Frequency Of Anomalies Research Articles

Corals escape bleaching in regions that recently and historically experienced frequent thermal stress

The response of coral-reef ecosystems to contemporary thermal stress may be in part a consequence of recent or historical sea-surface temperature (SST) variability. To test this hypothesis, we examined whether: (i) there was a relationship between the historical frequency of SST variability and stress experienced during the most recent thermal-stress events (in 1998 and 2005-2006) and (ii) coral reefs that historically experienced frequent thermal anomalies were less likely to experience coral bleaching during these recent thermal-stress events. Examination of nine detrended coral delta(18)O and Sr/Ca anomaly records revealed a high- (5.7-year) and low-frequency (>54-year) mode of SST variability. There was a positive relationship between the historical frequency of SST anomalies and recent thermal stress; sites historically dominated by the high-frequency mode experienced greater thermal stress than other sites during both events, and showed extensive coral bleaching in 1998. Nonetheless, in 2005-2006, corals at sites dominated by high-frequency variability showed reduced bleaching, despite experiencing high thermal stress. This bleaching resistance was most likely a consequence of rapid directional selection that followed the extreme thermal event of 1998. However, the benefits of regional resistance could come at the considerable cost of shifts in coral species composition.

Detection of chromosomal anomalies in uterine endometrial carcinoma using fluorescence in situ hybridization (UteroFISH)

5533 Background: Endometrial cancer is the most common pelvic gynecological malignancy. The diagnosis of well-differentiated endometrial adenocarcinoma, atypical hyperplasia, and marked hyperplasia is often challenging. We sought to investigate the utility of chromosomal anomalies for the detection of uterine endometrial carcinoma using multitarget fluorescence in situ hybridization (FISH). Methods: Samples were collected by endometrial brush and processed by liquid-based thin-layer cytological preparation protocol. For study, we collected cytology slides from consecutive cases to include 50 benign, 50 hyperplasia without atypia, 50 atypical hyperplasia, and 50 endometrial cancers. Each was hybridized using fluorescence labeled DNA probes to chromosomes 1, 8, and 10 (UteroFISH). The FISH signals were enumerated in 100 cells per case, and the chromosomal anomalies were correlated with pathologic findings, including histologic diagnoses on endometrial tissue samples. Results: Numeric chromosomal anomalies were found in 0% (0/50) of benign, 20% (10/50) of hyperplasia, 76% of atypical hyperplasia (38/50), and 86% (43/50) of carcinoma specimens. The mean percentage of cells with chromosomal changes was 54% in cancer specimens, significantly higher than that in hyperplasia without atypia (13%, p< 0.0001) and atypical hyperplasia (34%, p< 0.0001). The most frequent chromosomal anomaly was gain of chromosome 1. FISH anomalies had an overall sensitivity of 81% and specificity of 90% for the detection of atypical hyperplasia and/or endometrial carcinoma. There was no association with grade of endometrial carcinoma. Conclusions: Multi-target UteroFISH appeared to be useful for the differential diagnosis of reactive hyperplasia, atypical hyperplasia, and endometrial adenocarcinoma, with a high level of sensitivity and specificity. Endometrial hyperplasia with FISH-detected chromosomal anomalies may require close clinical follow-up. No significant financial relationships to disclose.

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.

ObjectiveHypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (DSD). We hypothesized that NR5A1 mutations could be identified in boys with hypospadias.Design and methodsMutational analysis of NR5A1 in 60 individuals with varying degrees of hypospadias from the German DSD network.ResultsHeterozygous NR5A1 mutations were found in three out of 60 cases. These three individuals represented the most severe end of the spectrum studied as they presented with penoscrotal hypospadias, variable androgenization of the phallus and undescended testes (three out of 20 cases (15%) with this phenotype). Testosterone was low in all three patients and inhibin B/anti-Müllerian hormone (AMH) were low in two patients. Two patients had a clear male gender assignment. Gender re-assignment to male occurred in the third case. Two patients harbored heterozygous nonsense mutations (p.Q107X/WT, p.E11X/WT). One patient had a heterozygous splice site mutation in intron 2 (c.103-3A/WT) predicted to disrupt the main DNA-binding motif. Functional studies of the nonsense mutants showed impaired transcriptional activation of an SF-1-responsive promoter (Cyp11a). To date, adrenal insufficiency has not occurred in any of the patients.ConclusionsSF-1 (NR5A1) mutations should be considered in 46,XY individuals with severe (penoscrotal) hypospadias, especially if undescended testes, low testosterone, or low inhibin B/AMH levels are present. SF-1 mutations in milder forms of idiopathic hypospadias are unlikely to be common.

Polypharmacy and the lack of oculo-visual complaints from those with mental illness and dual diagnosis

Background Individuals with mental illness (MI) and intellectual disability (ID) are characterized as dually diagnosed (DD). These individuals are known to have numerous systemic and oculo-visual anomalies. This comorbidity of conditions should elicit frequent oculo-visual complaints from these patients during the initial review of systems. A search of MedLine yielded one article that was published on oculo-visual symptomology/pain associated with MI and DD. This report appears to be the first to assess the frequency of these symptoms within these 2 unique populations. Methods A retrospective analysis of all medical records for patients (N = 202) evaluated at the Neumann Association (NA) Developmental Disabilities Service of the Illinois Eye Institute was completed. Only the records of patients who had either MI or DD and who were prescribed antipsychotics, antidepressants, anticonvulsants, or tranquilizers/anxiolytics were used for our analysis. Upon record review, 89.9% of MI and 59.4% of DD individuals met the above subject criteria. We determined the frequency of ocular anomalies, drugs taken, and complaints reported by patients during the initial review of systems. Results The most common documented side effects for the targeted drug types were decreased or blurred vision (near or far), visual hallucinations, decreased accommodation, and eyelid/conjunctiva irregularities. In our sample, the most frequent ocular anomalies encountered were astigmatism (50% MI and 37.84% DD), myopia (60.71% MI and 62.16% DD), presbyopia (35.71% MI and 37.84%DD), and blepharitis (32.14% MI and 32.43%DD). Additionally, the most frequently encountered complaints were no complaints (45.16% MI and 46.84% DD), blurry vision (17.74% MI and 17.72% DD), and need new glasses (11.29% MI and 17.72% DD). Conclusions It has been established that MI and DD populations exhibit a higher incidence of oculo-visual anomalies (uncorrected refractive error, binocular vision anomalies, ocular pathology) than noted in the general population. They are also typically taking 1 or more neuropsychotropic medications that are frequently associated with undesirable visual side effects. Individuals with MI and DD should report numerous complaints associated with the medications they take and the oculo-visual anomalies they exhibit during the initial case history and the review of systems. The data from this study suggest that this is not the case and that only about 50% of those who should have complaints actually report them.

Arachnoid cysts of the fourth ventricle - short illustrated review

Arachnoid cysts are frequent anomalies of the CNS. They are benign lesions within the arachnoid membrane and have been reported to occur in virtually all locations where arachnoid is present. An intraventricular location, however, is rare and occurrence within the fourth ventricle is particularly uncommon. The first report was published in 1979 on a paediatric patient. Since then, only a few further examples have been reported. Most of these patients presented with hydrocephalus. Shunting procedures were performed, but did not afford long-term improvement of symptoms. Definitive treatment consisted of open resection of the cyst-wall. We report a 34-year-old woman with a large arachnoid cyst within the fourth ventricle who suffered from progressive cerebellar dysfunction. MRI showed massive enlargement of the fourth ventricle by an intraventricular arachnoid cyst which contained multiple septations. Complete excision of the cyst was necessary to reinstitute free CSF-flow and was performed via a median suboccipital approach. This report gives an overview of examples published to date and discusses pathogenesis and clinical features of arachnoid cysts in this location as well as operative strategies including neuroendoscopic techniques.

Cytogenetic findings in a rare pediatric mixed glioneuronal tumor and review of the literature

The aim of the present study was to report the chromosomal abnormalities findings in rare pediatric mixed glioneuronal tumor (GNT), which could not be classified according to the WHO classification. Cytogenetic studies were performed using G-banding and fluorescence in situ hybridization (FISH) techniques. Cytogenetic analyses showed a deletion of 1p as primary genetic event and gain of chromosome 7 as secondary change. Furthermore, we present a review of available cytogenetic data of 72 pediatric patients with GNT. Taken into account these data and the present case, we found that the most frequent chromosomal anomalies involved gains of chromosomes 7 (15.1%), 5 (8.2%), 1q32-qter (6.8%), 8p21-qter (6.8%), 12 (5.5%), 18 (5.5%), 20q11-qter (5.5%), and X (5.5%). Frequent losses were detected on chromosome regions 1p (8.2%) and 22q (5.5%). The findings of our case combined with those of previous reports suggest that chromosomes 1 and 7 may contain candidate genes involved in the tumorigenesis of GNT.

Les anomalies de l’ hepatocyte nuclear factor (HNF)-1β : mécanismes biologiques, phénotypes et conséquences cliniques

The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role in the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic development of these organs. TCF2 mutations are known to be responsible for maturity-onset diabetes of the young type 5, associated with renal manifestations. Several studies have shown that TCF2 mutations are involved in restricted renal phenotypes. In a recent study, TCF2 anomalies were detected in one third of patients with renal anomalies such as renal cysts, hyperechogenicity, hypoplasia, or single kidneys. Most patients have a complete deletion of the TCF2 gene. With de novo TCF2 anomalies, deletions were the most frequent anomaly. TCF2 anomalies were significantly associated with bilateral renal anomalies and bilateral cortical cysts. However, no genotype-phenotype correlation could be detected. The prenatal phenotype of TCF2 anomalies is mainly bilateral hyperechogenic kidneys. Abnormal renal function, detected in about one third of patients, was independent of the TCF2 genotype. The best parameter to predict renal outcome remains sonographic evaluation. However, progression of the TCF2 phenotype is common. In conclusion, TCF2 molecular anomalies are involved in restricted renal phenotype in childhood without alteration of glucose metabolism. Adequate metabolic follow-up of pediatric patients with a restricted renal phenotype has not yet been defined and consideration of prenatal diagnosis remains extremely difficult given the extremely large phenotypic variability within the same family.

Hernia interna de divertículo de Meckel como causa de obstrucción intestinal en un senescente

Internal hernia of Meckel diverticulum in elderly patient Meckel Diverticulum is the most frequent gastrointestinal congenital anomaly. General population incidence is 2%. Complications develop in 4 to 30% of the cases, where over 50% present during the first decade. This high incidence progressively decreases to cero in elderly patients, as some authors propose. Bowel obstruction, the most prevalent complication in adults, occurs by different mechanisms; however there is no available publication that mentions an internal hernia of Meckel Diverticulum through colonic mesentery. Meckel Diverticulum complications are rare in elderly patients; moreover an internal hernia generating bowel obstruction is even more infrequent. We present a 75-year-old male patient with bowel obstruction produced by a Meckel Diverticulum herniated through colonic mesentery.

Vena cava superior izquierda persistente: Implicaciones en la cateterización venosa central

The placement of central catheters through the subclavian and jugular venous path can be complicated by the cannulation of an artery or an aberrant venous path. The most frequent anomaly of the embryological development of the caval vein is the persistence of the left superior vena cava (LSVC). The implantation of catheters in the LSVC can be suspected by its anomalous route in thorax radiography. Gasometry and the pressure curve of the vessel make it possible to rule out an arterial catheterisation. Diagnostic confirmation is obtained through angiography, echocardiography, computerised tomography or cardiac resonance. The doctor who regularly implants central venous catheters must be familiar with the anatomy of the venous system and its variants and anomalies, since their presence might influence the handling of the patient.

Eine biventrikuläre hypertrophe Kardiomyopathie als Initialsymptom eines transitorisch myeloproliferativen Syndroms bei einem Neugeborenen mit Down Syndrom

Down's syndrome is the most frequent autosomale chromosomal anomaly in newborns. In up to 10% of the cases these children develop a transient myeloproliferative disorder (TMD). Clinical symptoms are blood count disorders and raised liver enzymes. 15% of these neonates suffer from hepatic disorders. Complications can lead to effusions, liver fibrosis and multiple organ failure. In 20-30% of these cases the children develop subsequently acute myeloid leukemia. We report about a male, term newborn [birth weight 2 810 g (P10), length 49 cm (P30), head circumferance 35 cm (P50), APGAR 7/8/10] with hydrops fetalis. In the follow-up examination a pericardial effusion and increasing biventricular hypertrophic cardiomyopathy were obvious. A chemotherapy with cytarabine was initiated for five days. In further examinations cardiac recovery was observed. To the best of our knowledge this is the first case report of a term newborn with TMD and biventricular hypertrophic cardiomyopathy.

Novel ϵ subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome

The slow-channel congenital myasthenic syndrome is a frequent kinetic anomaly of the acetylcholine receptor (AChR). We report a family with a slow-channel congenital myasthenic syndrome that carries a novel mutation...

Congenital anomalous aortic origins of the coronary arteries in adults: A Tunisian coronary arteriography study

There is a lack of Tunisian data on the frequency and clinical significance of different coronary artery anomalies. All patients who underwent coronary angiography from March 1996 to December 2006 were considered. Only patients with congenital anomalous aortic origin of the coronary artery were included. Among 7330adult patients who underwent diagnostic coronary angiography, 20 (0.27%) patients (13men; mean age 53.3years) had anomalies of the coronary artery origin. The right coronary artery was the vessel involved most frequently (n=10); it originated separately from the left sinus of Valsalva (SV) in three patients and from the posterior sinus of Valsalva in one patient. In the other patients, it arose from the left main coronary artery or its branches in a single coronary artery originating from the left sinus of Valsalva. Isolated anomalous left circumflex artery was the second most frequent anomaly (n=6). Isolated anomalous left anterior descending artery was seen in one patient. A single coronary artery arising from the right SV was seen in three patients. Atheroslerotic lesions were seen in eight cases. Four patients underwent coronary revascularization; the remainder received medical management. All 20 patients are alive and had an uneventful follow-up (mean 34.2months). In Tunisia, the incidence of congenital anomalous aortic origin of the coronary artery in adults is 0.27%. The right coronary artery is involved most frequently. Medical management seems promising.

Epidemiologic Study of the Prevalence and Awareness of Cryptorchidism, Hydrocele, and Varicocele in Elementary Schools in Gwangju

Purpose: We investigated the prevalence and parent's concern of cryptorchidism, hydrocele and varicocele among elementary school boys. Materials and Methods: A total of 1,795 elementary school boys who resided in Gwangju were investigated by questionnaires. Among them, 1,115 boys who agreed to a physical checkup underwent physical examination between May and June 2007. Results: The most frequent anomaly was hydrocele, which was seen in 37 boys (3.31%) on questionnaires and physical examination. The other anomalies were cryptorchidism in 17 boys (1.52%) and varicocele in 7 boys (0.62%). Most of the boys and their parents were not aware of their cryptorchidism (70.58%) and varicocele (71.42%). The boys who replied in questionnaires that they had been diagnosed with hydrocele appeared to had undergone hydrocele repair in the past. Conclusions: By survey, the prevalence rates of cryptorchidism, hydrocele, and varicocele were 3.31%, 1.52%, and 0.62%, respectively. Education of the public and primary care physicians about cryptorchidism and varicocele and a screening system are needed to achieve better therapeutic outcome. (Korean J Urol 2009;50:278-281) 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏

Metameric Malformations of Opisthosoma in Tegenaria Atrica (Araneae, Agelenidae)

Metameric Malformations of Opisthosoma in Tegenaria Atrica (Araneae, Agelenidae) The opisthosoma of Tegenaria atrica is characterized by a high morphological stability, as it is exceptionally resistant to the teratogenic effect of most abiotic factors except temperature. The least frequent opisthosomal anomalies found in our experimental material were disturbances in the colouring of opisthosoma. Another rare anomaly was the elongation of the postspinneret zone of the opisthosoma, resembling the postabdomen of other arachnids. The occurrence of a much narrower elongation, sometimes with traces of segmentation, resembling the postabdomen the advanced spider, can be interpreted as a specific atavism. An equally rare anomaly was the presence of two independent anal orifices in the postspinneret zone. All the above-described anomalies appear extremely rarely, and some of them are related to the atavistic characteristics observed in the spiders' ontogeny.

Prosthodontic Rehabilitation Alternative of Patients with Cleft Lip and Palate (CLP): Two Cases Report

Although patients with cleft lip and palate (CLP) are not seen regularly in general dental practice, this is a frequent congenital anomaly; approximately one in every 800 live births results in a CLP. The cause of CLP is unknown, but possible causes are malnutrition and irradiation during pregnancy, psychological stress, teratogenic agents, infectious agents (viruses), and inheritance. Most clefts are likely caused by multiple genetic and nongenetic factors. Prosthetic reconstruction of the anterior maxilla is important for these patients. This paper describes the prosthetic rehabilitation of two patients with CLP, 19-year-old and 21-year-old women, both with surgically treated CLP. In both, an examination revealed a residual palatal defect of 2 × 3 mm and missing maxillary lateral incisors. The 19-year-old was treated with a fiber-reinforced composite resin-bonded fixed partial denture. The 21-year-old was treated with a removable partial denture with an extracoronal attachment system. The prosthetic rehabilitation of the two patients with CLP was evaluated clinically. In both, well-planned prosthetic, periodontal, and surgical therapy resulted in satisfactory function and esthetics, alleviating their deformities. With education and appropriate recall, the patients should be able to maintain their oral health.

Sonographic Findings in Trisomy 9

The purpose of this study was to identify the most common prenatal sonographic findings in fetuses with complete trisomy 9. A retrospective review of all cases of trisomy 9 at 5 participating institutions over a 15-year interval was conducted. Indications for referral and sonographic findings in each case were reviewed to identify characteristic fetal structural anomalies. Six cases of trisomy 9 are presented. Most patients were referred for abnormal sonographic findings on screening examinations (66%) or advanced maternal age (33%). Fetal heart defects and central nervous system malformations were the most frequent sonographic anomalies seen. Sonographic findings in trisomy 9 are similar to those found in other autosomal trisomies. Because trisomy 9 is uniformly lethal and is not included as part of the standard prenatal aneuploidy screening by fluorescence in situ hybridization analysis, clinicians should be cautious in counseling patients with structurally abnormal fetuses until the full karyotype is available.

Treatment with Human Chorionic Gonadotropin Induces Left Ventricular Mass in Cryptorchid Boys

To examine the effects of human chorionic gonadotropin therapy on left ventricular mass index in boys with cryptorchidism. Cryptorchidism is the most frequent anomaly of male genitalia. Thirty consecutive cryptorchid boys (mean age 4.8 +/- 3.2 years, range 1-8 years) undergoing human chorionic gonadotropin (hCG) therapy and 30 healthy controls were enrolled in the study. The patient group received hCG by intramuscular injection twice weekly for 5 weeks. At the end of the therapy, echocardiographic measures were reevaluated. The results of left ventricular mass were indexed to body surface area before and after therapy. Our results showed that cryptorchid boys undergoing hCG therapy had significantly higher left ventricular mass index than healthy controls at the end of therapy (p < 0.001). Serum total testosterone levels significantly increased in the patient group and positively correlated with left ventricular mass index (r = 0.48, p = 0.021). We demonstrated that hCG treatment for cryptorchidism caused a significant increase in left ventricular mass due to high testosterone levels. We conclude that hCG therapy may not be safe for the cardiovascular system in boys with cryptorchidism.

The spectrum of cytogenetic changes in the colorectal polyps with different histologic structure

A cytogenetic study on colorectal polyps with different histological structures from 54 patients was carried out. Diploid karyotypes dominated in these polyps. Abnormal karyotypes were found in 17 (31.5%) polyps: the most frequent anomalies were in adenomas, in hamartomatous polyps they were absent. The typical features of the karyotypes were numeric changes, such as additional copies of chromosomes 13, 7, 20, 18 and 16 in some combinations. The polyps with high-grade dysplasia in all cases had abnormal karyotypes. One adenoma with dysplastic changes had specific chromosomal anomalies, such as additional copies of chromosomes 13, 18, and 20; this adenoma localized near adenocarcinoma. Unlike the previous studies of the mucous membrane of intestine from the patients suffering from ulcerative colitis and Cronh’s disease, we have studied the peculiarities of the karyotype exactly in inflammatory polyps, and found the chromosomal anomalies in 21.4% of cases.

Gain of 1q as a Potential Adverse Prognostic Marker in Myelodysplastic Syndrome: Comparison with International Prognostic Scoring System Variables

The gain of the 1q region, which is a recurrent chromosomal aberration in B lymphoproliferative disorder, has been reported one of the most common anomalies in Korean myelodysplastic patients. Recently, risk based application of hypomethylating agents or tailored therapy in MDS rely on the prognostic variables of International Prognostic Scoring System (IPSS). To investigate the possibility of 1q gain as a new prognostic marker, we evaluated the prognostic impact of 1q gain, along with comparison with IPSS variables. A total of 117 patients with newly diagnosed MDS between 1997 and 2007 at the Seoul National University Hospital were investigated. Fluorescence in situ hybridization (FISH) studies with 5 specific probe(EGR1 for 5q31 deletion, D7S522 for 7q31 deletion, CEP8, D20S108 for 20q12 deletion, LSI 1p36/1q25 for 1q gain) and conventional G-banding karyotyping were performed on bone marrow aspirates. Other laboratory findings, such as hemoglobin(Hb), absolute neutrophil count(ANC), platelet count, bone marrow blast percent and IPSS score, and clinical data were collected through the individual medical records. The median age was 54 years and the male-to-female ratio was 1.4. Using WHO classification, refractory anemia(RA) was 27.4% and the other subgroups as follows: RA with ringed sideroblast(RARS), 3.4%; refractory cytopenia with multilineage dysplasia(RCMD), 8.5%; RCMD with ringed sideroblasts(RCMD-RS), 0.9%; RA with excess blasts-1(RAEB-1), 26.5%; RAEB-2, 31.6%; and 5q- syndrome, 1.7%. Cytogenetic abnormalities by FISH and G-banding were detected in 58 patients (49.6%). Most frequent anomaly was trisomy 8 occuring in 28 patients(23.9% of the 117 patients, 48.3% of the 58 patients with clonal cytogenetic abnormalities). Gain of 1q was the second common anomalies seen in 18 patients (15.4%) and other anomalies were −7/del7q (13.7%), −5/del5q (13.7%), and del20q (2.6%). G-banding showed gain of 1q in 7 cases, additional 11 patients with gain of 1q were revealed by FISH only. Patients with 1q gain showed a poor survival (median survival 23 months; n=18) compared to patients without 1q gain (median survival 60 months; p=0.02). EGR1 and D7S522 deletion by FISH also had a shorter median survival (8 months vs. 60 months p=0.0001, 16 months vs. 60 months p=0.005). The initial platelet count and blast count were found to affect overall survival, whereas CEP8 FISH, D20S108 FISH, Hb and ANC did not. Our results show that gain of 1q is associated with an adverse clinical outcome and can be considered as a poor cytogenetic risk factor of IPSS. In the Western study, the prevalence of 1q gain was low because most studies report G-banding result only. But it may be increased up to 2.5 fold higher by using FISH analysis in combination with G-banding. A gain of 1q could be a candidate as an adverse prognostic marker in clinical practice, which could help for risk-adapted therapies. [Display omitted]

An Unusual Case of Postoperative Hypoxemia Diagnosed with Transesophageal Echocardiography

An Unusual Case of Postoperative Hypoxemia Diagnosed with Transesophageal Echocardiography