Unbalanced Form Research Articles

Control strategies for inverted pendulum: A comparative analysis of linear, nonlinear, and artificial intelligence approaches.

An inverted pendulum is a challenging underactuated system characterized by nonlinear behavior. Defining an effective control strategy for such a system is challenging. This paper presents an overview of the IP control system augmented by a comparative analysis of multiple control strategies. Linear techniques such as linear quadratic regulators (LQR) and progressing to nonlinear methods such as Sliding Mode Control (SMC) and back-stepping (BS), as well as artificial intelligence (AI) methods such as Fuzzy Logic Controllers (FLC) and SMC based Neural Networks (SMCNN). These strategies are studied and analyzed based on multiple parameters. Nonlinear techniques and AI-based approaches play key roles in mitigating IP nonlinearity and stabilizing its unbalanced form. The aforementioned algorithms are simulated and compared by conducting a comprehensive literature study. The results demonstrate that the SMCNN controller outperforms the LQR, SMC, FLC, and BS in terms of settling time, overshoot, and steady-state error. Furthermore, SMCNN exhibit superior performance for IP systems, albeit with a complexity trade-off compared to other techniques. This comparative analysis sheds light on the complexity involved in controlling the IP while also providing insights into the optimal performance achieved by the SMCNN controller and the potential of neural network for inverted pendulum stabilization.

Mitotic recombinatory evolution in acute leukemia

A cohort of leukemia cases is presented with ancillary testing that includes microarray studies, karyotyping, FISH, and RNA sequencing to illustrate clonal evolution. Common evolution etiology with each case is apparent homologous mitotic recombination (HMR). The cohort includes: four cases of Pre B-cell acute lymphoblastic leukemia (B-ALL) with a single translocation derivative (19)t(1;19)(q23.3;p13.3), an acute myelogenous leukemia (AML) case with a paracentric inversion of 11q13.3q23 in both homologues confirmed as a rare KMT2A-MAML2 gene fusion, and a transplant patient in AML relapse with a t(6;11)(6q27;q23) and evolution to an additional derivative 6 chromosome. The PBX1-TCF3 fusion in the t(1;19) B-ALL subgroup has long been associated with clones that show either the balanced translocation (∼25%) or the unbalanced single derivative 19 (∼75%). Evidence from the CMAs and FISH is consistent with HMR initiating at either the PBX1 translocation breakpoint or at a more proximal long arm site that mediates the evolution to the unbalanced form. This is contrary to the previous assumptions of either nondisjunction duplication of the normal homologue with loss of the translocation derivative 1 or an original trisomy 1 that loses the translocation derivative 1. Relapse from an unrelated transplant donor created unique allele dosage ratios in the microarray of the AML patient with the t(6;11) KMT2A-AFDN fusion. An HMR-based evolution initiation site proximal to the 6q27 AFDN fusion gene is evident in the microarray of chromosome 6, the known oncogenic fusion derivative. The HMR selection driver in both AML cases is very likely associated with the DNA doubling of the oncogenic fusions in 6q and 11q, respectively. Since the oncogenic derivatives in the 1;19 cases are clearly the retained derivative 19, selection for the HMR clonal evolution in 1q is apparently based on the known proliferative advantage of extra copies of 1q in B-ALL and other malignancies. Although selection-based HMR can effectively initiate at any site proximal to a driver gene fusion, it appears that the translocation breaksite is common for many translocations. In addition, evidence from HMR evolution related distal 11q mutations, numerous unbalanced CCND1/IGH translocations, and the double MAML2/KMT2A presented in this study suggest that a recombinatorial "hot spot" exists near the CCND1 gene in many rearrangements or mutations within 11q.

Obsessive-Compulsive disorder is a severe threat to society

To give an overview of Obsessive-Compulsive Disorder (OCD). In this review, the vital information about OCD and the possibility of linking suicide through this mental issue, getting to provide references for cover. OCD is a chronicle real unbalanced form of mental disorder that leads to an unreasonable configuration of obsession and compulsion. Obsessive-compulsive disorder (OCD) is usually believed to follow a persistent, repetitive course. The onset of illness has a bimodal peak – in early adolescence and adulthood. Obsessions are the elevation of thoughts and feelings irrespective of common or genuine sentiments, infuriating and repetitive effects on mental beings. Compulsion is a short part tempo result after the obsession to repeat a particular activity. This anomalous situation helps us understand that it turns out to be critical and last for a short period; it gets back as before when done. Obsessive-compulsive Disorder (OCD) is a psycho-neurological issue that sets out to be impulsive and cause distress and uneasiness in a person's life. OCD has the potential to trigger suicide. An obsessive-compulsive disorder is outlined by the two proximity of continuous impulse and compulsions, and recent studies have also identified neuroimaging and neuropsychological correlations of a natural outcome, but these need further replication. After a comprehensive study, the evidence provided in this article presents that OCD may be a grueling mental issue and a significant threat to society. Keywords. OCD; Obsession; Compulsion; Neuropsychiatric; Treatment; Survey.

Results of Hemodynamic Correction in Patients with Double Outlet Right Ventricle

Aim. To analyze results of hemodynamic correction in surgical treatment of double outlet right ventricle (DORV).
 Маterials and methods. For the period from January 1996 to September 2017, 31 (6.03 % of total number of patients with DORV) patients underwent hemodynamic correction of DORV. The age of the patients ranged from 1 to 19 years (71.2 ± 50.5 months on the average). The weight of the patients ranged from 9 to 41 kg (19.6 ± 11.3 kg on the average). Of these, 19 (61.3 %) were male patients and 12 (38.7 %) were female patients. The overwhelming majority (25 (80.6 %)) of the patients were diagnosed with transposition-type DORV. The anatomy of DORV with non-committed ventricular septal defect was observed in 5 (16.1 %) patients. In one patient (3.1 %), the anatomy of DORV (in the form of tetralogy of Fallot) was combined with tricuspid valve atresia.
 Results. The main reasons of hemodynamic correction in 16 (51.6 %) cases was LV hypoplasia. In 2 cases it was combined with tricuspid valve (TV) straddling, and in 2 cases it was an integral part of the unbalanced form of complete atrio-ventricular communication (AVC). In one case (3.1 %), the unbalanced form of complete AVC was combined with a mixed form of the common ventricle. The mixed form of the common ventricle was the reason of hemodynamic correction in 9 (29 %) patients. In 2 (6.2 %) cases, hemodynamic correction was performed due to the anatomy of the RV hypoplasia. In the remaining 2 patients, anatomy of the common ventricle was not diagnosed, but a combination of other concomitant defects was a contraindication to biventricular correction. Palliative operations (Blalock-Taussig shunt, BTS) as the first stage of correction were performed in 16 (51.6 %) patients. In 2 patients with LV outflow tract obstruction, systemic-pulmonary anastomosis was applied in combination with plastic repair of the great vessel roots using the proprietary technique for elimination of the left ventricular outflow tract (LVOT) stenosis. Bidirectional cavopulmonary anastomosis (BCPA) was applied in 29 (93.5 %) cases. Of these, 4 (13.8 %) patients subsequently underwent total cavopulmonary anastomosis (TCPA) procedure. Two patients with good hemodynamic parameters underwent TCPA without prior palliative procedures.
 Conclusion. Palliative surgery as the first stage to hemodynamic correction is accompanied by significant improvement in hemodynamic parameters of patients. Application of BCPA as the second stage of hemodynamic correction provides good results and is required to prepare the patient for TCPA. The long-term period is characterized by improvement in the quality of life in patients with complex DORV. In the long-term period, 85.2 % of patients are classified as NYHA FC I.

Defining the limits of detection for chromosome rearrangements in the preimplantation embryo using next generation sequencing

Is next generation sequencing (NGS) capable of detecting smaller sub-chromosomal rearrangements in human embryos than the manufacturer's quoted resolution suggests? NGS was able to detect unbalanced chromosome segments smaller than the manufacturer's resolution. Array Comparative Genomic Hybridization (array-CGH) has been the gold standard platform used for PGD of chromosome rearrangements. NGS is a viable alternative to array-CGH for PGD of chromosome arrangements given that the manufacturer's guidelines quote a resolution of ≥20 Mb. However, as many patients carry a chromosome rearrangement <20 Mb, the detection limits of NGS warrant further investigation. This study involved a retrospective assessment of stored DNA samples from embryos that had previously been diagnosed as unbalanced by array-CGH as part of routine PGD in two separate IVF clinics between November 2013 and April 2017. SurePlex whole genome amplification (WGA) products derived from DNA extracted from an embryo biopsy sample known to carry an unbalanced form of a chromosome rearrangement were subjected to a specific NGS workflow (VeriSeq PGS). The results from the two technologies were compared for each sample. WGA products from 200 embryos known to carry unbalanced rearrangements were sequenced and analysed. These embryos had been created by 75 patients known to carry a chromosome rearrangement (68 reciprocal translocations, 3 pericentric inversions, 1 paracentric inversion, 2 insertions and 1 dual reciprocal and inversion). Each sample was assessed for the size of the segmental gain/loss (Mb), copy number for each segment and chromosome, segregation pattern, the number of bins in the analysis software used and concordance with array-CGH results. A total of 294 unbalanced chromosome segments were assessed. NGS was capable of detecting 285/294 (97%) unbalanced segments previously identified using array-CGH. The final PGD diagnosis was concordant for 200/200 (100%) embryos. In total, 44/75 (59%) patients contained an unbalanced chromosome segment below the quoted 20 Mb manufacturer's stated resolution. Of these, 35/44 (80%) patients had segments that were able to be detected using NGS, whilst maintaining clinical outcome concordance. Our study subset did not include any rearrangements involving the Y chromosome. NGS has less available bins per chromosome compared to the array-CGH platform used, thus it remains possible that chromosome rearrangements predicted to be small but still detectable by array-CGH may not be feasible for testing using NGS. This should be considered when undertaking a theoretical feasibility assessment for detecting the chromosome rearrangement in question. Only one specific workflow for WGA and NGS was investigated in this study. This study has shown that NGS is available for the detection of unbalanced chromosome rearrangements ≥10 Mb. Part sponsorship of the VeriSeq PGS kits used was provided by Illumina. The remainder of the kits were provided by two commercial IVF clinics. None of the authors has any conflicting interests to declare. N/A.

54. Utilizing clinical whole genome sequencing to identify balanced translocation carriers in the parents of children with derivative chromosomes

Rare and undiagnosed genetic disease (RUGD) represents a major source of disease burden in the pediatric populations. Among RUGD patients with a chromosomal abnormality, the exact etiology may be traced to parents who are carriers of balanced translocations. It is estimated that 1/500 people in the general population are carriers of balanced translocations, which poses a risk of an unbalanced form passed to their offspring. Few translocations are common, therefore, the derivative chromosome, and associated phenotype, are often specific to the individual. Chromosomal microarrays have a high sensitivity for derivative chromosomes and are often used in this population, yet often need to be paired with chromosome studies performed in the parents to identify the parent of origin.

Quantum multiparameter estimation with generalized balanced multimode NOON-like states

The simultaneous multi-parameter estimation problem using a class of multi-mode entangled states is investigated in this paper. Specifically, the problem of optical phase imaging is considered and the quantum probe is taken to be a balanced coherent superposition of components with an arbitrary quantum state in one mode and vacuum states in all the other modes, which is a generalization of the multi-mode NOON state. The analytical form for the quantum Cramer-Rao bound (QCRB) is presented, which shows the performance by providing a lower bound of the estimation uncertainty. It is shown that the NOON state has the worst performance among those in the class of the entangled states considered. We also analyze in detail four different scenarios, which are the NOON state, the entangled coherent state, the entangled squeezed coherent state, and the entangled squeezed vacuum state. From the comparison among these four states, we find that when the mean photon number is fixed, the squeezed vacuum state has the smallest QCRB, followed by the squeezed coherent state, entangled coherent state, and NOON state. We also illustrate that the balanced entangled state can perform better than a more generalized unbalanced form studied in previous works for certain scenarios. Finally, we give an experimental setup for producing a two-mode entangled state that can beat the NOON state in quantum metrology.

Utilization of Mate-Pair Sequencing to Characterize Complex and Novel TCF3 Translocations

Rearrangements involving TCF3 (E2A) at 19p13.3 are a common cytogenetic abnormality in B-lymphoblastic leukemia/lymphoma (B-LL) across all age groups accounting for at least 5% of B-LL. The most common translocation partner, PBX1 at 1q23, is associated with an unbalanced der(19) or a balanced t(1;19) in 80% vs. 20% patients, respectively, and results in a PBX1/TCF3 fusion transcriptional activator. Several other rearrangement partners have been described, and as such TCF3 is approaching the dubious status of a "promiscuous" gene partner. Clinically, our laboratory uses a dual-color, dual fusion PBX1/TCF3 FISH probe to characterize the most common gene fusion; however, this FISH strategy also allows for the identification of atypical disruptions of the TCF3 gene region, and may suggest a gene partner based on abnormal metaphases/metaphase-FISH.Interrogation of our pediatric leukemia database (ages 0-30) identified 219 patients with abnormal TCF3 FISH results. We selected 23 samples for mate-pair evaluation to test the methodology, characterize novel rearrangements and identify new TCF3 fusion partners. In total, 19 patient samples were successfully sequenced by Mate-Pair, including 13 samples with variants of the 1;19 translocation. Of the samples with TCF3/PBX1 fusion, 3 patients demonstrated novel insertional translocation events characterized by mate-pair. A total of 6 samples with undefined/unknown TCF3 partner genes were evaluated. The mate-pair results identified 5 samples with a t(12;19)(p13.31;p13.3), resulting in TCF3/ZNF384 fusion. Interestingly, two of the ZNF384 rearrangements were observed in the unbalanced form, suggesting a similar mechanism related to the der(19)t(1;19) regularly observed in the common PBX1-TCF3 rearrangement. From a karyotype perspective, since these rearrangements result in only a small portion of chromosome 12p translocated onto distal 19p, this rearrangement would "cryptic" by conventional karyotyping. One patient sample demonstrated a new TCF3 gene fusion partner (TEF), associated with a t(19;22)(p13.3;q13.2).Overall, our results demonstrate the utility of mate-pair evaluation as an adjunct methodology in the identification of novel TCF3 rearrangements in B-LL. We have successfully expanded the application of mate-pair to characterize other novel/cryptic abnormalities in various hematologic and oncologic neoplasms encountered in our laboratory. DisclosuresNo relevant conflicts of interest to declare.

Mâcher des poèmes, croquer des statues. Les faims formelles de Victor Segalen et Claude Lévi-Strauss

Claude Lévi-Strauss and Victor Segalen share the same obsession, that of the loss of knowledge, established by the law of thermodynamics as a universal constant. In fact, the journeys they undertake are each based on a quasi-immediate transcription, as a defence mechanism against entropy. In Équipée and Tristes tropiques, the two writers pace their walks with poetry. While Segalen memorises them and draws the formless to allow memories to survive, Lévi-Strauss invents them and draws them in order to exorcise unbalanced form.

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother.

Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11;22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47, XY, +der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46, XX, t(11;22) (q23.3; q11.2).

A germline chromothripsis event stably segregating in 11 individuals through three generations

Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage sensitive genes. We describe a G-CTH transmitted through three generations in 11 healthy carriers. Conventional cytogenetic analysis, mate-pair sequencing, and polymerase chain reaction (PCR) were used to identify the chromosome rearrangement and characterize the breakpoints in all three generations. We identified an apparently balanced translocation t(3;5), later shown to be a G-CTH, in all individuals of a three-generation family. The G-CTH stably segregated without occurrence of additional rearrangements; however, several spontaneous abortions were reported, possibly due to unbalanced transmission. Although seven protein-coding genes are interrupted, no clinical features can be definitively attributed to the affected genes. However, it can be speculated that truncation of one of these genes, encoding ataxia-telangiectasia and Rad3-related protein kinase (ATR), a key component of the DNA damage response, may be related to G-CTH formation. G-CTH rearrangements are not always associated with abnormal phenotypes and may be misinterpreted as balanced two-way translocations, suggesting that G-CTH is an underdiagnosed phenomenon.Genet Med 18 5, 494-500.

A (1;19) translocation involving TCF3-PBX1 fusion within the context of a hyperdiploid karyotype in adult B-ALL: a case report and review of the literature.

BackgroundThe t(1;19)(q23;p13), which can result in the TCF3-PBX1 chimeric gene, is one of the most frequent translocations in B-acute lymphoblastic leukemia (B-ALL) and is observed in both adult and pediatric populations at an overall frequency of 6%. It can occur in a balanced or unbalanced form and as a sole abnormality is associated with an intermediate prognosis. Additionally, this translocation is observed in the context of hyperdiploid B-ALL, in which case it is associated with a poor prognosis. However, due to different translocation partner genes at chromosomes 1 and 19, distinct subtypes of hyperdiploid B-ALL with t(1;19)/der(19)t(1;19) are recognized based on the presence or absence of the TCF3-PBX1 fusion gene, but the cytogenetic and etiologic differences between the two remain understudied.FindingsWe report a case of an adult with a history of relapsed precursor B-ALL whose conventional cytogenetics showed an abnormal female karyotype with both hyperdiploidy and a t(1;19)(q23;p13). Fluorescence in situ hybridization (FISH) on previously G-banded metaphases using the LSI TCF3/PBX1 Dual Color, Dual Fusion Translocation Probe confirmed the presence of the TCF3-PBX1 gene fusion.ConclusionsThis particular pattern with a TCF3-PBX1 fusion within the context of a hyperdiploid karyotype is seen in B-ALL and is usually associated with a poor outcome. This case is one of only a few cases with both hyperdiploidy and a confirmed TCF3-PBX1 fusion, demonstrating the importance of using FISH for proper molecular classification of these cases in order to distinguish them from those with hyperdiploidy but no TCF3-PBX1 fusion gene. Such molecular studies may provide insight into the precise differences between TCF3-PBX1 positive and negative hyperdiploid B-ALL bearing the t(1;19)(q23;p13).

Exceptional complex chromosomal rearrangements in three generations.

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband's mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband's mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother's and grandmother's CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12.

Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman's partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12)(q34;q24,32). Partner's brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril), and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648)x1,12q24.32q24.33(127,708,720-133,777,560)x3, karyotype (der (7) t(7;12) (q34;q24)pat). This unbalanced translocation was due to the segregation of the father's balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals' phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.

Constitutional t(11;22)(q23;q11) is the most frequent recurrent non-Robertsonian translocation in humans. Balanced carriers of t(11;22) usually manifest no clinical symptoms, and are often identified after the birth of offspring with an unbalanced form of this translocation, known as Emanuel syndrome. To determine the prevalence of the disorder, we sent surveillance questionnaires to 735 core hospitals in Japan. The observed number of Emanuel syndrome cases was 36 and that of t(11;22) balanced translocation carriers, 40. On the basis of the de novo t(11;22) translocation frequency in sperm from healthy men, we calculated the frequency of the translocations in the general population. Accordingly, the prevalence of Emanuel syndrome was estimated at 1 in 110,000. Based on this calculation, the estimated number of Emanuel syndrome cases in Japan is 1063 and of t(11;22) balanced translocation carriers, 16,604, which are much higher than the numbers calculated from the questionnaire responses. It is possible that this discordance is partly attributable to a lack of disease identification. Further efforts should be made to increase the awareness of Emanuel syndrome to ensure a better quality of life for affected patients and their families.

Strategic Coupling and Regional Development in Resource Economies: the case of the Pilbara

ABSTRACTThe relationship between regions and external capital has been a topic of recurring interest in economic geography and regional development studies since the 1970s. This relationship has recently been re-conceptualised in terms of strategic coupling, a concept that is closely associated with the adoption of a Global Production Networks (GPNs) approach among economic geographers. Like many other concepts in economic geography, strategic coupling has been informed by the experiences of manufacturing and service-orientated regions in developed countries. As such, the question of the applicability of strategic coupling to resource economies in semi-peripheral regions of the world economy remains unexamined, despite the emergence of critical work seeking to unpack and evaluate the concept. This paper aims to extend this embryonic strand of research by providing a critical appraisal of the meaning and relevance of strategic coupling in the Pilbara mining region of Western Australia. My argument is that the relationship between mining capital and regional actors in the Pilbara is more akin to an unbalanced form of structural coupling than the balanced process of strategic coupling depicted in the GPN literature. This underlines the enduring relevance of some long-standing themes of geographical political economy such as external domination, uneven development, conflicts over value and the distinction between development ‘of’ a region and development ‘in’ a region.

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21 of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were ~twice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an ~50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.

Controllable-structure semi-ballistic reentry vehicle tracking with hybrid-level multiple-model estimation

Tracking of a high manoeuvring reentry vehicle has become a key problem in interception. The vehicle is characterised by a lift force generated by the vehicle’s unbalanced structure or form, and the controllable structure and form complicate the vehicle’s manoeuvre. Therefore, the paper deals the vehicle with the lift-drag ratio model; characteristic of the vehicle’s uncertain mode is analysed, and the multiple-model estimator is constructed on the representative mode. To have a stable estimator, we proposed the hybrid-level multiple-model estimator that is consistent with the manoeuvring vehicle’s uncertain mode. The key parameter of the vehicle’s model is refined to decrease the mismatch of the set of models and the true mode. The effectiveness of the proposed algorithm is checked by numerical simulation.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder characterized by a complex dysgenesis of the eyelids and premature ovarian insufficiency. FOXL2 located at 3q22.3, encoding a forkhead transcription factor, is the only gene known to be responsible for BPES. We describe a patient diagnosed with BPES with atypical ovarian failure, characterized by normal levels of gonadotropins, who was found to have trisomy X as well as a translocation (3;11)(q22.3;q14.1). The translocation breakpoint at 3q22.3 is located upstream of the FOXL2 gene and most likely causes BPES by separating the FOXL2 transcription unit from its cis-regulatory sequences. By array analysis we detected mosaicism for the balanced and an unbalanced form of the translocation in blood cells. We propose mitotic recombination as the likely mechanism of the mosaicism formation. Mitotic recombination is a common phenomenon in human cells. Thus, we hypothesize that it may be one of the mechanisms responsible for cryptic imbalances and possible abnormal phenotypes in some carriers of balanced rearrangements.

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an unbalanced form of the translocation 46, X, der(X), t(X;18)(q22.3;q23). The brother of the proband was investigated and was found to possess the balanced form of the same translocation, resulting in disrupted spermatogenesis. Maternal investigation revealed the progenitor karyotype 46, X, t(X;18)(q22.3;q23). Maternal inheritance and various genomic events contributed to the resultant genotypes. Primary infertility was initially diagnosed in all progeny; however, the male individual recently fathered twins. We briefly review the mechanisms associated with X;18 translocations and describe a pattern of inheritance, where breakpoints and translocation of the Xq22.3;18q23 regions have resulted in variable fertility.