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International Journal of Chronic... 2022Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) are associated with polycythemia. However, there still remain unanswered questions about...
PURPOSE
Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) are associated with polycythemia. However, there still remain unanswered questions about the relationship between overlap syndrome (OVS), where OSA and COPD coexist, and polycythemia. Here, we aimed to establish the prevalence of polycythemia in OVS patients and to explore the impact of OSA on polycythemia.
PATIENTS AND METHODS
Patients with COPD underwent overnight polysomnography (PSG), pulmonary function tests, echocardiography, and complete blood counts. All patients were ethnic Han Chinese and free of prolonged oral corticosteroid use, hematological system disease, severe systemic disease, and other sleep-disordered breathing. OVS was defined as COPD patients with an apnea-hypopnea index ≥15 events/h, and polycythemia was defined as an Hb >165 g/L in men and >160 g/L in women.
RESULTS
Eight-hundred and eighty-six patients with COPD were included in the analysis. The prevalence of polycythemia was significantly higher in OVS patients than COPD-alone patients (6.4% vs 2.9%, < 0.05). The prevalence of polycythemia increased with OSA severity ( = 7.885, = 0.007), but not in GOLD grade 3-4 COPD patients ( = 0.190, = 0.663). After adjusting for confounders, percentage of total sleep time with SaO <90% (TS) remained independently associated with an increased odds of polycythemia (OR 1.030, 95% CI 1.015-1.046) and, with an increase in TS, the hemoglobin increased, especially in GOLD grade 1-2 patients ( < 0.05).
CONCLUSION
Patients with OVS have a higher prevalence of polycythemia than those with COPD alone, and TS is an independent factor for polycythemia, especially in GOLD1-2 COPD patients.
Topics: Female; Humans; Male; Polycythemia; Polysomnography; Prevalence; Pulmonary Disease, Chronic Obstructive; Sleep Apnea, Obstructive
PubMed: 35068930
DOI: 10.2147/COPD.S338824 -
Placenta Jan 2020(Macro)autophagy is an important process of self-degradation of macromolecules and organelles that ensures cellular homeostasis and energy preservation during stressful...
BACKGROUND
(Macro)autophagy is an important process of self-degradation of macromolecules and organelles that ensures cellular homeostasis and energy preservation during stressful conditions. Dysregulated placental autophagy has been implicated in a wide range of pregnancy complications. Recent studies identified hypoxia as a key regulator of trophoblast autophagy in vitro; however, its effects on placental autophagy in vivo remain incompletely understood. In this study, we evaluated the monochorionic twin anemia-polycythemia sequence (TAPS) placenta as model of discordant placental oxygenation to determine the effects of hypoxia on placental autophagy in utero.
METHODS
We performed a retrospective comparative analysis of tissue oxygenation and autophagy in anemic and polycythemic territories of TAPS placentas (N = 12). Archival tissues were subjected to immunohistochemical, immunofluorescence and Western blot analyses of carbonic anhydrase (CA) IX (hypoxia marker) and key autophagy/lysosomal markers.
RESULTS
CAIX protein levels were significantly higher in anemic twin territories than in corresponding polycythemic territories, consistent with relative tissue hypoxia. Anemic placental shares further displayed significantly higher levels of LC3I/II (autophagosome markers) and LAMP1/2 (lysosome markers), associated with upregulated expression of lysosome/autophagosome activity-associated markers, transcription factor EB and cathepsin D. The accumulation of autophagosomes and lysosomes in anemic shares was accompanied by elevated p62 protein expression, suggestive of inhibition of the downstream autophagy pathway.
CONCLUSIONS
TAPS placentas display striking intertwin discordance in tissue oxygenation and autophagic activity and may provide a suitable model for study of the interrelationship between hypoxia, autophagy, and pregnancy outcome in a monochorionic twin setting.
Topics: Anemia; Autophagy; Female; Fetofetal Transfusion; Gestational Age; Humans; Placenta; Polycythemia; Pregnancy; Retrospective Studies
PubMed: 32056557
DOI: 10.1016/j.placenta.2019.11.003 -
Transplant International : Official... Oct 2012Anemia is a highly prevalent disorder in recipients of renal allografts. Despite its frequent occurrence, there is still uncertainty with regard to treatment targets and... (Review)
Review
Anemia is a highly prevalent disorder in recipients of renal allografts. Despite its frequent occurrence, there is still uncertainty with regard to treatment targets and treatment options. This includes questions on appropriate iron management, the choice and dosage of erythropoietin stimulating agents, criteria for the timing of treatment initiation and the targeted hemoglobin values. The review summarizes available data on recent therapeutic strategies for post transplant anemia, as well as for post transplant erythrocytosis, another hematological disorder, that has decreased in recent years.
Topics: Aged; Anemia; Female; Graft Rejection; Graft Survival; Hematinics; Humans; Immunosuppressive Agents; Kidney Transplantation; Living Donors; Male; Middle Aged; Polycythemia; Postoperative Complications; Risk Factors; Transplantation, Homologous
PubMed: 22716097
DOI: 10.1111/j.1432-2277.2012.01513.x -
Haematologica Nov 2023Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study...
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different laboratories. We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2 prolyl 4-hydroxylase, a major inhibitor of hypoxia-inducible factor. We performed a comprehensive study to evaluate the causal role of the identified PHD2 variants: (i) in silico studies of localization, conservation, and deleterious effects; (ii) analysis of hematologic parameters of carriers identified in the UK Biobank; (iii) functional studies of the protein activity and stability; and (iv) a comprehensive study of PHD2 splicing. Altogether, these studies allowed the classification of 16 pathogenic or likely pathogenic mutants in a total of 48 patients and relatives. The in silico studies extended to the variants described in the literature showed that a minority of PHD2 variants can be classified as pathogenic (36/96), without any differences from the variants of unknown significance regarding the severity of the developed disease (hematologic parameters and complications). Here, we demonstrated the great value of federating laboratories working on such rare disorders in order to implement the criteria required for genetic classification, a strategy that should be extended to all hereditary hematologic diseases.
Topics: Humans; Polycythemia; Hypoxia-Inducible Factor-Proline Dioxygenases; Germ-Line Mutation; Base Sequence
PubMed: 37317877
DOI: 10.3324/haematol.2023.282913 -
CMAJ : Canadian Medical Association... Oct 2020
Topics: Humans; Polycythemia; Sodium-Glucose Transporter 2 Inhibitors
PubMed: 33077524
DOI: 10.1503/cmaj.76686 -
American Journal of Physiology. Heart... Dec 2021Expansion in blood volume (BV) is a well-recognized response to arterial underfilling secondary to impaired cardiac output in heart failure (HF). However, the... (Observational Study)
Observational Study
Expansion in blood volume (BV) is a well-recognized response to arterial underfilling secondary to impaired cardiac output in heart failure (HF). However, the effectiveness of this response in terms of outcomes remains inadequately understood. Prospective analysis was undertaken in 110 patients with HF hospitalized and treated for fluid overload. BVs were measured in a compensated state at the hospital discharge using the indicator-dilution methodology. Data were analyzed for composite 1-year HF-related mortality/first rehospitalization. Despite uniform standard of care, marked heterogeneity in BVs was identified across the cohort. The cohort was stratified by BV expansion greater than or equal to +25% above normal (51% of cohort), mild-moderate expansion (22%), and normal BV (27%). Kaplan-Meier (K-M) survival estimates and regression analyses revealed BV expansion (greater than or equal to +25%) to be associated with better event-free survival relative to normal BV ( = 0.038). Increased red blood cell mass (RBCm; RBC polycythemia) was identified in 43% of the overall cohort and 70% in BV expansion greater than or equal to +25%. K-M analysis demonstrated polycythemia to be associated with better outcomes compared with normal RBCm ( < 0.002). Persistent BV expansion to include RBC polycythemia is common and, importantly, associated with better clinical outcomes compared with normal total BV or normal RBCm in patients with chronic HF. However, compensatory BV expansion is not a uniform physiological response to the insult of HF with marked variability in BV profiles despite uniform standard of care diuretic therapy. Therefore, recognizing the variability in volume regulation pathophysiology has implications not only for impact on clinical outcomes and risk stratification but also potential for informing individualized volume management strategies. The novel findings of this study demonstrate that intravascular volume profiles among the patients with chronic heart failure (HF) vary substantially even with similar clinical compensation. Importantly, a profile of blood volume (BV) expansion (compared with a normal BV) is associated with lower HF mortality/morbidity. Furthermore, RBC polycythemia is common and independently associated with improved outcomes. These observations support BV expansion with RBC polycythemia as a compensatory mechanism in chronic HF.
Topics: Aged; Aged, 80 and over; Blood Volume; Blood Volume Determination; Chronic Disease; Diuretics; Female; Heart Failure; Hematocrit; Hemodynamics; Humans; Male; Middle Aged; Polycythemia; Progression-Free Survival; Prospective Studies; Risk Factors; Time Factors
PubMed: 34676782
DOI: 10.1152/ajpheart.00336.2021 -
The Journal of Veterinary Medical... Apr 2024Here we report a case series of two dogs diagnosed as renal interstitial cell tumor (RICT) accompanied by elevated serum erythropoietin level and marked polycythemia....
Here we report a case series of two dogs diagnosed as renal interstitial cell tumor (RICT) accompanied by elevated serum erythropoietin level and marked polycythemia. RICT is a rare tumor in dogs, originating from renal interstitial cells. While several renal tumors such as renal lymphoma, adenocarcinoma, carcinoma, sarcoma, fibrosarcoma and nephroblastoma may cause polycythemia, polycythemia caused by RICT has never been reported in dogs. The tumors in both dogs were solitary and lied within cortex or cortico-medullary junction. Histopathology revealed spindle-shaped cells suggesting mesenchymal origin, with no mitotic figures suggesting that the tumors in both dogs were benign. Following surgical removal of the affected kidney, serum erythropoietin level and polycythemia normalized in both dogs.
Topics: Male; Dogs; Animals; Polycythemia; Leydig Cell Tumor; Erythropoietin; Dog Diseases; Kidney Neoplasms
PubMed: 38383003
DOI: 10.1292/jvms.23-0413 -
JPMA. the Journal of the Pakistan... Jun 2022Haemoglobin contains iron in a ferrous form. When the iron is oxidized, it is called Methaemoglobin (MetHb). MetHb leads to tissue hypoxia, cyanosis, and secondary...
Haemoglobin contains iron in a ferrous form. When the iron is oxidized, it is called Methaemoglobin (MetHb). MetHb leads to tissue hypoxia, cyanosis, and secondary polycythemia. Methaemoglobinaemia is acquired or congenital. In this case, a 22-years-old male patient presented with cyanosis, headache, and lack of concentration. Cyanosis was present since birth. His previous investigations showed polycythemia. He was misdiagnosed on multiple occasions and was undergoing venesections for polycythemia. On evaluation at a private clinic, an Oxygen saturation gap was noted between the results of the pulse oximeter and arterial blood gas analyzer. This raised suspicion on the presence of MetHb. He was referred to Armed Forces Institute of Pathology, Rawalpindi for further workup.The sample obtained for MetHb was chocolate brown in colour. Analysis was done via co-oximetry. A high level of MetHb (45.6%) was obtained. All other radiological and haematological investigations were in the normal range. On the basis of history, clinical presentation, and investigations, he was diagnosed as a case of congenital methaemoglobinaemia with secondary polycythemia.
Topics: Adult; Cyanosis; Hemoglobin M; Humans; Iron; Male; Methemoglobinemia; Polycythemia; Young Adult
PubMed: 35751341
DOI: 10.47391/JPMA.2129 -
Blood Mar 1953
Topics: Diagnosis, Differential; Erythrocytes; Humans; Polycythemia; Polycythemia Vera
PubMed: 13032198
DOI: No ID Found -
Biomedical Papers of the Medical... Jun 2014Backround. There is increasing evidence of the role of hypoxia or pseudohypoxia in tumorigenesis, including pheochromocytoma (PHEO) and paraganglioma (PGL).... (Review)
Review
UNLABELLED
Backround. There is increasing evidence of the role of hypoxia or pseudohypoxia in tumorigenesis, including pheochromocytoma (PHEO) and paraganglioma (PGL). (Pseudo)hypoxia leads to activation of hypoxia-inducible transcription factors (HIFs) and thus, promotes the transcription of hypoxia-responsive genes which are involved in tumorigenesis. Recently identified is a new syndrome consisting of multiple and recurrent PGLs or PHEOs, somatostatinoma, and congenital polycythemia, due to somatic hypoxia-inducible factor 2α gene (HIF2A) mutations.
METHODS AND RESULTS
PubMed and Web of Science online databases were used to search reviews and original articles on the HIF, PHEO/PGL, and Pacak-Zhuang syndrome.
CONCLUSIONS
The novel somatic and germline gain-of-function HIF2A mutations described latterly emphasize the role of the HIF-2α in the PHEO/PGL development and these findings designate HIF, especially HIF-2α, as a promising treatment target.
Topics: Basic Helix-Loop-Helix Transcription Factors; Carcinogenesis; Humans; Mutation; Paraganglioma; Polycythemia; Somatostatinoma; Syndrome
PubMed: 24781045
DOI: 10.5507/bp.2014.021