The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum

2017 ◽  
Vol 38 (06) ◽  
pp. 626-632 ◽  
Author(s):  
Anna Rüland ◽  
Karl-Philipp Gloning ◽  
Matthias Albig ◽  
Karl-Oliver Kagan ◽  
Rüdiger Hammer ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Chromosomal Aberrations ◽  
Umbilical Artery ◽  
Array Cgh ◽  
Copy Number Variant ◽  
Trisomy 8 ◽  
Ultrasound Evaluation ◽  
Group A ◽  
Mosaic Trisomy

Abstract Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Results Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6 %) were isolated, with 16 fetuses showing additional minor findings. In 76.2 % (109/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7 % (11/143). Chromosomal aberrations were found in 4.6 % (5/109) overall, in 3.1 % (3/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2 % (2/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9 % (1/11). Conclusion Fetal karyotyping is recommended in ACC, as trisomy 8 mosaicism should be considered despite otherwise unremarkable ultrasound. The role of novel techniques such as array CGH and its implication has to be explored in prospective studies.

scholarly journals Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

2020 ◽  
Vol 59 (1) ◽  
pp. 127-129 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chin-Yuan Hsu ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Trisomy 8 ◽  
Mosaic Trisomy

Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

2021 ◽  
Author(s):  
Mateus A. de Souza ◽  
Jéssica K. Hartmann ◽  
Laira F. F. Zottis ◽  
Thiago K. K. Gama ◽  
Ernani B. da Rosa ◽  
...  
Keyword(s):  
Ventilatory Support ◽  
Common Finding ◽  
Trisomy 8 ◽  
Respiratory Dysfunction ◽  
Syncytial Virus ◽  
Tomography Scan ◽  
Clinical Worsening ◽  
Mosaic Trisomy ◽  
Rule Out

AbstractMosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory support. Respiratory syncytial virus test was positive. Naso fibrobronchoscopy showed moderate laryngotracheomalacia. He also had recurrent episodes of pneumonia and difficulty in withdrawing continuous positive airway pressure. The patient also presented leucoma, abnormal and low-set ears, pectus excavatum, clenched fists with overlapping fingers, cryptorchidism, clubfeet, and deep longitudinal plantar creases. G-bands by Trypsin using giemsa (GTG-banding) karyotype from a peripheral blood sample revealed a mosaic trisomy 8: mos 47,XY, + 8[15]/46,XY[7]. At 4 months, the patient developed respiratory failure, and a chest computed tomography scan showed areas of atelectasis and gross fibroatelectatic striae. He ended up presenting clinical worsening and died at 4 months and 8 days. In our literature review, we found some reports describing patients with mosaic trisomy 8 and laryngotracheomalacia. However, we cannot rule out the possibility that this association could be casual, since laryngotracheomalacia is a relatively common finding in children. Therefore, more studies are still necessary to understand the possible relation between both conditions and the role of laryngotracheomalacia over morbidity and prognosis of mosaic trisomy 8 patients.

Etiology, clinical presentation, laboratory diagnostics, pathogenesis of impetigo and treatment methods

2020 ◽  
pp. 64-70
Author(s):  
Anastasiya Laknitskaya
Keyword(s):  
Streptococcus Pyogenes ◽  
Skin Diseases ◽  
Group A Streptococcus ◽  
Antibiotic Sensitivity ◽  
Antioxidant Defense System ◽  
Laboratory Diagnostics ◽  
Treatment Methods ◽  
Group A ◽  
The Individual

Currently, one of the priority medical and social problems is the optimization of treatment methods for pyoderma associated with Streptococcus pyogenes — group A streptococcus (GAS). To date, the proportion of pyoderma, the etiological factor of which is Streptococcus pyogenes, is about 6 % of all skin diseases and is in the range from 17.9 to 43.9 % of all dermatoses. Role of the bacterial factor in the development of streptococcal pyoderma is obvious. Traditional treatment complex includes antibacterial drugs selected individually, taking into account the antibiotic sensitivity of pathognomonic bacteria, and it is not always effective. Currently implemented immunocorrection methods often do not take into account specific immunological features of the disease, the individual, and the fact that the skin performs the function of not only a mechanical barrier, but it is also an immunocompetent organ. Such an approach makes it necessary to conduct additional studies clarifying the role of factors of innate and adaptive immunity, intercellular mediators and antioxidant defense system, that allow to optimize the treatment of this pathology.

scholarly journals CD206+ macrophage is an accelerator of endometriotic-like lesion via promoting angiogenesis in the endometriosis mouse model

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yosuke Ono ◽  
Osamu Yoshino ◽  
Takehiro Hiraoka ◽  
Erina Sato ◽  
Akiko Furue ◽  
...  
Keyword(s):  
Mouse Model ◽  
Diphtheria Toxin ◽  
Immunohistochemical Study ◽  
Mrna Levels ◽  
Cytokines And Chemokines ◽  
Diphtheria Toxin Receptor ◽  
Endothelial Cell Marker ◽  
Toxin Receptor ◽  
Group A

AbstractIn endometriosis, M2 MΦs are dominant in endometriotic lesions, but the actual role of M2 MΦ is unclear. CD206 positive (+) MΦ is classified in one of M2 type MΦs and are known to produce cytokines and chemokines. In the present study, we used CD206 diphtheria toxin receptor mice, which enable to deplete CD206+ cells with diphtheria toxin (DT) in an endometriosis mouse model. The depletion of CD206+ MΦ decreased the total weight of endometriotic-like lesions significantly (p < 0.05). In the endometriotic-like lesions in the DT group, a lower proliferation of endometriotic cells and the decrease of angiogenesis were observed. In the lesions, the mRNA levels of VEGFA and TGFβ1, angiogenic factors, in the DT group significantly decreased to approximately 50% and 30% of control, respectively. Immunohistochemical study revealed the expressions of VEGFA and an endothelial cell marker CD31 in lesions of the DT group, were dim compared to those in control. Also, the number of TGFβ1 expressing MΦ was significantly reduced compared to control. These data suggest that CD206+ MΦ promotes the formation of endometriotic-like lesions by inducing angiogenesis around the lesions.

Tissue Ki67 proliferative index expression and pathological changes in hemodialysis arteriovenous fistulae: Preliminary single-center results

2021 ◽  
pp. 112972982110154
Author(s):  
Raffaella Mauro ◽  
Cristina Rocchi ◽  
Francesco Vasuri ◽  
Alessia Pini ◽  
Anna Laura Croci Chiocchini ◽  
...  
Keyword(s):  
Morphological Changes ◽  
Hot Spot ◽  
Wall Thickening ◽  
Proliferating Cells ◽  
Ki 67 ◽  
Group A ◽  
The Mean ◽  
Set Up ◽  
Group B

Background: Arteriovenous fistula (AVF) for hemodialysis integrates outward remodeling with vessel wall thickening in response to drastic hemodynamic changes. Aim of this study is to determine the role of Ki67, a well-established proliferative marker, related to AVF, and its relationship with time-dependent histological morphologic changes. Materials and methods: All patients were enrolled in 1 year and stratified in two groups: (A) pre-dialysis patients submitted to first AVF and (B) patients submitted to revision of AVF. Morphological changes: neo-angiogenesis (NAG), myointimal thickening (MIT), inflammatory infiltrate (IT), and aneurysmatic fistula degeneration (AD). The time of AVF creation was recorded. A biopsy of native vein in Group A and of arterialized vein in Group B was submitted to histological and immunohistochemical (IHC) analysis. IHC for Ki67 was automatically performed in all specimens. Ki67 immunoreactivity was assessed as the mean number of positive cells on several high-power fields, counted in the hot spots. Results: A total of 138 patients were enrolled, 69 (50.0%) Group A and 69 (50.0%) Group B. No NAG or MIT were found in Group A. Seven (10.1%) Group A veins showed a mild MIT. Analyzing the Group B, a moderate-to-severe MIT was present in 35 (50.7%), IT in 19 (27.5%), NAG in 37 (53.6%); AD was present in 10 (14.5%). All AVF of Group B with the exception of one (1.4%) showed a positivity for Ki67, with a mean of 12.31 ± 13.79 positive cells/hot spot (range 0–65). Ki67-immunoreactive cells had a subendothelial localization in 23 (33.3%) cases, a myointimal localization in SMC in 35 (50.7%) cases. The number of positive cells was significantly correlated with subendothelial localization of Ki67 ( p = 0.001) and with NA ( p = 0.001). Conclusions: Native veins do not contain cycling cells. In contrast, vascular cell proliferation starts immediately after AVF creation and persists independently of the time the fistula is set up. The amount of proliferating cells is significantly associated with MIT and subendothelial localization of Ki67-immunoreactive cells, thus suggesting a role of Ki-67 index in predicting AVF failure.

scholarly journals High Basal Maximal Standardized Uptake Value (SUVmax) in Follicular Lymphoma Identifies Patients with a Low Risk of Long-Term Relapse

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2876
Author(s):  
Giovanni Manfredi Assanto ◽  
Giulia Ciotti ◽  
Mattia Brescini ◽  
Maria Lucia De Luca ◽  
Giorgia Annechini ◽  
...  
Keyword(s):  
Risk Factors ◽  
Follicular Lymphoma ◽  
Standardized Uptake Value ◽  
Metabolic Tumor Volume ◽  
Late Relapse ◽  
Prognostic Role ◽  
Pet Ct ◽  
Group A ◽  
Group B

Background: Despite that the unfavorable prognostic role of a high Total Metabolic Tumor Volume (TMTV) in Follicular Lymphoma has been demonstrated, the role of SUVmax alone at baseline PET/CT could have a different prognostic role. Patients and Methods: We performed a retrospective observational monocentric cohort study. All patients affected by FL who underwent a basal PET/CT were included. Two subgroups were identified and compared in terms of PFS and OS: (A) Basal SUVmax ≤ 6; and (B) Basal SUVmax > 6. Results: Ninety-four patients were included, 34 in group A (36.2%) and 60 in group B (63.8%). The PFS at two years was comparable in the two groups (97%). The five-year PFS was 73.5% for group A and 95% for group B (p 0.005). The five-year PFS in the whole cohort was 87.5%. A clear advantage was confirmed in group A in the absence of other risk factors. Patients with SUVmax ≤ 6 and no risk factors showed a 5-year PFS of 73% against 83% for patients with SUVmax > 6 and at least two risk factors. Conclusion: A high FDG uptake favorably correlated with PFS. A low basal SUVmax reflected a higher rate of late relapse requiring a prolonged follow-up. The basal SUVmax is an approachable parameter with prognostic implications.

scholarly journals Clinical significance of late diastolic tissue doppler parameters after onset of STEMI: from the view point of the timing of the echocardipography

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Iwahashi ◽  
J Kirigaya ◽  
M Horii ◽  
T Abe ◽  
E Akiyama ◽  
...  
Keyword(s):  
Tissue Doppler ◽  
Atrial Function ◽  
Diastolic Velocity ◽  
Long Time ◽  
Group A ◽  
St Elevation ◽  
Group B ◽  
First Time

Abstract Background The early transmitral flow velocity (E) divided by the early diastolic velocity of the mitral valve annulus (e') is referred to as the “E/e' ratio,” is useful even for ST elevation acute myocardial infarction (STEMI). However, the role of late diastolic velocity (a') which reveals the atrial function for STEMI is still unclear. Objectives We evaluated the clinical usefulness of tissue Doppler including atrial function for a first-time STEMI by long time follow up. Furthermore, we evaluated the meaning of each parameters by performing immediately after PCI or 2 weeks later. Methods We treated consecutive 571 first-time STEMI patients by immediate PCI within 12 hours after onset, and we examined 270 patients at immediately after PCI (GroupA, 65 years, 250 male) and 301 patients at 2 weeks after onset (GroupB, 64 years, 243 male). We examined trans mitral flow and TDI, then defined E/e' as LV filling pressure and A/a' as left atrial function. We followed them for a long time (&gt;5 years). The primary end point (PE) was cardiac death or re-admission for heart failure (HF). Results We followed the patients in Group A for 10 years, Group B for 5 years. PE occurred in 64 patients in GroupA during 10 years, and 45 patients in GroupB during 5 years. We analyzed the univariate and multivariate Cox hazard analyses and we compared e' and a', E/e' and A/a' (Table). In GroupA, a' and A/a' were the independent predictors, on the other hand neither a' nor A/a' were the predictors in GroupB. E/e' was an independent predictor both in GroupA and B. Conclusion TDI parameters have different meanings by the timing of echocardiography after onset of a first-time STEMI. These results demonstrated that atrial dysfunction immediately after onset of STEMI suggests the poor prognosis after STEMI. Cox Hazard Proportional Analysis Funding Acknowledgement Type of funding source: None

N-Chlorinative Ring Contraction of 1,4-Dimethoxyphthalazines via a Bicyclization/Ring-Opening Mechanism

Synthesis ◽  
2020 ◽  
Author(s):  
Jeong Kyun Im ◽  
Ilju Jeong ◽  
Jun-Ho Choi ◽  
Won-jin Chung ◽  
ByeongDo Yang ◽  
...  
Keyword(s):  
Ring Opening ◽  
Reaction Conditions ◽  
Ring Contraction ◽  
Silyl Group ◽  
Favorskii Rearrangement ◽  
Mechanistic Analysis ◽  
Group A ◽  
Overall Efficiency ◽  
Trichloroisocyanuric Acid

AbstractAn unprecedented N-chlorinative ring contraction of 1,2-diazines was discovered and investigated with an electrophilic chlorinating reagent, trichloroisocyanuric acid (TCICA). Through optimization and mechanistic analysis, the assisting role of n-Bu4NCl as an exogenous nucleophile was identified, and the optimized reaction conditions were applied to a range of 1,4-dimethoxyphthalazine derivatives. Also, an improvement of overall efficiency was demonstrated by the use of a labile O-silyl group. A bicyclization/ring-opening mechanism, inspired by the Favorskii rearrangement, was proposed and supported by the DFT calculations. Furthermore, the efforts on scope expansion as well as the evaluation of other electrophilic promoters revealed that the newly developed ring contraction reactivity is a unique characteristic of 1,4-dimethoxyphthalazine scaffold and TCICA.

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