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Hereditary persistence of hemoglobin F is protective against red cell sickling. A case report and brief review

We describe a case of SCD, in which a patient with high HbF level presented at a very late age (27 years old). We presume the patient’s inherently elevated HbF levels were able to compensate for the hypoxic episodes associated with SCD. The onset of symptoms was delayed as a result of elevated HbF levels.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research

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Abstract Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta-tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like g...
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research
In this report, we describe the first case, to our knowledge, of congenital Zika syndrome with concomitant critical congenital heart disease. The mother had a confirmed ZIKV infection in the first trimester of pregnancy. Fetal ultrasonography at 31 weeks of gestation revealed cerebral cortical calcifications and hypoplastic left heart syndrome. The severity of brain involvement was assessed by postnatal magnetic resonance imaging and echocardiogram, and palliative surgery was performed. The ethical dimensions of this infant's clinical management are discussed. ZIKV is known to affect neural progenitor cells, but whether it...
Source: Neonatology - Category: Perinatology & Neonatology Source Type: research
Exercise and a healthful diet during pregnancy may help to lower the risk of heart problems in newborns, one expert advises.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Pregnancy and Childbirth Babies and Infants Diabetes Diet and Nutrition Source Type: news
(Stanford University Medical Center) Higher blood sugar early in pregnancy raises the baby's risk of a congenital heart defect, even among mothers who do not have diabetes, according to a study led by researchers at the Stanford University School of Medicine.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Conclusions:This pilot study provides evidence of the feasibility and preliminary efficacy of the SIP-AP intervention for reducing symptoms and improving sleep of antepartum patients during hospitalization. Further detailed evaluation of specific components of this protocol is warranted, and other types of hospitalized patients may benefit from unit-based modifications to this SIP-AP protocol.Citation:Lee KA, Gay CL. Improving sleep for hospitalized antepartum patients: a non-randomized controlled pilot study.J Clin Sleep Med. 2017;13(12):1445–1453.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
The population of stem cells that supports muscle tissue is one of the better studied classes of such cell. Stem cells enable tissue maintenance and regeneration by delivering a supply of new daughter somatic cells that can multiple to make up losses, and through signaling that alters cell behavior. This activity declines with advancing age, however, with stem cells spending ever more of their time in a quiescent state. This is thought to be a response to rising levels of cell damage and tissue dysfunction, behavior that evolved because it serves to reduce the risk of cancer over a period in which our ancestors were under ...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
Ribosomal protein S15a promotes tumor angiogenesis via enhancing Wnt/β-catenin-induced FGF18 expression in hepatocellular carcinomaRibosomal protein S15a promotes tumor angiogenesis via enhancing Wnt/β-catenin-induced FGF18 expression in hepatocellular carcinoma, Published online: 15 December 2017; doi:10.1038/s41388-017-0017-yRibosomal protein S15a promotes tumor angiogenesis via enhancing Wnt/β-catenin-induced FGF18 expression in hepatocellular carcinoma
Source: Oncogene - Category: Cancer & Oncology Authors: Source Type: research
Mismatched unrelated donor allogeneic stem cell transplant for high risk haematological malignancy: A single centre experience, Published online: 15 December 2017; doi:10.1038/s41408-017-0012-0Mismatched unrelated donor allogeneic stem cell transplant for high risk haematological malignancy: A single centre experience
Source: Blood Cancer Journal - Category: Hematology Authors: Source Type: research
Anemia in myelofibrosis—prevalence, the U2AF1 connection, new treatmentsAnemia in myelofibrosis—prevalence, the U2AF1 connection, new treatments, Published online: 15 December 2017; doi:10.1038/s41408-017-0032-9Anemia in myelofibrosis—prevalence, the U2AF1 connection, new treatments
Source: Blood Cancer Journal - Category: Hematology Authors: Source Type: research
Publication date: Available online 14 December 2017 Source:Journal of Minimally Invasive Gynecology Author(s): Aviad Cohen, Benny Almog, Togas Tulandi The presence of hydrosalpinx has been shown to impair the outcome of in-vitro fertilization (IVF) treatment. This outcome can be improved by removal of the hydrosalpinx; however, there are some concerns regarding its feasibility and safety especially in women with previous surgeries and dense adhesions. The purpose of our meta-analysis was to evaluate the efficacy of hydrosalpinx aspiration with or without sclerotherapy on the risk of recurrence and on the IVF outcome as co...
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
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