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.

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.

Exercise in intensive care units, safety and hemodynamic monitoring

2020 ◽  
Vol 19 (1) ◽  
pp. 3
Author(s):  
Giulliano Gardenghi
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Hemodynamic Monitoring ◽  
Artificial Respiration ◽  
Exercise Physiology ◽  
Ventilatory Support ◽  
Early Mobilization ◽  
Cycle Ergometer ◽  
Search Terms

Introduction: Patients in the intensive care unit (ICU) have several deleterious effects of immobilization, including weakness acquired in the ICU. Exercise appears as an alternative for early mobilization in these patients. Objective: This work aims to highlight the hemodynamic repercussions and the applicability of exercise in the ICU. Methods: An integrative literature review was carried out, with articles published between 2010 and 2018, in the Lilacs, PubMed and Scielo databases, using the following search terms: exercise, cycle ergometer, intensive care units, early mobilization, mechanical ventilation, artificial respiration. Results: 13 articles were included, addressing hemodynamic monitoring and the role of exercise as early mobilization, with or without ventilatory support. The exercise sessions were feasible and safe within the ICU environment. Conclusion: Physical exercise can be performed safely in an ICU environment, if respecting a series of criteria such as those presented here. It is important that the assistant professional seeks to prescribe interventions based on Exercise Physiology that can positively intervene in the functional prognosis in critically ill patients.Keywords: exercise, intensive care units, patient safety.

scholarly journals Routine examination of gallbladder specimens after cholecystectomy: a single-centre analysis of the incidence, clinical and histopathological aspects of incidental gallbladder carcinoma

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Davide Di Mauro ◽  
Amira Orabi ◽  
Aye Myintmo ◽  
Alex Reece-Smith ◽  
Shahjehan Wajed ◽  
...  
Keyword(s):  
Gallbladder Carcinoma ◽  
Common Finding ◽  
Adult Women ◽  
Advanced Stage ◽  
Continuous Variables ◽  
Single Centre ◽  
One Stage ◽  
Old Adult ◽  
Student’S T

Abstract Background Gallbladder carcinoma is often found incidentally on histopathologic examination after cholecystectomy—this is referred as incidental gallbladder carcinoma (IGC). Routine vs selective histopathological assessment of gallbladders is under debate and this study evaluates the role of regular specimens’ examination, based on a single-centre analysis of incidence, clinical and histopathological aspects of IGC. Methods Patients who underwent cholecystectomy, between July 2010 and January 2020, were considered. Exclusion criteria were age under 18 and preoperative diagnosis of GB carcinoma. Demographic, clinical and histopathological data were retrospectively collected, continuous variables with a normal distribution were evaluated with Student’s t-test and ANOVA. Results Some 5779 patients were included. The female/male ratio was 2.5:1. Chronic cholecystitis (CC) was the most common finding on specimens (99.3%), IGC was found in six cases (0.1%). In the latter group, there were 5 women and patients were older than those with benign disease—73.7 $$\pm$$ ±  5.38 years vs 55.8 $$\pm$$ ±  0.79 years (p < 0.05). In all the cases, the GB was abnormal on intraoperative inspection and beside cancer, histopathology showed associated CC and/or dysplasia. Upon diagnosis, disease was at advanced stage—one stage II, one stage IIIA, one stage IIIB, three stage IVA. Two patients are alive, three died of disease progression—median survival was 7 months (range 2–14). Conclusions In this series, ICG was rare, occurred most commonly in old adult women and was diagnosed at an advanced stage. In all the cases, the GB was abnormal intraoperatively, therefore macroscopic GB anomalies demand histopathological assessment of the specimen.

scholarly journals Effects of Rifaximin on Luminal and Wall-Adhered Gut Commensal Microbiota in Mice

2021 ◽  
Vol 22 (2) ◽  
pp. 500
Author(s):  
Marina Ferrer ◽  
Mònica Aguilera ◽  
Vicente Martinez
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Fragment Length Polymorphism ◽  
Functional Gastrointestinal Disorders ◽  
Antibacterial Properties ◽  
Broad Spectrum Antibiotic ◽  
Commensal Microbiota ◽  
Bacterial Biodiversity ◽  
Rule Out

Rifaximin is a broad-spectrum antibiotic that ameliorates symptomatology in inflammatory/functional gastrointestinal disorders. We assessed changes in gut commensal microbiota (GCM) and Toll-like receptors (TLRs) associated to rifaximin treatment in mice. Adult C57BL/6NCrl mice were treated (7/14 days) with rifaximin (50/150 mg/mouse/day, PO). Luminal and wall-adhered ceco-colonic GCM were characterized by fluorescent in situ hybridization (FISH) and microbial profiles determined by terminal restriction fragment length polymorphism (T-RFLP). Colonic expression of TLR2/3/4/5/7 and immune-related markers was assessed (RT-qPCR). Regardless the period of treatment or the dose, rifaximin did not alter total bacterial counts or bacterial biodiversity. Only a modest increase in Bacteroides spp. (150 mg/1-week treatment) was detected. In control conditions, only Clostridium spp. and Bifidobacterium spp. were found attached to the colonic epithelium. Rifaximin showed a tendency to favour their adherence after a 1-week, but not 2-week, treatment period. Minor up-regulation in TLRs expression was observed. Only the 50 mg dose for 1-week led to a significant increase (by 3-fold) in TLR-4 expression. No changes in the expression of immune-related markers were observed. Rifaximin, although its antibacterial properties, induces minor changes in luminal and wall-adhered GCM in healthy mice. Moreover, no modulation of TLRs or local immune systems was observed. These findings, in normal conditions, do not rule out a modulatory role of rifaximin in inflammatory and or dysbiotic states of the gut.

Surgeon-performed Ultrasound for Primary Hyperparathyroidism

2013 ◽  
Vol 79 (7) ◽  
pp. 681-685 ◽  
Author(s):  
Worthington G. Schenk ◽  
John B. Hanks ◽  
Philip W. Smith
Keyword(s):  
Primary Hyperparathyroidism ◽  
Class 1 ◽  
Additional Imaging ◽  
Surgical Cure ◽  
Operative Findings ◽  
Enhanced Computed Tomography ◽  
High Degree ◽  
Tomography Scan ◽  
Parathyroid Imaging

The role of preoperative parathyroid imaging continues to evolve. This study evaluated whether surgeon-performed ultrasound (U/S) obviates the need for other imaging studies and leads to a focused exploration with a high degree of surgical success. From July 2010 to February 2012, 200 patients presenting with nonfamilial primary hyperparathyroidism underwent neck U/S in the surgeon's office. The U/S interpretation was classified as Class 1 if an adenoma was identified with high confidence, Class 2 if a possible but not definite enlarged gland was imaged, and Class 0 (zero) if no adenoma was identified. The findings were correlated with subsequent intra-operative findings. There were 144 Class 1 U/Ss (72%); of 132 patients coming to surgery, 96.2 per cent had surgical findings concordant with preoperative U/S and all had apparent surgical cure. Twenty-nine patients (14.5%) had Class 2 U/S; the 31 per cent confirmed false-positives in this group were usually colloid nodules. Fourteen of 27 with Class 0 U/S underwent surgery after being offered dynamically enhanced computed tomography scan. All 200 patients were apparent surgical cures. Surgeon-performed U/S is expedient, convenient, inexpensive, and accurate. A clearly identified adenoma can safely lead to a focused limited exploration and avoid additional imaging 93 per cent of the time.

scholarly journals Isoform- and Paralog-Switching in IR-Signaling: When Diabetes Opens the Gates to Cancer

Biomolecules ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1617
Author(s):  
Pierluigi Scalia ◽  
Antonio Giordano ◽  
Caroline Martini ◽  
Stephen J. Williams
Keyword(s):  
Insulin Resistance ◽  
Type 2 Diabetes ◽  
Growth Factor ◽  
Solid Tumors ◽  
Common Finding ◽  
Absolute Increase ◽  
Preferential Expression ◽  
Exon 11

Insulin receptor (IR) and IR-related signaling defects have been shown to trigger insulin-resistance in insulin-dependent cells and ultimately to give rise to type 2 diabetes in mammalian organisms. IR expression is ubiquitous in mammalian tissues, and its over-expression is also a common finding in cancerous cells. This latter finding has been shown to associate with both a relative and absolute increase in IR isoform-A (IR-A) expression, missing 12 aa in its EC subunit corresponding to exon 11. Since IR-A is a high-affinity transducer of Insulin-like Growth Factor-II (IGF-II) signals, a growth factor is often secreted by cancer cells; such event offers a direct molecular link between IR-A/IR-B increased ratio in insulin resistance states (obesity and type 2 diabetes) and the malignant advantage provided by IGF-II to solid tumors. Nonetheless, recent findings on the biological role of isoforms for cellular signaling components suggest that the preferential expression of IR isoform-A may be part of a wider contextual isoform-expression switch in downstream regulatory factors, potentially enhancing IR-dependent oncogenic effects. The present review focuses on the role of isoform- and paralog-dependent variability in the IR and downstream cellular components playing a potential role in the modulation of the IR-A signaling related to the changes induced by insulin-resistance-linked conditions as well as to their relationship with the benign versus malignant transition in underlying solid tumors.

scholarly journals Additional Diagnostic Yield of Adding Serology to PCR in Diagnosing Viral Acute Respiratory Infections in Kenyan Patients 5 Years of Age and Older

2012 ◽  
Vol 20 (1) ◽  
pp. 113-114 ◽  
Author(s):  
Daniel R. Feikin ◽  
M. Kariuki Njenga ◽  
Godfrey Bigogo ◽  
Barrack Aura ◽  
Stella Gikunju ◽  
...  
Keyword(s):  
Respiratory Infections ◽  
Diagnostic Yield ◽  
Epidemiologic Studies ◽  
Acute Respiratory Infections ◽  
Clinical Use ◽  
Paired Sample ◽  
Parainfluenza Viruses ◽  
Syncytial Virus ◽  
Etiologic Diagnosis

ABSTRACTThe role of serology in the setting of PCR-based diagnosis of acute respiratory infections (ARIs) is unclear. We found that acute- and convalescent-phase paired-sample serologic testing increased the diagnostic yield of naso/oropharyngeal swabs for influenza virus, respiratory syncytial virus (RSV), human metapneumovirus, adenovirus, and parainfluenza viruses beyond PCR by 0.4% to 10.7%. Although still limited for clinical use, serology, along with PCR, can maximize etiologic diagnosis in epidemiologic studies.

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