock syndrome (MKWS) with a giant rectal villous adenoma. MKWS is a rare disorder caused by fluid and electrolyte hypersecretion from a rectal tumor. The most frequently reported tumors are villous adenomas. Symptoms of dehydration with severe hyponatremia, hypokalemia, metabolic acidosis and acute renal failure are typical in MKWS. Several options for operation have been reported, such as a transsacral approach (according to Kraske), transanal endoscopic microsurgery (TEM) or total mesorectal excision (TME). In this case we report an alternative surgical approach: in-one-continuity transanal mucosectomy and transabdominal TME with a handsewn colonic-anal anastomosis. Case: A 54-year-old woman had a history of hospital admissions because of repeated bouts of dehydration with electrolyte disorders since 2004. At admission she presented with prerenal azotemia, hyponatremia and severe hypokalemia in combination with watery stools. At colonoscopy an 8-cm villous adenoma was seen in the rectum. Dehydration and electrolyte disturbances were treated by appropriate intravenous fluid administration. An in-one-continuity anal mucosectomy and complete rectal excision were performed and restored by a handmade colonic-anal anastomosis. Postoperative recovery was uneventful. Conclusion: MKWS can be a difficult problem to assess in both gastroenterological and nephrological ways. Patients may develop severe complications which require surgical intervention in some cases. In-one-continuity transanal mucosectomy and rectum excision with a handmade colonic-anal anastomosis seemed to be a new and solid surgical therapeutic option in this case.
Recurrent Ascending Colon Cancer Manifesting as Inferior Vena cava Thrombus
Authors: Tori Masayuki , Akamatsu Hiroki , Ueshima Shigeyuki , Tsujimoto Masahiko , Nakahara Masaaki
Published: May 2008

We report an extremely rare case of recurrent ascending colon cancer manifesting as inferior vena cava (IVC) thrombus. A 77-year-old woman previously diagnosed with ascending colon cancer underwent right hemicolectomy with lymph node dissection. Though the tumor invaded the retroperitoneum and involved the right ovarian artery and vein, curative operation was performed. The patient took 5-FU p.o. Two and a half years later, tumor thrombus in the IVC extending into the right atrium was incidentally found and diagnosed as recurrence of colon cancer by biopsy. RF-induced hyperthermia using 5-FU and CDDP i.v. was immediately performed, but she died after 6 months because of multiple liver and pulmonary metastases. In treating colon cancers invading the retroperitoneum, it should be recalled that some cases recur as tumor thrombus in the IVC and that close follow-up is therefore necessary.
Major Diagnostic and Pathological Features of Iniencephaly Based on Twenty-Four Cases
Authors: Joó József Gábor , Beke Artúr , Papp Csaba , Szigeti Zsanett , Csaba Ákos , Papp Zoltán
Published: May 2008

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients’ history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum α-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography.
Fetal Bladder Wall Regeneration with a Collagen Biomatrix and Histological Evaluation of Bladder Exstrophy in a Fetal Sheep Model
Authors: Roelofs Luc A.J. , Eggink Alex J. , Hulsbergen-van de Kaa Christina A. , Wijnen Rene M.H. , van Kuppevelt Toin H. , van Moerkerk Herman T.B. , Crevels A. Jane , Hanssen Alex , Lotgering Fred K. , van den Berg Paul P. , Feitz Wout F.J.
Published: May 2008

Objectives: To evaluate histological changes in an animal model for bladder exstrophy and fetal repair of the bladder defect with a molecular-defined dual-layer collagen biomatrix to induce fetal bladder wall regeneration. Methods: In 12 fetal lambs the abdominal wall and bladder were opened by a midline incision at 79 days’ gestation. In 6 of these lambs an uncorrected bladder exstrophy was created by suturing the edges of the opened bladder to the abdominal wall (group 1). The other 6 lambs served as a repair group, where a dual-layer collagen biomatrix was sutured into the bladder wall and the abdominal wall was closed (group 2). A caesarean section was performed at 140 days’ gestation, followed by macroscopic and histological examination. Results: Group 1 showed inflammatory and maturational changes in the mucosa, submucosa and detrusor muscle of all the bladders. In group 2, bladder regeneration was observed, with urothelial coverage, ingrowth of fibroblasts and smooth muscle cells, deposition of collagen, neovascularization and nerve fibre formation. This tissue replaced the collagen biomatrix. No structural changes of the bladder were seen in group 2. Conclusions: The animal model, as in group 1, for bladder exstrophy shows remarkable histological resemblance with the naturally occurring anomaly in humans. This model can be used to develop new methods to salvage or regenerate bladder tissue in bladder exstrophy patients. Fetal bladder wall regeneration with a collagen biomatrix is feasible in this model, resulting in renewed formation of urothelium, blood vessels, nerve fibres, ingrowth of smooth muscle cells and salvage of the native bladder.
Cell-Free Fetal DNA in Maternal Plasma during Physiological Single Male Pregnancies: Methodology Issues and Kinetics
Authors: Horinek Ales , Korabecna Marie , Panczak Ales , Gallova Zdenka Ulcova , Nouzova Kamila , Calda Pavel , Hancarova Miroslava
Published: May 2008

Objective: To analyze methodological influences and characterize the concentrations of cell-free fetal DNA (cffDNA) circulating in maternal plasma at different gestational ages in physiological pregnancies. Methods: We investigated 238 independent samples from single male-bearing pregnancies of different gestation age. In the other 50 pregnancies, the samples were collected three times during pregnancy (at all trimesters) to evaluate the kinetics of cffDNA. The manual and automated DNA extraction methods (Roche) were compared. cffDNA was amplified using real-time PCR method and Y-specific sequences SRY and DYS14. Total cell-free DNA circulating in maternal plasma was determined by the use of the GADPH sequence. Results: The elevation in the concentration of cffDNA during pregnancy with the highest value in the third trimester was observed independently on the DNA extraction method and on the Y-specific amplified sequence. The same is documented for the percentage of fetal DNA in total cell-free DNA in maternal plasma. It increases also in successive trimesters (8.3, 10.7 and 23.2%). Conclusions: We discuss methodological problems and describe statistical parameters of cffDNA concentrations in maternal plasma during pregnancy as the basic information for comparison with pregnancies having a pathological outcome.
Pregnant Women’s Cognitive Concept concerning Their Unborn prior to Prenatal Diagnosis
Authors: Kowalcek I. , Gembruch U.
Published: May 2008

Objective: We examined pregnant women’s expectations concerning their unborn babies prior to prenatal diagnosis and also the possible correlations with emotional characteristics such as anxiety and depression. Methods: The consecutive sampling consisted of 324 pregnant women presenting themselves between the 11th and 29th weeks of pregnancy for detection of foetal anomalies. The pregnant women noted their thoughts and expectations concerning their unborn using a choice of 18 adjectives in a 5-point Likert scale in a standardized questionnaire. Anxiety was recorded with the State-Trait Anxiety Inventory and depression with a depression scale. Results: By means of factor analysis (analysis of the main components by varimax rotation), it was possible to determine 4 factors (inherent value criterion >1) from the 18 items (adjectives). Those 4 factors indicate a total of 58.3% of the variance. The first factor scale, well-being, is characterized by 4 items, ‘happy’, ‘glad’, ‘carefree’ and ‘light-hearted’. The second factor scale, nervous, is identified mainly by the items ‘fidgety’, ‘excitable’, ‘restless’ and ‘excited’. The third factor scale, passive, is marked by the items ‘anxious’, ‘disheartened’ and ‘sleepy’. The fourth factor scale, vulnerable, is indicated by 3 items, ‘in need of protection’, ‘vulnerable’ and ‘clinging’. Scales 1, 2 and 3 gave evidence of significant correlations with trait intensity in the state and trait anxiety scale and in the scale for the assessment of depressive mood prior to prenatal diagnosis and state anxiety after prenatal diagnosis. Conclusion: The individual characteristics and attributes of the unborn child are differentiated prior to prenatal diagnosis. There is most certainly a link between the well-being of the pregnant woman and the effect it has on the emotional characteristics of her unborn child.
Consumerism in Prenatal Diagnosis? A Local Italian Study
Authors: Bellieni C.V. , Maffei M. , Brogna A. , Plantulli A. , Cervo E. , Reda M. , Signorini L. , Buonocore G. , Petraglia F.
Published: May 2008

Aim: To assess the causes of excessive use of prenatal diagnosis. Material and Methods: 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May–August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. Results: The mean number of ultrasound examinations per woman was 6.5 ± 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 ± 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman’s gynecologist. Conclusion: This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data.
Acute Premature Constriction of the Ductus Arteriosus after Maternal Self-Medication with Nimesulide
Authors: Prefumo Federico , Marasini Maurizio , De Biasio Pierangela , Venturini Pier Luigi
Published: May 2008

Objective: To describe clinical findings in a case of premature ductal constriction associated with maternal use of nimesulide, a cyclo-oxygenase type-2 inhibitor. Methods: Case report. Results: A mother self-administered nimesulide at 39 weeks of gestation due to lower back pain. Less than 24 h later premature ductal constriction was diagnosed by echocardiography following a suspicious fetal heart rate recording with baseline tachycardia and absent accelerations. Conclusion: In a term pregnancy, nimesulide administration can rapidly cause premature ductal constriction. This condition may induce abnormalities in the fetal heart rate trace.
Incidental Discovery of Nonpaternity during Prenatal Testing of Genetic Disease
Authors: Li Dongzhi , Liao Can
Published: May 2008

Many ethical considerations surround prenatal genetic diagnosis, some of which are not anticipated. We present 2 cases in which misattributed paternity was inadvertently discovered during the workup of a father and son and a father and fetus, and present arguments for and against disclosure of this information. We recommend that healthcare providers must be prepared to deal with this kind of issue.
Delivery Course of Macerated Stillborn Fetuses in the Third Trimester
Authors: Habek Dubravko
Published: May 2008

Aim: We present and discuss delivery (maternal and fetal) outcome of macerated stillbirths in the third trimester. Material and Methods: In this retrospective observational study, the course of labor was analyzed in 10 stillborn fetuses with a varying grade of maceration during the third trimester. Medical documentation on the course of pregnancy, maternity ward history and histopathology was used to analyze maternal demography data, course of labor, fetal birth weight and birth length, fetal findings (grade of maceration, concomitant finding of cord accidents) and maternal peripartum outcome. Results: Chronic cigarette smoking was recorded in 6, gestational hypertensive disease in 2, intrauterine growth retardation in 2 and abruptio placentae in 3 patients (in 2 of them due to gestational hypertensive disease). Six deliveries were induced by PGE2 vaginal gel, 2 were stimulated by oxytocin and 1 was initiated spontaneously. One primary cesarean section was performed for evident fetopelvic disproportion. Outlet vacuum extraction for prolonged second labor stage was performed in the macrosomic child in the quadripara and 1 manual assistance according to Bracht was necessary at delivery of a macerated stillborn fetus due to breech presentation. In 1 case of macerated stillborn fetus, head traction resulted in decapitation, therefore extraction with Braun hooks placed into axillary fossae was done to extract the retained macerated fetal body. According to pathoanatomical evaluation, there were 2, 4, 3 and 1 stillbirths with grade 0, I, II and III maceration, respectively. Nuchal cord strangulation and tightened knot were detected in 3 cases each. In 2 cases of abruptio placentae, the parturients developed obstetric shock with uterine atony and disseminated intravascular coagulation. There was no maternal mortality and no fetal malformations in our material. Conclusion: The peripartum course can be considerably compromised due to potential complications induced by autolytic (macerating) lesions and difficult course of labor and maternal outcome.
Prenatal Detection of Isochromosome 21 by QF-PCR
Authors: Gole Leena , Lian Ng Bee , Lian Ng Poh , Rauff Mary , Biswas Arijit , Choolani Mahesh
Published: May 2008

Objective: To compare rapid aneuploidy diagnostic tests with traditional karyotyping in the prenatal detection of Down syndrome due to isochromosome 21. Methods: Quantitative fluorescence PCR (QF-PCR) and fluorescent in situ hybridization (FISH) for chromosomes 13, 18, 21, X and Y were performed on uncultured amniotic fluid, followed by routine karyotyping. Chromosomal and microsatellite analysis of peripheral blood from parents was also carried out. Results: The QF-PCR screening showed a trisomic diallelic pattern for 5 of 6 markers spanning the long arm of chromosome 21. FISH showed 3 signals in the interphase cells for the region 21q22.13-q22 during LSI 21 probe mapping. Cultured amniotic fluid revealed an isochromosome 21 resulting in a 46,XX,i(21)(q10),+21 karyotype. Parental microsatellite analysis proved that the isochromosome was paternal in origin. Conclusion: The most informative analytical tool in this case appears to be QF-PCR, although a combination of QF-PCR and karyotyping provided the most evidence.
Conjoined Twins in a Trichorionic Quadruplet Pregnancy after Ovulation Induction with Clomiphene Citrate
Authors: Mendilcioglu Inanc , Simsek Mehmet
Published: May 2008

Objective: We report a case of conjoined twins in a trichorionic quadruplet pregnancy after ovulation induction with clomiphene citrate for anovulation. Methods: The diagnosis of a trichorionic quadruplet pregnancy was made in routine ultrasound at 11 weeks’ gestation. Results: Conjoined twinning was thoracopagus and presented with increased nuchal translucency. Selective termination of the conjoined twins was performed with potassium chloride injection. The patient delivered 2 healthy infants after an uneventful follow-up. Conclusion: Monozygotic twinning has increased with widespread usage of ovulation induction agents and assisted reproductive techniques. Early detection of conjoined twinning and chorionicity is essential for an optimal obstetric management and outcome.
Large Fetal Sacrococcygeal Teratomas: Could Early Delivery Improve Outcome?
Authors: Holcroft Cynthia J. , Blakemore Karin J. , Gurewitsch Edith D. , Driggers Rita W. , Northington Frances J. , Fischer Anne C.
Published: May 2008

Objective: To determine if gestational age (GA) at delivery or tumor size impacts outcome in neonates with very large sacrococcygeal teratomas (SCTs). Methods: Retrospective chart review from 1990 to 2006 of live-born infants with very large SCTs, defined as diameters exceeding 10 cm. Data analyzed using the independent t test and Fisher’s exact test, with p values <0.05 considered significant. Results: Nine infants with very large SCTs were identified. Six of the 9 infants survived, 4 of whom had evidence of early hydrops. Mean GA of survivors was 32.2 ± 3.7 versus 31.7 ± 0.6 weeks in nonsurvivors (p = 0.85). Infants with the largest SCTs did not survive. Conclusion: Risks of preterm delivery must be weighed against complications from further enlargement of very large SCTs and against the risks of in utero intervention.
Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening
Authors: Has Recep , Kalelioglu Ibrahim , Yuksel Atil , Ibrahimoglu Lemi , Ermis Hayri , Yildirim Alkan
Published: May 2008

Objective: To evaluate the contribution of nasal bone assessment in the first trimester Down syndrome screening. Methods: The fetuses which underwent first trimester screening with nuchal translucency (NT) measurement were evaluated for the absence or presence of nasal bone according to the instructions described by the Fetal Medicine Foundation, London. Results: Among the 1,807 fetuses included in the study, 9 had trisomy 21. The detection rate of Down syndrome with NT measurement was 77.8% (7/9) with a false-positive rate of 4.5%. Incorporation of biochemical tests (PAPP-A, and free β-hCG measurement) into the screening increased the detection rate to 88.9% (8/9) and decreased the false-positive rate to 3.6%. The prevalence of absent nasal bone was 7/1,798 (0.39%) in chromosomally normal fetuses, and 3/9 (33.3%) in Down syndrome fetuses. Sensitivity, specificity, positive predictive and negative predictive values of absence of nasal bone for trisomy 21 are 33.3% (CI: 0.12–0.64), 99.6% (CI: 0.99–0.99), 30% (95% CI: 0.11–0.53) and 99.7% (95% CI: 0.99–0.99), respectively. The positive likelihood ratio of absent nasal bone was 85.6 (95% CI: 26.2–279.5), and the negative likelihood was 0.67 (95% CI: 0.42–1.06). When nasal bone assessment was incorporated into the NT risk assessment or combined test, the detection rate of trisomy 21 was not changed, however, the false-positive rate decreased to 3.4 and 3%, respectively. Conclusion: The absence of fetal nasal bone has a high positive likelihood ratio for Down syndrome in the first trimester screening, and the presence of nasal bone may potentially lower the need for invasive testing.
Endothelin B Receptors on Vascular Smooth Muscle Cells of the Human Umbilical Vein Mediate Vasoconstriction
Authors: Mildenberger Eva , Biesel Beatrix , Siegel Günter , Versmold Hans T.
Published: May 2008

Objective: To test the hypothesis that smooth muscle cells of the human umbilical vein have vasoconstricting endothelin B (ETB) receptors. Methods: In strip preparations of human umbilical veins isometric tension after exposure to the selective ETB receptor agonist sarafotoxin S6c (S6c) was compared to the tension before S6c exposure (set as 100%). Results: In intact preparations S6c induced vasoconstriction only at the highest concentration applied (10–8M; 149.5 ± 12.5 vs. 100%, p < 0.05). In contrast, in endothelium-denuded preparations S6c induced vasoconstriction already at the lowest S6c concentration investigated (10–11M; 111.7 ± 4.3 vs. 100%, p < 0.05). Conclusions: The vasoconstricting effect of S6c in endothelium-denuded human umbilical vein preparations points to smooth muscle cell ETB receptor activation.
A Case of Thanatophoric Dysplasia: The Early Prenatal 2D and 3D Sonographic Findings and Molecular Confirmation of Diagnosis
Authors: Wong H.S. , Kidd A. , Zuccollo J. , Tuohy J. , Strand L. , Tait J. , Pringle K.C.
Published: May 2008

Objective: To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. Methods: On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks’ gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 gene indicating thanatophoric dysplasia. Results: After medical termination of pregnancy, the postmortem X-ray and pathology examination findings were consistent with the diagnosis. Conclusion: 3D anatomy scan and molecular confirmation may be helpful in early diagnosis and genetic counseling of thanatophoric dysplasia.
Serum Hyperglycosylated Human Chorionic Gonadotropin to Predict the Gestational Outcome in in vitro Fertilization/Intracytoplasmic Sperm Injection Pregnancies
Authors: Bersinger N.A. , Wunder D.M. , Nicolas M. , Birkhäuser M.H. , Porquet D. , Guibourdenche J.
Published: May 2008

Hyperglycosylated human chorionic gonadotropin (H-hCG) is secreted by the placenta in early pregnancy. Decreased H-hCG levels have been associated with abortion in spontaneous pregnancy. We retrospectively measured H-hCG and dimeric hCG in the sera of 87 in vitro fertilization patients obtained in the 3 weeks following embryo transfer and set the results in relation to pregnancy outcome. H-hCG and dimeric hCG were correlated (r2 = 0.89), and were significantly decreased in biochemical pregnancy (2 µg/l and 18 IU/l, respectively) compared to early pregnancy loss (22 µg/l and 331 IU/l) and ongoing pregnancy (32 µg/l and 353 IU/l). Only H-hCG tended to discriminate between these last two groups.
Jejunal Perforation following Screening Colonoscopy
Authors: Pasumarthy Lakshmi , Srour James , Johnson Dennis
Published: May 2008

Colonoscopy is rarely associated with complications such as colonic perforation. Perforation of the small bowel is extremely rare, especially if the procedure is done without therapeutic interventions. Several factors are associated with this entity. Perforation of the ileum has been reported, but proximal jejunal perforation secondary to rupture of jejunal diverticulum during colonoscopy has not been reported. We present the case of an 88-year-old patient who developed abdominal pain after undergoing colonoscopy without any additional interventions. Urgent exploration revealed perforation of the proximal jejunum secondary to rupture of a jejunal diverticulum. No therapy or biopsies were undertaken during the colonoscopy, which are known predisposing factors.
Interaction of the HMG-CoA Reductase Inhibitor Lovastatin and Nitric Oxide in Cardiomyocyte Cell Death
Authors: Rabkin Simon W. , Tsang Michael Y.
Published: May 2008

Aim: The objective of this study was to examine the interaction ofa 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor (statin) with a nitric oxide (NO) donor from the perspective of the impact on cardiomyocyte cell viability. Methods: Embryonic chick cardiomyocytes in culture were treated with a wide range of concentrations of sodium nitroprusside (SNP), which releases NO and also generates toxic reactive nitrogen species. SNP was combined with the HMG-CoA reductase inhibitor lovastatin and cell viability was assessed by the MTT [3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide] assay. Results: SNP and lovastatin each produced a significant (p < 0.01) concentration-dependent increase in cell death. Using SNP concentrations at or below the ED50, SNP (0.01, 0.1 or 0.5 mmol/l) increased the amount of cell death when combined with lovastatin (1, 10, 50 and 100 µmol/l). At lovastatin concentrations of 50 µmol/l and less, the amount of cell death was consistently similar to the arithmetic sum of SNP and lovastatin, suggesting that there was an additive and not synergistic relationship between SNP and lovastatin. In combination with lovastatin (100 µmol/l), however, the amount of cell death was consistently lower than the calculated expected value and suggested saturation of a common mechanism. The combination of SNP and lovastatin produced the characteristic microscopic changes of apoptosis. Considering that both SNP and lovastatin can activate caspase-3, cells were treated with the caspase-3 inhibitor Ac-DEVD-CHO. This inhibitor produced a significant (p < 0.05) and consistent 30% reduction in the amount of cell death induced by SNP and lovastatin. Conclusion: These data suggest that the cardiomyocyte toxicity from NO continues to be evident uninterrupted by and not accentuated by the presence of an HMG-CoA inhibitor. The cardiac adverse effect of each of these agents utilizes a common pathway involving caspase-3 so that their cardiotoxicity can be blunted by a caspase-3 inhibitor.
Adverse Effects of Glucocorticoid Therapy for Inner Ear Disorders
Authors: García-Berrocal José Ramón , Ramírez-Camacho Rafael , Lobo David , Trinidad Almudena , Verdaguer José María
Published: May 2008

Background: Because of their anti-inflammatory effects and suppression of the immune system, glucocorticoids have been widely used in otolaryngologic disorders and perioperative conditions. Objective: The objective of the present study was to determine the incidence of adverse effects after the administration of glucocorticosteroids in patients affected by diverse inner ear disorders. Methods: One hundred and sixty-three patients affected by sudden sensorineural hearing loss, 39 with progressive sensorineural hearing loss and 16 with fluctuating sensorineural hearing loss were subjected to glucocorticosteroid therapy with 6-methylprednisolone at a starting dose of 1 mg/kg body weight per day; this therapy was tapered during the next 21–28 days. In 20 patients with profound hearing loss (>70 dB), 3 boluses of prednisolone-21-hydrogen-succinate (500 mg per day) were administered. After receiving the boluses, these patients continued with the oral 6-methylprednisolone scheme. Results: Mild adverse effects were observed in 16 patients (7.01%). Only 2 patients (0.9%) with sudden sensorineural hearing loss showed severe complications: peptic ulcer and avascular necrosis of the femoral heads. Conclusions: The low percentage of severe adverse effects observed in the present study validates the use of corticosteroids for the treatment of inner ear disorders although we should not underestimate these rare complications.
Development of a Human in vivo Method to Study the Effect of Ultraviolet Radiation and Sunscreens in Melanocytic Nevi
Authors: Carrera Cristina , Puig Susana , Llambrich Alex , Palou Josep , Lecha Mario , Massi Daniela , Malvehy Josep
Published: May 2008

Background: Ultraviolet radiation (UVR) plays an important role in the development of melanocytic lesions. Sunscreens have shown an impact in the prevention of UVR damage; however, their role in melanocytes has not been well established. The aim was to design and validate an in vivo human model to study the influence of UVR and sunscreen protection on nevi. Methods: A model describing clinical, dermoscopic, histopathological and molecular changes after UVR with or without protection was elaborated. Two UVB minimal erythema doses were irradiated on 4 nonsuspicious nevi from 4 patients; previously one half of each lesion was protected, in 2 cases with a physical opaque material and in the other 2 lesions by applying a high physical and chemical protection sunscreen (containing octocrylene, Parsol 1789, titanium dioxide, Mexoryl SX™, Mexoryl XL™). Lesions were excised 7 days afterwards. Results: After 7 days, clinical and dermoscopic changes (more pigmentation, erythema, dotted vessels, blurred network) were noted comparing the lesions before and after irradiation, especially when comparing both sides of each nevus (protected and nonprotected). Histopathological and immunohistochemical studies demonstrated marked melanocytic activation on nonprotected areas and a high proliferation index of keratinocytes. Both physical and sunscreen protections seem to avoid these changes. Conclusion: A useful and secure human model to study the UVR influence, and efficacy of sunscreens, on melanocytic lesions was developed. In vivo and ex vivo differences between irradiated nevus versus irradiated nevus plus sunscreen or physical protection were found.
Two Cases of Cellulitis in the Course of African Tick Bite Fever: A Fortuitous Association?
Authors: Bouvresse Sophie , Del Giudice Pascal , Franck Nathalie , Buffet Marc , Avril Marie-Françoise , Mondain Véronique , Rolain Jean-Marc , Raoult Didier , Dupin Nicolas
Published: May 2008

In African tick bite fever (ATBF), inoculation eschar – resulting from disruption of the cutaneous barrier – may be a risk factor for cellulitis. We report 2 cases of ATBF associated with cellulitis. A 77-year-old woman was referred for severe leg cellulitis upon returning from sub-Saharan Africa. She developed erythematous macules. Rickettsia africae was detected by PCR assay from a skin biopsy specimen, and ATBF diagnosis was confirmed. A 75-year-old man was hospitalized after his return from Zimbabwe for a maculopapular exanthema and erysipelas-like rash of the leg. The diagnosis of cellulitis associated with ATBF was confirmed by PCR and serological methods. Both patients were treated for ATBF and cellulitis by a combination of doxycycline and β-lactam antibiotics, and both had a good recovery. Inoculation eschar may be a risk factor for cellulitis; thus, we hypothesize a non-fortuitous association between ATBF and cellulitis.
Transcutaneous Electrogastrography in Patients with Ileus
Authors: Fraško R. , Maruna P. , Gürlich R. , Trca S.
Published: May 2008

Background: The aim of the prospective study was to characterize the disturbance of gastric electrical control activity in different types of ileus and to correlate surface electrogastrography (EGG) findings with a set of inflammatory markers. Patients and Methods: Fifty-four adult patients with mechanic, vascular and paralytic ileus proven on clinical and radiological exams and 14 age- and sex-matched controls were examined. Gastric myoelectrical activity was recorded using 3 Ag-AgCl disposable skin electrodes connected in pseudo-unipolar mode by Microdigitrapper device. The captured signal was amplified and digitalized. The dominant frequency was calculated using computerized algorithms (Fast Fourier transform and running spectrum analysis). The results were correlated with the known pathological diagnoses and 4 inflammatory parameters – interleukin (IL)-1β, IL-6, procalcitonin (PCT) and C-reactive protein. Results: Irregular EGG activity without a dominant frequency or bradygastria (electrical control activity frequency <2.4 cycles/min) was seen in all patients with both vascular and parayltic ileus and in 67.86% of the patients with obstructive ileus. Normogastria (2.4–3.7 cycles/min) was found in 32.14% of the patients with obstructive ileus. Among the patients with obstructive ileus and bradygastria, higher concentrations of IL-6 (642.0 ± 214.7 ng/l) and PCT (0.93 ± 0.22 µg/l) were observed compared with the patients with normogastria – IL-6 (354.5 ± 109.2 ng/l), PCT (0.69 ± 0.11 µg/l); p < 0.05 for both. The C-reactive protein concentration did not differ in both subgroups on p < 0.05. Conclusions: EGG examination confirmed a high sensitivity in the evaluation of gastric electrical control activity in both vascular and paralytic ileus. Significant correlation of EGG findings and both IL-6 and PCT plasma levels supports a role of the inflammatory milieu in the pathogenesis of impaired gastric electrical activity in patients with ileus.
A New Model of Skull Base Reconstruction following Expanded Endonasal or Transoral Approaches – Long-Term Results in Primates
Authors: Charalampaki P. , Heimann A. , Kockro R.A. , Kohnen W. , Kempski O.
Published: May 2008

Objective: The direct endonasal or transoral transclival approaches to the skull base permit effective minimally invasive surgery along the clivus region. Developing consistently effective techniques to prevent cerebrospinal fluid (CSF) leaks and their consequences (infections and healing processes with long and complicated recoveries) remains a major challenge. In this study, we tested over a long period a method of bone reconstruction newly developed by us, which makes use of a specially designed elastic silicone plug that can be employed for bone replacement after minimally invasive skull base surgery without risk of postoperative CSF leaks. After acute testing of plug efficiency in a pig model, which showed a 100% closure of the bone defect without CSF leak, we now tested the long-term accuracy of the plugs. Methods: In 3 primates, we used an endoscope-controlled transoral transclival approach and after opening the dura we simulated a CSF leakage. We inserted the plug into the bone defect and closed the mucosa of the oral cavity with stitches. The follow-up included blood, weight, and wound control 1, 4 and 8 weeks postoperatively. Social behavior, such as reintegration and postoperative eating abnormalities, was also studied. The aims of this study were: (1) testing the biocompatibility of the material; (2) development of infection against the foreign body; (3) effects of the plug on the surrounding bone, and (4) development of CSF leakages during the postoperative phase. Results: Clinically no infection was seen. Wound healing, immediate and long-term postoperative social behavior of the animals, feeding and body weight were normal. No CSF leakages developed. The histological examination of the clivus bone showed no abnormalities. The implant was covered by fibrous layer; there was no bone atrophy but osteoid formation. Conclusion: This novel medical device allows easy, fast and uncomplicated, leak-proof closure of bone defects after minimally invasive craniotomies as seen in transsphenoidal or transoral skull base approaches.
Congenital Glioblastoma Multiforme: Case Report and Review of the Literature
Authors: Hou Lewis C. , Bababeygy Simon R. , Sarkissian Vahe , Fisher Paul G. , Vogel Hannes , Barnes Patrick , Huhn Stephen L.
Published: May 2008

Congenital glioblastoma multiforme is a rare primary brain tumor that has a unique biology distinct from pediatric and adult variants. In this report, we present a case of congenital glioblastoma with complicated management course. A literature review of previously reported cases is included to illustrate the epidemiology and natural history of this disease. A 9-month-old male infant developed acute lethargy, hemiparesis and unilaterally dilated pupil. Imaging studies revealed a large hemispheric tumor, resulting in significant midline shift suggestive of impending herniation. Emergent tumor cystic fluid drainage was performed at initial presentation. A frontotemporoparietal craniotomy was performed on the following day to attempt a gross total resection. Adjuvant chemotherapy consisting of oral temozolomide was administered. The patient eventually succumbed 4 months later due to aggressive tumor progression. Congenital glioblastoma should be included in the differential diagnosis of infants with large intracranial tumors. Although surgical intervention may increase survival, the overall outcome remains poor despite maximal multimodal treatment.
Intraoperative Confirmation of Hand Motor Area Identified Preoperatively by Magnetoencephalography
Authors: Pang Elizabeth W. , Drake James M. , Otsubo Hiroshi , Martineau Allison , Strantzas Samuel , Cheyne Douglas , Gaetz William
Published: May 2008

Background: Presurgical functional mapping using magnetoencephalography (MEG) has been performed for somatosensory, auditory and visual functions; however, the traditional analysis method utilizing dipole source analysis has some inherent limitations when applied to the mapping of cortical motor areas. Recently, a novel source reconstruction algorithm [event-related synthetic aperture magnetometry (erSAM)] has demonstrated success for the localization of motor function in healthy adults. We applied this technique to preoperatively map motor function in a young patient. We then confirmed our mapping with direct cortical stimulation intraoperatively. Methods: This is a case report of an 8-year-old girl with right hand and arm weakness and poor right hand motor control secondary to a left peri-rolandic tumor. Preoperatively, whole-head MEG was recorded while the patient performed a self-paced button pressing task. Cortical activity associated with the onset of movement was localized to the right hand precentral gyrus superior and medial to the tumor using erSAM, while sensory function was localized posterior to the tumor on the postcentral gyrus. Results: Intraoperative direct cortical stimulation of the motor area identified by MEG resulted in electromyographic activation of intrinsic muscles of the contralateral hand exclusively. Conclusions: This is the first report of a case where direct cortical stimulation has confirmed a motor cortical location identified by the erSAM method.
Intradural Extracerebral Choristoma
Authors: Park Jung Eon , Park Myong Chul , Yoon Soo Han , Kim Jang Hee
Published: May 2008

Background: Intracranial extracerebral neuroglial choristoma is a very rare entity. A cleft palate or a nasopharyngeal teratoma has been described as accompanying choristoma, but there are no observations of both anomalies being simultaneously present and combined. Methods: An 8-month-old girl presented with seizures, without evidence of any other neurological abnormalities. Brain magnetic resonance imaging demonstrated a 2.0-cm-sized, round-shaped mass in the frontal midline. The T1- and T2-weighted images showed a well-circumscribed iso-signal intensity lesion with no gadolinium enhancement. Results: Surgical exploration revealed a yellowish tumor mass with whitish soft tissue material within the tumor, adherence to the surrounding blood vessels, and therefore subtotal removal was performed. Pathologic examination was neuroglial choristoma with 1.5% of MIB-1 labeling index. The patient also had a cleft palate with a pinkish palatal mass and underwent repair of the cleft palate, and excision of mass that was a mature cystic teratoma on pathologic examination. Follow-up at 18 months later showed that there was no evidence of tumor regrowth or neurological deficit, and the neurological development was normal. Conclusion: The authors described a rare case of intracranial extracerebral neuroglial choristoma accompanied by both nasopharyngeal teratoma and cleft palate and suggested its benign nature from the low MIB-1 labeling index.
Spontaneous Thrombosis of Giant Cavernous Internal Carotid Artery Aneurysm in a Neonate
Authors: Kasliwal Manish Kumar , Suri Ashish , Sai Kiran Narayanam Anantha , Sharma Bhawani Shanker
Published: May 2008

Neonatal intracranial aneurysms are rare, with only 20cases being reported in the literature. No case of spontaneous resolution of a giant intracranial cavernous segment aneurysm in a neonate is reported till date. The authors describe a 3-week-old male child who presented with a left-sided tonic seizure episode and was diagnosed as having a right-sided giant cavernous internal carotid artery aneurysm. The aneurysm was found to be totally thrombosed on angiography done before planning definitive treatment. The child is doing well at 2 years of follow-up. Spontaneous thrombosis, an exceptionally rare but fortunate outcome in a rare case of giant neonatal internal carotid artery aneurysm, has led the authors to report this case. The need of repeat imaging or angiography should be considered to rule out this rare outcome, more so if there is any delay between the ictus and treatment.