scholarly journals Molecular Analysis in Patients with Idiopathic Erythrocytosis

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2230-2230
Author(s):  
Katarzyna Aleksandra Jalowiec ◽  
Naomi A. Porret ◽  
Raphael Joncourt ◽  
Alicia Rovo
Keyword(s):  
Molecular Analysis ◽  
Gene Variants ◽  
Reference Allele ◽  
Alternative Allele ◽  
Unknown Significance ◽  
Exon 1 ◽  
Travel Grant ◽  
Clinical Records ◽  
Idiopathic Erythrocytosis

Background: Erythrocytosis corresponds to an increase in the red blood count, hemoglobin (Hb) concentration and hematocrit (Htc) above the reference range adjusted to age, sex and living altitude. Clinical and molecular data on patients suffering from primary erythrocytosis are sparse. Due to its rare incidence, primary erythrocytosis frequently represents a challenge for the diagnosis. The management of such patients is demanding as no clear standards of treatment have been defined. Objective: We aimed to analyze the clinical and molecular features of patients with idiopathic erythrocytosis at our clinic. Methods: We evaluate in our internal registry patients encoded as erythrocytosis (primary or secondary) which were currently in follow-up. All data was obtained from the clinical records of the patients. For patient selection, we focused on those in which a JAK2 determination was available. We identified 102 patients from them 78 patients were JAK2 positive and were excluded in this analysis. 24 patients were initially selected as possible idiopathic erythrocytosis, of which 8 patients were excluded due to possible secondary causes. Patients in whom the diagnosis of primary erythrocytosis was suspected were studied with a 13 genes NGS panel. The analyzed genes included EPOR (exons 7,8), VHL (orf including exon 1'), EGLN1, EPAS1, EPO (including several regulatory regions), JAK2 (exons 12-16), BPGM, HBB, HBA1, HBA2, HIF3A, OS9, SH2B3 (somatic). Only gene variants of the categories pathogenic, likely pathogenic and variant of unknown significance (VUS) according to ACMG guidelines 2015 are mentioned. Results: We identified 16 patients (15%) that did not fulfill the criteria for polycythemia vera nor had a secondary underlying cause of polycythemia and were diagnosed as idiopathic erythrocytosis. The median age was 32 years (r 20-76) and 81% (13/16) were males. The median Hb-value was 173 g/l (r 142-192), Htc 50% (r 43-65%). The median erythrocyte concentration was 5.87 G/l (r 5.18-6.57 G/l). No thromboembolic complications occurred in any of these patients either before or after diagnosis. Eleven patients (69%) were initially treated with venesection, which was interrupted during the follow-up except in two cases. The median follow-up in our clinic was 43 months (r 1 - 132). The median follow up since the interruption of venesection was 23 months (r 12-106). There was no evolution to leukemia, a myeloproliferative disorder or any kind of tumor. In the results of the molecular analysis we found that the EPO: c.-1306C>A, rs1617640 reference allele was never homozygous. Indeed, all 16 patients showed an alternative allele: nine patients were heterozygous and 8 homozygous. EPO c.*772G>T, rs551238 was similarly distributed: no patients homozygous for the reference allele, 8 heterozygous and 8 patients homozygous for the alternative allele. In 5 patients other gene variants were also detected: in two patients EGLN1: c.1088T>G, p.(Leu363Arg) (the nucleotide is highly conserved, VUS, likely pathogenic), the other three were VHL: c.340+648T>C (reported as quite frequent, so more likely VUS, but it is within the alternate exon 1 region described by Lenglet et al. thus further studies are recommended), EPO: c.-1206C>A (not rare, VUS), EPO: c.*656G>A (downstream variant, very rare, unknown significance) respectively. No other mutations were identified. Conclusion: In our clinic idiopathic erythrocytosis showed a population of patients predominantly constituted of young men, had an indolent evolution, neither presented with thrombotic complications before or after the diagnosis, nor with a hematological transformation. The high prevalence of EPO gene variant underlines the role of this association. The five patients with combined mutations did not show a different clinical pattern. The use of NGS to evaluate patients with unclear erythrocytosis might allow an improvement in clinical management avoiding unnecessary interventions. Disclosures Jalowiec: Novartis: Other: Travel grant; Amgen: Other: Travel grant; Pfizer: Other: Travel grant.

The role of inflammation in recent-onset dilated cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Chaloupka ◽  
J Krejci ◽  
H Poloczkova ◽  
P Hude ◽  
E Ozabalova ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Pcr Analysis ◽  
Myocardial Inflammation ◽  
Gene Variants ◽  
Absolute Increase ◽  
Recent Onset ◽  
Cardiotropic Viruses

Abstract Background The aetiology of recent-onset dilated cardiomyopathy (RODCM) includes inflammatory, genetic, toxic and metabolic causes. Delineating the role of inflammation on the genetic background could improve risk stratification. Purpose We aimed to ascertain the role of inflammation evaluated by serum CRP immunohistochemical and PCR analysis of endomyocardial biopsy (EMB) in conjunction with genetic testing in left ventricular reverse remodelling (LVRR) in 12-month follow-up. Methods 83 RODCM patients enrolled in this prospective observational study underwent 12-month echocardiographic follow up whole-exome sequencing, and EMB. Presence of cardiotropic viruses was determined by PCR analysis of the EMB samples. Inflammation was defined according to TIMIC immunohistochemical criteria as the presence of >7 CD3+ lymphocytes/mm2 and/or >14 infiltrating leukocytes (LCA+ cells/mm2). LVRR was defined as an absolute increase in LV ejection fraction > +10% and a relative decrease of LV end-diastolic diameter >−10% at 12 months. Results LVRR occurred in 28 (34%) of all cases. PCR analysis uncovered cardiotropic viruses in 55 (66%) patients, with highest prevalence of parvovirus B19 (47%). (Figure 1) EMB analysis detected inflammation in 28 (34%) cases and inflammation significantly positively predicted LVRR (P=0.019). Sequencing identified disease-related gene variants (ACMG class 3–5) in 45 (54%) patients. Carriers of non-titin gene variants showed a lowest probability of 12-month LVRR (19%) P=0.041. Combination of genetic findings and inflammation did not improve the prediction of LVRR in 12 months. (Table 1) Conclusion Both myocardial inflammation and disease-causing variants can be identified in a large proportion of RODCM cases. Prognostic value of CRP and virus detection is low. Non-titin disease-related variants carriers of are less likely to reach LVRR. In contrast, myocardial inflammation detected by EMB predicts favourable remodelling in 12 months. Figure 1 Funding Acknowledgement Type of funding source: None

scholarly journals Excision of Greater Superficial Petrosal Nerve Schwannoma Via a Pure Endoscopic Endonasal Approach

2021 ◽  
pp. 014556132110263
Author(s):  
Zhenlin Wang ◽  
Siyuan Zhang ◽  
Yan Qi ◽  
Lianjie Cao ◽  
Pu Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Middle Cranial Fossa ◽  
Nerve Sheath Tumor ◽  
Endoscopic Endonasal Approach ◽  
Endonasal Approach ◽  
Endoscopic Endonasal ◽  
Greater Superficial Petrosal Nerve ◽  
Clinical Records

Greater superficial petrosal nerve (GSPN) schwannomas are an exceedingly rare nerve sheath tumor. The current literature search was conducted using Medline and Embase database by key search terms. Only 31 cases have been reported in the literature so far. Facial palsy, hearing loss, and xerophthalmia accounted for 48.4% (15), 41.9% (13), and 29% (9) of all cases, respectively. The middle cranial fossa approach was used in all previous reports. A retrospective review of 2 GSPN schwannomas patients treated by endoscopic endonasal approach (EEA) in our center was collected. Clinical records, including clinical features, pre- and postoperative images, surgery, and follow-up information, were reviewed. In all cases, clinical features including facial numbness and headache were found, with tinnitus in case 1, hearing loss, xerophthalmia in case 2. Imaging studies showed a solid mass that originated in the anterior of the petrous bone. Two patients were treated by EEA. Furthermore, no recurrence was found during the follow-up period (15-29 months) in both of the 2 cases after the operation. Complete resection of GSPN schwannomas can be achieved via the pure EEA. Endoscopic endonasal approach for radical removal of tumors is safe and feasible.

Traumatic physeal fractures in cats: a review of 36 cases (2010–2020)

2021 ◽  
pp. 1098612X2110058
Author(s):  
Carlos Rubinos ◽  
Richard L Meeson
Keyword(s):  
Distal Tibia ◽  
Fracture Repair ◽  
Implant Removal ◽  
Type I ◽  
Physeal Fracture ◽  
Physeal Closure ◽  
Femoral Physis ◽  
Clinical Records ◽  
Physeal Fractures

Objectives The aim of this study was to describe the demography, aetiology, location and classification of physeal fractures in cats, and to describe their management and outcomes. Methods Clinical records and radiographs of cats referred for management of physeal fractures were retrospectively reviewed. Fractures of the proximal femoral physis were excluded. Descriptive statistics were used to describe signalment, cause of injury, presence of concurrent injuries, fracture description, treatment modality, complications, follow-up, physeal closure, implant removal and outcome. Results Thirty-four cats with 36 fractures were included, of which 17 affected the distal femur, 11 the distal tibia and fibula, five the distal radius and ulna, two the proximal tibia and one the distal humerus. Salter–Harris classification was type I in 14, type II in 16, type III in two and type IV in four fractures. Thirty-four fractures were treated with primary fixation, and the most common method was crossed Kirschner wires (24/34 fractures). Complications were observed in 14 fractures, of which 12 were minor. At radiographic follow-up, physeal closure was reported in 23 fractures, of which 15 were considered premature. Implant removal was performed in three fractures. Outcome was good in 28, fair in four and poor in two fractures. Conclusions and relevance Fracture of the distal femoral physis was the most common physeal fracture seen. Cats presenting with physeal fractures may be skeletally immature or mature with delayed physeal closure. The rate of physeal closure after fracture repair was relatively high but without apparent impact. The frequency of implant removal was very low, indicating that despite having a physeal fracture repair, most cats did not require a second procedure to remove implants. Overall, internal fixation provided a good outcome in most fractures.

scholarly journals Associations of MC4R, LEP, and LEPR Polymorphisms with Obesity-Related Parameters in Childhood and Adulthood

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 949
Author(s):  
Asta Raskiliene ◽  
Alina Smalinskiene ◽  
Vilma Kriaucioniene ◽  
Vaiva Lesauskaite ◽  
Janina Petkeviciene
Keyword(s):  
Gene Polymorphisms ◽  
Energy Homeostasis ◽  
Anthropometric Measurements ◽  
Gene Variants ◽  
Chain Reaction ◽  
Fat Level ◽  
Mc4r Rs17782313 ◽  
Polymerase Chain ◽  
Lep Gene

MC4R, LEP, and LEPR genes are involved in the hypothalamic leptin-melanocortin regulation pathway, which is important for energy homeostasis. Our study aimed to evaluate the associations between the MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms with obesity-related parameters in childhood and adulthood. The data were obtained from the Kaunas Cardiovascular Risk Cohort study, which started in 1977 with 1082 participants aged 12–13 years. In 2012–2014, the follow-up survey was carried out. Genotype analysis of all respondents (n = 509) aged 48–49 years was performed for the gene polymorphisms using Real-Time Polymerase Chain Reaction. Anthropometric measurements were performed in childhood and adulthood. In childhood, only skinfold thicknesses were associated with gene variants being the lowest in children with MC4R TT genotype and LEP AG genotype. In adulthood, odds of obesity and metabolic syndrome was higher in MC4R CT/CC genotype than TT genotype carriers (OR 1.8; 95% CI 1.2–2.8 and OR 1.6; 95% CI 1.1–2.4, respectively). In men, physical activity attenuated the effect of the MC4R rs17782313 on obesity. The LEP GG genotype was associated with higher BMI, waist circumference, and visceral fat level only in men. No associations of the LEPR rs1137101 polymorphisms with anthropometric measurements and leptin level were found. In conclusion, the associations of the MC4R and LEP gene polymorphisms with obesity-related parameters strengthened with age.

Health assessments for Indigenous Australians at Orange Aboriginal Medical Service: health problems identified and subsequent follow up

2016 ◽  
Vol 22 (3) ◽  
pp. 233 ◽  
Author(s):  
Tegan Dutton ◽  
Wendy Stevens ◽  
Jamie Newman
Keyword(s):  
Medical Service ◽  
Pap Smear ◽  
Aboriginal Health ◽  
Indigenous Australians ◽  
Adult Women ◽  
Health Issues ◽  
Retrospective Audit ◽  
Health Assessments ◽  
Clinical Records

This study aimed to document the types, management and follow up of health issues identified by all Aboriginal Health Assessments (AHA) performed at Orange Aboriginal Medical Service from 1 January 2011 to 31 December 2012. This was done with a retrospective audit of clinical records. In total, 1169 AHAs were performed: 41% child, 53% adult and 6% older person AHAs. Newly identified health issues were documented in 85% (984). Being overweight (41%; 476) and smoking (26%; 301) were the common risk factors identified. As a result of the AHA, most children who were not up-to-date with their vaccinations received catch-up immunisations; 11% (36) of adult women (n=314) received a Pap smear, although Pap smear status was unknown or not up-to-date for 61% (192); 27% (311) of cases were prescribed new medication; and 1239 referrals were made but only 40% were attended. At 6 months following the AHA, 26% (240) of cases with newly identified health issues were completely managed and followed up, whereas 25% (226) received no follow up. The AHAs are useful for identifying new health issues; however, follow up of the identified health issues should be improved. If AHAs are to improve health outcomes, appropriate management and follow up of the identified health issues are essential.

scholarly journals Survival Rate of 1008 Short Dental Implants with 21 Months of Average Follow-Up: A Retrospective Study

2020 ◽  
Vol 9 (12) ◽  
pp. 3943
Author(s):  
João Caramês ◽  
Ana Catarina Pinto ◽  
Gonçalo Caramês ◽  
Helena Francisco ◽  
Joana Fialho ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Survival Rate ◽  
Dental Implants ◽  
Cox Regression ◽  
Survival Rates ◽  
High Survival ◽  
Implant Survival ◽  
Posterior Maxilla ◽  
Clinical Records

This retrospective study evaluated the survival rate of short, sandblasted acid-etched surfaced implants with 6 and 8 mm lengths with at least 120 days of follow-up. Data concerning patient, implant and surgery characteristics were retrieved from clinical records. Sandblasted and acid-etched (SLA)-surfaced tissue-level 6 mm (TL6) or 8 mm (TL8) implants or bone-level tapered 8 mm (BLT8) implants were used. Absolute and relative frequency distributions were calculated for qualitative variables and mean values and standard deviations for quantitative variables. A Cox regression model was performed to verify whether type, length and/or width influence the implant survival. The cumulative implant survival rate was assessed by time-to-event analyses (Kaplan–Meier estimator). In all, 513 patients with a mean age of 58.00 ± 12.44 years received 1008 dental implants with a mean follow-up of 21.57 ± 10.77 months. Most implants (78.17%) presented a 4.1 mm diameter, and the most frequent indication was a partially edentulous arch (44.15%). The most frequent locations were the posterior mandible (53.97%) and the posterior maxilla (31.55%). No significant differences were found in survival rates between groups of type, length and width of implant with the cumulative rate being 97.7% ± 0.5%. Within the limitations of this study, the evaluated short implants are a predictable option with high survival rates during the follow-up without statistical differences between the appraised types, lengths and widths.

Idiopathic erythrocytosis: a study of a large cohort with a long follow-up

2015 ◽  
Vol 95 (2) ◽  
pp. 233-237 ◽  
Author(s):  
Maria Luigia Randi ◽  
Irene Bertozzi ◽  
Elisabetta Cosi ◽  
Claudia Santarossa ◽  
Edoardo Peroni ◽  
...  
Keyword(s):  
Large Cohort ◽  
Idiopathic Erythrocytosis

Bifurcated bypass in severe chronic limb threatening ischaemia

Vascular ◽  
2021 ◽  
pp. 170853812199985
Author(s):  
Daniele Adami ◽  
Michele Marconi ◽  
Alberto Piaggesi ◽  
Davide M Mocellin ◽  
Raffaella N Berchiolli ◽  
...  
Keyword(s):  
Survival Rates ◽  
Primary Patency ◽  
Free Survival ◽  
Mortality And Morbidity ◽  
Bypass Patency ◽  
Stage 4 ◽  
Endovascular Approach ◽  
The Mean ◽  
Clinical Records

Objectives Revascularization according to the angiosome concept is of proven importance for limb salvage in chronic limb threatening ischaemia but it is not always practicable. Bifurcated bypasses could be considered as an option when an endovascular approach is not feasible or has already failed and a single bypass would not allow direct revascularization of the ischaemic area. Bifurcated bypasses are characterized by landing on two different arteries, the main artery (in direct continuity with the foot vessels) and the secondary one (perfusing the angiosome district). The aim of this study is to evaluate the safety and effectiveness of bifurcated bypass in chronic limb threatening ischaemia. Methods Thirty-five patients were consecutively treated with a bifurcated bypass for chronic limb threatening ischaemia from January 2014 to December 2019 in a single vascular surgery centre. Data from clinical records and operative registers were collected prospectively in an electronic database and retrospectively analysed. Primary and primary assisted bypass patency, amputation-free survival, morbidity and mortality rates at 12 and 24 months were analysed. Results Mean follow-up period was 25.1 months (range 2–72 months). Thirty-six bifurcated bypasses were performed on 35 patients (age 75.3 ± 7.2 years; 69.4% were male). According to Wound, Ischemia, foot Infection classification 22.2% belonged to stage 3 and 77.8% to stage 4 and the mean Rutherford’s class was 5.1 ± 0.7. Immediate technical success was 100%. Early mortality and morbidity rates were respectively 5.5%, and 33.3%; foot surgery was performed in 50% of cases with wound healing in all patients. Primary patency and primary assisted bypass patency were 96.7% and 100% at 6 months; 85.2% and 92% at 12 months, 59.9% and 73.4% at 24 months, respectively. Amputation-free survival at 12 and 24 months was, respectively, 95.6% and 78.8%. Overall survival rates at 12 and 24 months were respectively 94.4% and 91.6%. Conclusions Bifurcates bypass can provide good results in patients with chronic limb threatening ischaemia without endovascular option, especially in diabetic ones. Bifurcated bypass is a complex surgical solution, both to be planned and performed, and it is quite invasive for frail patients that should be accurately selected.

En Plaque Sphenoid Wing Meningiomas: Recurrence Factors and Surgical Strategy in a Series of 71 Patients

2009 ◽  
Vol 65 (suppl_6) ◽  
pp. ons100-ons109 ◽  
Author(s):  
Giuseppe Mirone ◽  
Salvatore Chibbaro ◽  
Luigi Schiabello ◽  
Serena Tola ◽  
Bernard George
Keyword(s):  
Cavernous Sinus ◽  
Residual Tumor ◽  
Complete Removal ◽  
Subtotal Resection ◽  
Presenting Symptoms ◽  
Time To Recurrence ◽  
Clinical Records ◽  
Mean Time ◽  
Case Basis

Abstract Objective: En plaque sphenoid wing meningiomas are complex tumors involving the sphenoid wing, the orbit, and sometimes the cavernous sinus. Complete removal is difficult, so these tumors have high rates of recurrence and postoperative morbidity. The authors report a series of 71 patients with sphenoid wing meningiomas that were managed surgically. Methods: The clinical records of 71 consecutive patients undergoing surgery for sphenoid wing meningiomas at Lariboisière Hospital, Paris, were prospectively collected in a database during a 20-year period and analyzed for presenting symptoms, surgical technique, clinical outcome, and follow-up. Results: Among the 71 patients (mean age, 52. 7 years; range, 12–79 years), 62 were females and 9 were males. The most typical symptoms recorded were proptosis in 61 patients (85.9%), visual impairment in 41 patients (57.7%), and oculomotor paresis in 9 patients (12.7%). Complete removal was achieved in 59 patients (83%). At 6 months of follow-up, magnetic resonance imaging scans revealed residual tumor in 12 patients (9 in the cavernous sinus and 3 around the superior orbital fissure). Mean follow-up was 76.8 months (range, 12–168 months). Tumor recurrence was recorded in 3 of 59 patients (5%) with total macroscopic removal. Among the patients with subtotal resection, tumor progression was observed in 3 of 12 patients (25%; 2 patients with grade III and 1 patient with grade IV resection). Mean time to recurrence was 43.3 months (range, 32–53 months). Conclusion: Surgical management of patients with sphenoid wing meningiomas cannot be uniform; it must be tailored on a case-by-case basis. Successful resection requires extensive intra- and extradural surgery. We recommend optic canal decompression in all patients to ameliorate and/or preserve visual function.

Long-Term (9–12 Years) Outcomes of Titanium Implants With an Oxidized Surface: A Retrospective Investigation on 209 Implants

2015 ◽  
Vol 41 (4) ◽  
pp. 437-443 ◽  
Author(s):  
Marco Mozzati ◽  
Giorgia Gallesio ◽  
Massimo Del Fabbro
Keyword(s):  
Survival Rate ◽  
Bone Remodeling ◽  
Titanium Implants ◽  
Pocket Depth ◽  
Long Term Study ◽  
Bone Response ◽  
Single Tooth ◽  
Clinical Records

The aim of this paper is to retrospectively assess the long-term clinical and radiological results in a group of patients treated with Brånemark TiUnite implants supporting mostly single-tooth and partial restorations. The clinical records of 90 consecutive patients (mean age 55.9 years; range 21–82 years), treated with 209 Brånemark System MkIII or MkIV TiUnite implants (72 maxillary/137 mandibular; 26 anterior intercanine/183 posterior sites), were analyzed. Indication types were single tooth (n = 21 implants), partial (n = 180) and full arches (n = 8). A delayed loading protocol was applied in 128 implants, while 81 were immediately loaded. Cumulative survival rate and marginal bone remodeling were evaluated. Marginal bone level was evaluated by an independent radiologist from periapical radiographs taken at implant insertion and at long-term follow up. Plaque, probing pocket depth and peri-implant mucosa conditions were also assessed. The results showed the mean follow-up duration was 11.0 years (range 9.6–12.4 years): 181 implants (90.5%) reached at least 10 years follow-up, 100 implants 11 years, and 17 implants 12 years. Overall, 6 implants failed in 4 patients (5 during the first year and 1 after 2 years) resulting in a 97.1% survival rate after 12 years. Mean bone levels at implant insertion and at the last follow up were −0.90 ± 1.16 mm (mean ± SD; n = 169) and −1.49 ± 0.95 mm (n = 195), respectively. Mean marginal bone remodeling from implant insertion to the last follow-up was −0.60 ± 1.17 mm (n = 168). At the last available follow-up, mean pocket depth was 1.65 ± 0.84 mm. Peri-implant mucosa was normal for the majority (97%) of implants. In conclusion, this retrospective long-term study showed excellent survival rate of TiUnite implants as well as favorable marginal bone response and soft tissue conditions.

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