Frequency Of Anomalies Research Articles

Prevalence of Congenital Anomalies in Polyhydramnios: A hospital based study from Western Nepal

Introduction: Polyhydramnios is excessive amount of amniotic fluid in relation to gestational age. It is frequently associated with congenital anomalies of the fetus. The aim of this study was to see the prevalence of congenital anomalies in polyhydramnios.Methods: Singleton pregnant irrespective of gestational age with amniotic fluid index more than 25 were included in the study. Degree of polyhydramnios was graded as mild, moderate and severe. Detail study of fetus was done for possible congenital anomalies. Congenital anomalies were confirmed with post-natal findings.Results: There were 39 pregnant women with amniotic fluid index (AFI) > 25 cm. Prevalence of polyhydramnios was 0.3%. Congenital anomalies were present in 31.6 % of pregnant women with polyhydramnios. In pregnant women with severe polyhydramnios; 66.6 % had congenital anomalies. Central nervous system, gastrointestinal and skeletal anomalies were the frequent anomalies associated with polyhydramnios.Conclusion: Polyhydramnios is associated with increased risk of congenital anomalies hence a detail survey of fetus should be done for possible congenital anomalies.

Cluster analysis describes constellations of cardiac anomalies presenting in spinal anomaly patients.

Cardiac anomalies are prevalent in patients with bony spinal anomalies. Prior studies evaluating incidences of bony congenital anomalies of the spine are limited. The Kids' Inpatient Database (KID) yields national discharge estimates of rare pediatric conditions like congenital disorders. This study utilized cluster analysis to study patterns of concurrent vertebral anomalies, anal atresia, cardiac malformations, trachea-esophageal fistula, renal dysplasia, and limb anomalies (VACTERL anomalies) co-occurring in patients with spinal congenital anomalies. Retrospective review of KID 2003-2012. KID-supplied hospital- and year-adjusted weights allowed for incidence assessment of bony spinal anomalies and cardiac, gastrointestinal, urinary anomalies of VACTERL. K-means clustering assessed relationships between most frequent anomalies within bony spinal anomaly discharges; k set to n - 1(n = first incidence of significant drop/little gain in sum of square errors within clusters). There were 12,039,432 KID patients 0-20years. Incidence per 100,000 discharges: 2.5 congenital fusion of spine, 10.4 hemivertebra, 7.0 missing vertebra. The most common anomalies co-occurring with bony vertebral malformations were atrial septal defect (ASD 12.3%), large intestinal atresia (LIA 11.8%), and patent ductus arteriosus (PDA 10.4%). Top congenital cardiac anomalies in vertebral anomaly patients were ASD, PDA, and ventricular septal defect (VSD); all three anomalies co-occur at 6.6% rate in this vertebral anomaly population. Cluster analysis revealed that of bony anomaly discharges, 55.9% of those with PDA had ASD, 34.2% with VSD had PDA, 22.9% with LIA had ASD, 37.2% with ureter obstruction had LIA, and 35.5% with renal dysplasia had LIA. In vertebral anomaly patients, the most common co-occurring congenital anomalies were cardiac, renal, and gastrointestinal. Top congenital cardiac anomalies in vertebral anomaly patients were ASD, PDA, and VSD. VACTERL patients with vertebral anomalies commonly presented alongside cardiac and renal anomalies.

Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981–2015)

Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER).This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA). During the study period (1981–2015) the number of cases with ACC or HCC was 255, in a reference population of 1,023,784 live births, giving an overall prevalence of 2.49 per 10,000 (1.47 per 10,000 only live birth). After 1996, with the inclusion of TOPFA in IMER registry, the overall prevalence rate increase significantly from 1.42 to 3.03 cases per 10,000 birth (p-value<0.001). Prenatal diagnosis was made in 192 cases (75.3%), at a median gestational age of 20.7 [IQR: 19.71–22.71]. Termination of pregnancy occurred in 105 of the 255 cases (41,2%). Where a prenatal diagnosis was available, 55% of cases ended in TOPFA (105/192), with higher prevalence of cases associated to central nervous system malformations and multiple birth defects, and median gestational age at diagnosis significantly less than in live birth cases (20.3 vs 29 weeks). Agenesis/hypoplasia ratio was 5.7 (217/38). The most frequently associated malformations were musculoskeletal. Trisomies were the most frequent chromosomal anomalies, in particularly trisomy18 and 13 (respectively 9/32 and 4/32 cases). Our study showed an increased risk for male infants (RR of 1.68, RR 95% CI 1.19–2.37). No differences were detected analyzing maternal age and ethnicity, and the increased risk associated to preterm birth disappeared when compared with other malformed infants.This is one of the few population based studies dealing with prevalence of agenesis and hypoplasia of corpus callosum. Prevalence is still debated, but this study adds comprehensive data, in particular inclusion of TOPFA cases. Early prenatal diagnosis, not always possible, could be crucial for decision making regarding continuation of pregnancy.

Genetics of Nonsyndromic Craniosynostosis.

Occurring once in every 2000 live births, craniosynostosis is one of the most frequent congenital anomalies encountered by the craniofacial surgeon. Syndromic craniosynostoses account for approximately 15 percent of cases and demonstrate Mendelian patterns of inheritance with well-established genetic causes; however, nonsyndromic craniosynostoses, which account for approximately 85 percent of cases, are genetically heterogeneous and largely unexplored. Nonsyndromic craniosynostosis is sporadic in more than 95 percent of affected families; thus, surgeons have suggested for decades that nonsyndromic craniosynostosis is likely a fluke occurrence. Contrary to this, recent studies have established that genetics underlie a substantial fraction of nonsyndromic craniosynostosis risk. Given the predominantly sporadic occurrence of disease, parents are often bewildered by the primary occurrence of nonsyndromic craniosynostosis or even recurrence in their own families and request genetic testing. Existing genetic testing panels are useful when the phenotype strongly resembles a known syndrome, wherein the risk of disease recurrence can be accurately predicted for future offspring of the parents and the future offspring of the affected child. The diagnostic utility of existing panels for nonsyndromic craniosynostosis, however, is extremely low, and these tests are quite costly. Recent genetic studies have identified several novel genes and pathways that cause nonsyndromic craniosynostosis, providing genetic evidence linking the causes of syndromic and nonsyndromic craniosynostoses, and allowing for genotype-based prediction of risk of recurrence in some nonsyndromic families. Based on analysis of exome sequence data from 384 families, the authors provide recommendations for a new genetic testing protocol for children with nonsyndromic craniosynostosis, which include testing nonsyndromic cases of sagittal, metopic, and coronal craniosynostosis.

Early development of the human dentition revisited.

In this review, classical data on the early steps in human odontogenesis are summarized and updated with specific insights into the development of the upper and lower embryonic jaws to help in understanding some oral pathologies. The initial step of human odontogenesis is classically characterized by two parallel horseshoe‐shaped epithelial laminae. These originate from the oral epithelium and an ingrowth into the jaw mesenchyme: the internal dental lamina gives rise to deciduous tooth primordia, while the external vestibular lamina represents the developmental base of the oral vestibule. However, a more complex situation was revealed by recent studies combining analyses of the dental and adjacent oral epithelia on histological sections and computer‐aided three‐dimensional (3D) reconstructions during the 2nd month of human embryonic development. The dental epithelium forms a mound, where swellings appear later, corresponding to the individual primordia of deciduous teeth. External to the developing deciduous dentition, the 3D reconstructions do not show any continuous vestibular lamina but instead a complex of discontinuous epithelial bulges and ridges. The patterns of these epithelial structures and their relationship to the dental epithelium differ not only between the upper and lower jaws but also between the lip and cheek segments in each jaw. Knowledge of early odontogenesis may help in understanding some oral pathologies. For example, the human lateral incisor has a dual origin: it arises in the area of fusion between the medial nasal and maxillary facial processes and involves material from these two regions. Such a dual origin at the site of fusion of facial processes represents a predisposition to developmental vulnerability for the upper lateral incisor, resulting in its frequent anomalies (absence, hypoplasia, duplication), especially in patients with a cleft lip and/or jaw. Other pathologies, such as a minute supernumerary tooth, desmoplastic ameloblastoma or extraosseous odontogenic cysts are located external to the upper or lower dentition, and might be derived from structures that transiently appear during early development of the oral vestibule in humans.

Preoperative spectral-domain optical coherence tomography in patients having cataract surgery

To evaluate the role and cost-effectiveness of preoperative spectral-domain optical coherence tomography (SD-OCT) in patients having cataract surgery. Fondation Opthalmologique Adolphe de Rothschild, Paris, France. Retrospective case series. All patients who had cataract surgery had macular and retinal nerve fiber layer SD-OCT preoperatively. A complete ophthalmologic examination was performed, including corrected near (CNVA) and corrected distance visual acuities, intraocular pressure (IOP), and a fundus examination. The study comprised 245 patients (401 eyes) with amean age of 73.5years±9.81 and a mean IOP of 15.6±3.04mm Hg. Of 107 eyes (26.7%) with abnormal macular SD-OCT, 70 eyes were judged normal on fundus examination. The most frequent anomalies were age-related macular degeneration and epiretinal membrane. Age over 70years and CNVA worse than Parinaud 2 were associated with higher rate of abnormal macular SD-OCT (odds ratio, 2.76 and 2.28, respectively). Fifty-seven eyes (14.2%) had abnormal retinal nerve fiber layer SD-OCT, 30% of them with no history of glaucoma and no detected anomaly on fundus examination. Age over 70years and a history of glaucoma were associated with a higher rate of retinal nerve fiber layer anomalies. Preoperative SD-OCT scanning was significantly more effective in detecting anomalies in patients having cataract surgery than fundus examination. Older age and CNVA worse than Parinaud 2 were associated with higher rates of abnormal macular SD-OCT. Older age and a history of glaucoma were associated with higher abnormal retinal nerve fiber layer anomaly rates.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability. In one fetus and two patients, we identified three novel de novo mutations in ZBTB20, which was previously shown to be causal in Primrose syndrome. In addition to CCA, all cases presented with additional features of Primrose syndrome including facial dysmorphism and macrocephaly or megalencephaly. All three variations occurred within two out of the five zinc finger domains of the transcriptional repressor ZBTB20. Through homology modeling, these variants are predicted to result in local destabilization of each zinc finger domain suggesting subsequent abnormal repression of ZBTB20 target genes. Neurohistopathological analysis of the fetal case showed abnormal regionalization of the hippocampal formation as well as a reduced density of cortical upper layers where originate most callosal projections. Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA. Neurohistopathological findings in fetal case corroborate the observed key role of ZBTB20 during hippocampal and neocortical development. Finally, this study highlights the crucial role of ZBTB20 in CC development in human.

Successful Term Pregnancy with Placental Implantation on Uterine Septum: Case Report

Uterine septum is the most frequent (35-48%) structural uterine anomaly and associated with the poorest reproductive outcome. A 24 year old, nulliparous woman (G:1 P:0) applied to our clinic for routine first trimester pregnancy ultrasound. During the examination, it was recognized that most of the placenta was implanted on the uterine septum. There was no vascularity on uterine septum in doppler ultrasound. This is extremely rare case in literature showing placental implantation on uterine septum in the first trimester and reached term with successful pregnancy outcome. In conclusion, in contrast what is believed, pregnancy with placental implantation on complete uterine septum may progress successful.

Evolution of the Stabilis® Database: Creation of a Level of Evidence for Stability Studies

Abstract Background Stabilis® is an international database on stability and compatibility of drugs. The stability data comes mainly from publications of pharmaceutical journals. As the quality of the published stability studies is not equivalent, the objective of this work was to propose a level of evidence for the physico-chemical stability studies selected for the database. Methods At first, we evaluated the main pharmacological class consulted by the users. This work was then divided into 5 steps: (1) updating of the criteria to validate a stability study, (2) creating a grid rating articles, (3) rating of the articles of stability studies for anticancer, antifungal and antiviral drugs by 2 evaluators, (4) creation of new screens in the database to enter rating, to visualize the pictograms and commentaries by the users, (5) creation of a guideline to explain the different levels of evidence. Results The main pharmacological class consulted by Stabilis® users is the anticancer drugs and then antiinfectives. We have selected anticancer, antifungal and antiviral drugs for our study. Two hundred and forty publications were evaluated. The highest level attributed was A for anticancer and antifungal drugs and C for antiviral drugs. This difference can be explained by the fact that the majority of publications about antiviral drugs were older. The most frequent anomalies in the rating of articles were an incomplete or imperfect validation of the analytical method (high value of the coefficient of variation) and a defect in the evaluation of the stability indicating capacity. It must be noted that the level of evidence is not the quality level of the analytical method but the mixture of the quality of the method validation and of the results. This aspect was a choice of the Stabilis® team and seems important because the security of the patient is impacted by both aspects. Conclusions This new function contributes to help the Stabilis® users to evaluate the stability data published and to take a decision for their use in daily practice. This function will be progressively extended to other pharmacological classes of injectable drugs and then for non-injectable preparations.

Diagnosis and treatment of complicated Meckel’s diverticulum.

Meckel’s diverticulum (MD) is relatively rare, although frequent anomaly of the digestive tract, as a rule, in the event of complications or incidentally at laparotomy, laparoscopy, contrast study of the bowel. Aim - to examine the results of diagnosis and treatment of complicated forms of MD. Material and methods. It was a prospective non-randomized study of 77 patients with complicated forms of MD, including 30 adults and 47 children. The ratio of males and females in adult patients were 2,3:1, and 8,4:1 in children. The incidence of complicated forms in adults was 0,61 per 100,000 adult, 6,6 per 100,000 child population. The study was used clinical, laparotomy methods, ultrasound examination, CT, endoscopy, laparoscopy. Results. Diagnostic methods can identify complications (often diverticulitis, intestinal obstruction, peritonitis), and source-cause of complications is established by laparoscopy or laparotomy. Videolaparoscopic operations (diverticulectomy) made of 35%, the option of surgical intervention depended on the size of the diverticulum, the severity of degradation and prevalence of the inflammatory process in the wall ileum. Postoperative complications were 6,49% of patients, there were no cases mortality.

THE “PENDULUM LAW” - HOW TO EXPLAIN THE SPINAL SHAPE? PART I

ABSTRACT The author uses the classical parameters that allow studying the sagittal form of the spine, following a vertebral semantics (lordosis, kyphosis, spinopelvic parameters, and sagittal balance). Then he proposes a very different perspective that analyzes the shape of the column, not in the sagittal-coronal plane but in the vertical plane, that is, integrating gravity as a three-dimensional construction axis. Beginning with an analysis of the global body scheme of which the column is part, the muscular synergies are introduced using reference points, defining tension lines, anatomical and functional arches, highlighting the importance of the respiratory function that stabilizes the shape of the thoracolumbar spine. This shows that, whatever the pelvic or frequent anomalies, the biomechanical scheme depends on a single unique law related to gravity: the “pendulum law”. This allows us to define an ideal shaped spine, in comparison to different models, evoking the semantic practical and therapeutic interest of such a perspective.

Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa.

To accelerate the development of new therapies, an inherited retinal degeneration model in a nonhuman primate would be useful to confirm the efficacy in preclinical studies. In this study, we describe the discovery of retinitis pigmentosa in a cynomolgus monkey (Macaca fascicularis) pedigree. First, screening with fundus photography was performed on 1443 monkeys at the Tsukuba Primate Research Center. Ophthalmic examinations, such as indirect ophthalmoscopy, ERGs using RETeval, and optic coherent tomography (OCT) measurement, were then performed to confirm diagnosis. Retinal degeneration with cystoid macular edema was observed in both eyes of one 14-year-old female monkey. In her examinations, the full-field ERGs were nonrecordable and the outer layer of the retina in the parafoveal area was not visible on OCT imaging. Moreover, less frequent pigmentary retinal anomalies also were observed in her 3-year-old nephew. His full-field ERGs were almost nonrecordable and the outer layer was not visible in the peripheral retina. His father was her cousin (the son of her mother's older brother) and his mother was her younger half-sibling sister with a different father. The hereditary nature is highly probable (autosomal recessive inheritance suspected). However, whole-exome analysis performed identified no pathogenic mutations in these monkeys.

253: Concurrent anomalies in fetuses with congenital diaphragmatic hernia and the association with copy number variants

Among fetuses with congenital diaphragmatic hernia (CDH), the rates of concurrent anomalies and associated copy number variants (CNV) have not been well described. Our objective was to examine the rates of prenatally detected concurrent anomalies and associated CNVs among a diverse cohort of CDH cases. Retrospective cohort study of singleton prenatal CDH cases that were evaluated through one of the 5 University of California Fetal-Maternal Consortium (UCfC) sites (Davis, Irvine, Los Angeles, San Diego, San Francisco) from 2008 to 2016. Prenatally detected concurrent anomalies were categorized as cardiovascular (CV), central nervous system (CNS)/spinal, craniofacial, gastrointestinal (GI), genitourinary (GU), pulmonary, extremities, and hydrops. CNVs were categorized into 3 groups: normal, variant of uncertain significance (VUS), and pathogenic/likely pathogenic. Fisher’s exact and Chi square tests were used as appropriate to compare CMA findings by categories of associated anomalies. Logistic regression was utilized for multivariate analyses. 232 fetuses with CDH were identified; 168 (72.4%) were isolated, 64 (27.5%) had ≥1 concurrent anomaly, and 34 (14.7%) had ≥2 concurrent anomalies. Among those with additional anomalies, 35 (16.4%) were CV, 16 (6.9%) were CNS/spinal, 3 (1.3%) were craniofacial, 3 (1.3%) were GI, 14 (6.0%) were GU, 5 (2.2%) were pulmonary, 25 (10.8%) involved extremities and 8 (3.6%) had hydrops. Of the total cohort, 82 had a pre- or postnatal chromosomal microarray (CMA) performed. Of these, 63 (76.8%) were normal, 11 (13.4%) had a VUS, and 8 (9.8%) had a pathogenic or likely pathogenic CNV. Table 1 shows CMA findings by category of concurrent anomaly, comparing cases with 1 concurrent anomaly to those without. The only category significantly associated with pathogenic microarray results compared to fetuses with isolated CDH was CV anomalies (p = 0.02). Among fetuses with CDH, the most frequent concurrent anomaly was CV (16.4%), the least frequent was craniofacial (1.3%) and GI (1.3%). Cases with CV anomalies were significantly more likely, while cases with ≥2 concurrent anomalies were not significantly more likely to have pathogenic CNVs than those with isolated CDH. This information can be helpful in prenatal counseling of patients with a fetal CDH.

Sensitivity, specificity, and accuracy of left ventricular systolic function indices and structure in detecting early systolic dysfunction assessed by speckle-tracking two-dimensional strain: An echocardiographic cross-sectional study

Background: Reduced global longitudinal strain (GLS) is an early marker of subclinical left ventricular (LV) dysfunction, permitting timely interventions to slow disease progression. This technique is not widely available in echocardiographs in routine use. Aim: We sought to know if LV systolic function indices and structural left heart changes could predict a reduced GLS. Methods: We carried out a cross-sectional analytic study in May 2017. We measured GLS (reference test), LV ejection fraction, LV midwall shortening (MWS), LV mass index, LV diastolic diameter, LV volumes, and left atrial volume (predictors). We calculated the sensitivity, specificity, accuracy, predictive values, and likelihood ratios of the predictor variables. We assessed the discriminatory power of the indices with the Youden Index and area under the receiver operator characteristic curve (AUC). Results: A total of 32 participants (14 males) were retained for this study. Their mean (standard deviation) age was 62 (15.3) years. Eccentric LV hypertrophy (LVH) was the most frequent LV geometric pattern – 14 (43.8%) participants. A reduced GLS was the most frequent LV functional anomaly – 20 (62.5%) participants. A low MWS

Early 20&amp;lt;sup&amp;gt;th&amp;lt;/sup&amp;gt; Century Climate-Driven Shift in the Dynamics of Forest Tent Caterpillar Outbreaks

Using tree-ring analysis, we show that the dynamics of forest tent caterpillar [Malacosoma disstria (Hbn.)] outbreaks in Alberta, Canada shifted at the turn of the 20th century from cyclic, synchronous behaviour 1850-1910 to complex, asynchronous behavior 1910-1993. This shift in dynamics coincided with the emergence in 1910 of a latitudinal gradient in outbreak stability and periodicity reflecting a similar gradient in the periodicity of winter temperatures. We postulate that the synchronizing strength of winter temperatures has diminished as a result of climate warming, and that any synchronizing strength due to inter-population migration has been superseded by regionalized patterns of periodic forcing caused by weak low-frequency variability in winter temperatures. We speculate that a decrease in polar vorticity at the start of the 20th century led to increased meridional jet stream flow and more frequent arctic weather anomalies, resulting in a loss of synchronous decadal periodicity in outbreak occurrence. These changes in insect disturbance probabilities, including rising uncertainty, have profound consequences for forest disturbance risk management.

Characteristics and fertility of domestic cat epididymal spermatozoa cryopreserved with two different freezing media

The study represents a comparison of cryopreservation of domestic cat epididymal spermatozoa with two commercially available freezing media: CaniPlus Freeze (CPF) and SpermFreeze (SF). The viability of nonfrozen spermatozoa evaluated by the VitalScreen test was 68.7 ± 3.0%. These figures were lower for the frozen-thawed spermatozoa: 51.2 ± 6.3% for CPF group and 54.4 ± 3.1% for SF group. The motility of nonfrozen spermatozoa was 57.2 ± 4.5%. These figures were reduced in both frozen-thawed groups; however, there was no significant difference in these parameters between CPF (30.8 ± 7.1%) and SF (27.4 ± 8.1%) groups. The percentage of nonprogressively moving motile spermatozoa after freezing-thawing was decreased in both frozen-thawed groups (23.5 ± 5.9 and 12.0 ± 2.4 for CPF and SF frozen correspondingly) as compared with nonfrozen controls (42.1 ± 4.1%). Morphology of spermatozoa was assessed by light microscopy. The mean percentages of normal spermatozoa were 28.5 ± 4.1% for nonfrozen group, 26.0 ± 2.3% for CPF frozen group, and 23.9 ± 1.9% for SF frozen group. The most frequent anomalies in all the three groups were flagella and combined defects. In vitro fertilization (IVF) of domestic cat oocytes with nonfrozen and frozen-thawed spermatozoa produced developing embryos. The percentage of in-vitro-derived embryos was 43.6% after using nonfrozen spermatozoa. Frozen-thawed spermatozoa developed at a similar rate (44.0%) after using SF. However, the rate of embryo development was lower (20.1%) when CPF was used. The in-vitro-derived embryos in the nonfrozen group consisted of 46.9 ± 2.5 cells after 5-day culturing. After cryopreservation with SF and CPF the cell numbers per embryo were 39.9 ± 2.7 and 31.8 ± 3.4 correspondingly. In CPF group these numbers were lower than in nonfrozen controls. Cryopreservation of spermatozoa with either of two freezing media led to a decrease in post-thaw viability and motility of spermatozoa but did not affect the rate or spectrum of their morphological anomalies. The use of CPF, but not SF led to a decrease of sperm fertilizing abilities.

Intraperitoneal Third Müllerian Duct Mimicking a Hydrosalpinx: Laparoscopic Diagnosis and Treatment

Abstract Background: The most frequent congenital anomalies of the genital tract in women are caused by irregular development of the Mullerian ducts. At present, known Mullerian anomalies include a...

Anatomical variations of the sternal angle and anomalies of adult human sterna from the Galloway osteological collection at Makerere University Anatomy Department.

Anatomical variations of the sternal angle and anomalies of the sternum are unique happenings of major clinical significance. It is known that misplaced sternal angles may lead to inaccurate counting of ribs and create challenges with intercostal nerve blocks and needle thoracostomies. Sternal foramina may pose a great hazard during sternal puncture, due to inadvertent cardiac or great vessel injury. These sternal variations and anomalies are rarely reported among Africans. The aim of this study was to determine the anatomical variations of the sternal angle and anomalies of the sternum among adult dry human sterna at the Galloway osteological collection, Makerere University, Uganda. This was a descriptive cross sectional study in which quantitative and qualitative data were collected. The study examined 85 adult human sterna at the Department of Anatomy, Makerere University. Univariate and bivariate analyses were done using SPSS 21.0 for Windows. Over 40% (36/85) of the specimens had variations in size, location and fusion of the sternal angle. There was no significant difference in the mean size of the sternal angle in males at 163.4 ± 6.7o compared with 165.0 ± 6.4o in females (p = 0.481). Of the 85 specimens examined, only 21 (24.7%) had a xiphoid process. The most frequent sternal anomalies were bifid xiphoid process 42.9% (9/21) and sternal foramen 12.9% (11/85). Sternal variations and anomalies are prevalent in the Galloway osteological collection and there is need for increased awareness of these findings as they may determine the accuracy of clinical and other procedures in the thoracic region.

A metabolomics-based approach for non-invasive diagnosis of chromosomal anomalies

Chromosomal anomalies (CA) are the most frequent fetal anomalies. To evaluate the diagnostic performance of a machine learning ensemble model based on the maternal serum metabolomic fingerprint of fetal aneuploidies during the second trimester . This is a case-control pilot study. Metabolomic profiles have been obtained on serum of 328 mothers (220 controls and 108 cases), using gas chromatography coupled to mass spectrometry. Eight machines learning and classification models were built and optimized. An ensemble model was built using a voting scheme. All samples were randomly divided into two sets. One was used as training set, the other one for diagnostic performance assessment. Ensemble machine learning model correctly classified all cases and controls. The accuracy was the same for trisomy 21 and 18; also, the other CA were correctly detected. Elaidic, stearic, linolenic, myristic, benzoic, citric and glyceric acid, mannose, 2-hydroxy butyrate, phenylalanine, proline, alanine and 3-methyl histidine were selected as the most relevant metabolites in class separation. The proposed model, based on the maternal serum metabolomic fingerprint of fetal aneuploidies during the second trimester, correctly identifies all the cases of chromosomal abnormalities. Overall, this preliminary analysis appeared suggestive of a metabolic environment conductive to increased oxidative stress and a disturbance in the fetal central nervous system development. Maternal serum metabolomics can be a promising tool in the screening of chromosomal defects. Moreover, metabolomics allows to extend our knowledge about biochemical alterations caused by aneuploidies and responsible for the observed phenotypes.

General Survey of Construction-Related Complaints in Recent Buildings in Spain

In Spain the construction sector and specifically the building area, is one of the sectors with the greatest number of complaints coming from the users and clients. Sometimes these complaints are important enough to be taken to court. This study, the first of its kind in the literature, is based on the final rulings of these court cases (involving 1166 buildings) to analyze quantitatively and qualitatively the anomalies, their causes and elements in which they occur. The results show the construction zones with the greatest damage and the most frequent anomalies, which will facilitate all intervening actors in the building process access to the knowledge about the anomalies-prone zones and their future prevention. The most frequent pathological processes, their climatic zone distribution and a prediction tool in function of population are also included in the presentation. Some design and execution procedures are proposed to solve the problems detected.