What Problems are Ciliopathies Associated With?

Discussion Nephronophthisis (NPHP) one cause of end-stage renal disease (ESRD) usually occurring before age 30 years. NPHP is a non-motile ciliopathy affecting cellular sensing in the renal tubular epithelium. See To Learn More below. The incidence varies according to location with 1:1 million in the US but 1:50,000 in Finland. There are 3 subtypes: Infantile Occurs usually within 1 year of life Enlarged kidneys and severe hypertension In utero can have oligohydramnios problems such as pulmonary hypoplasia, facial dysmorphisms, limb contractures Extra-renal problems include congenital heart disease, liver fibrosis, recurrent pulmonary infections Juvenile Most common Occurs generally by early adolescence (median age 13 years) Normal size or small kidneys, impaired concentrating and electrolyte abnormalities, chronic kidney disease, normal blood pressure Extra-renal problems include brain malformations (cerebellar vermis aplasia), retinal degeneration and gaze problems including ocular motor apraxia, liver fibrosis and skeletal defects Common presentations include poor growth, polydipsia, polyuria, and chronic iron-resistant anemia Adolescent Occurs by later adolescence Manifestations are similar to juvenile type Genetically there are many different genes associated with NPHP which are of autosomal recessive inheritance. Up to 80+% of individuals may have no extra-renal problems. NPHP is associated with other syndromes include Joubert syndrome, Oculomotor Apraxia (Co...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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A new analysis of data from the THALES trial separates out the reduction in ischemic events from the increase in bleeding events and shows the benefit outweighs the risk in a ratio of four-to-one.Medscape Medical News
Source: Medscape Internal Medicine Headlines - Category: Internal Medicine Tags: Neurology & Neurosurgery News Source Type: news
A VITAMIN B12 deficiency undoubtedly will lead to anaemia if left undiagnosed and untreated. This is because the nutrient is crucial to form healthy red blood cells, which are needed to transport oxygen around the body.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
In conclusion, PNH clones were infrequent in newly diagnosed HAAA, but their frequency increased to one that was similar to the IAA frequency during follow-up. These results suggest that the PNH clone selection/expansion process is dynamic and takes time to establish, confirming that retesting for PNH clones during follow-up is crucial.
Source: Annals of Hematology - Category: Hematology Source Type: research
AbstractBeta-thalassemia intermedia ( β-TI) is associated with vascular dysfunction. We used digital thermal monitoring (DTM), a non-invasive tool that evaluates vascular function based on changes in fingertip temperature during and after cuff occlusion on β-TI patients. Thirty-three patients (18 years and older) were recruited in th is study and divided into 3 groups: thalassemia, anemic controls, and healthy controls. Exclusion criteria included factors that are known to be associated with vascular damage. Patients underwent DTM and results were extracted as vascular reactivity index (VRI), a measure of ho...
Source: Annals of Hematology - Category: Hematology Source Type: research
AbstractAcute myeloid leukemia (AML) relapse after allogeneic stem cell transplant (alloSCT) remains a major therapeutic challenge. While patients with longer remission after initial alloSCT are recommended to receive cell therapy (CT) such as 2ndalloSCT or donor lymphocyte infusion (DLI), survival for patients who relapse within 6  months of alloSCT has been dismal. We evaluated the outcomes of AML relapse after alloSCT to assess the impact of different treatments on long-term survival. One hundred and seventy-two patients with AML underwent alloSCT at the Penn State Cancer Institute from January 2014 to August 2019....
Source: Annals of Hematology - Category: Hematology Source Type: research
There has been a lot of focus on early stage investigator (ESI) extension requests in the community recently. And we certainly understand why. The experience of the COVID-19 public health emergency has brought into sharp focus that the effects of the pandemic on careers and life in general may continue for years to come. This fact has led us to revisit our approach to granting ESI extension requests. In doing so, we would like to clarify an FAQ that stated that NIH will not approve ESI extensions that are requested during a previous extension period.  We understand that life does not happen sequentially, thus the FAQ ...
Source: NIH Extramural Nexus - Category: Research Authors: Tags: blog Open Mike Early Stage Investigator ESI ESI extension Source Type: funding
Children aged 6 to 11 had the most significant increases in rates of obesity, the AP reported.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Patients who have rare retinal diseases — as well as those with more common ones — may benefit from a surge in gene therapy research.Medscape Medical News
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Ophthalmology News Source Type: news
SICKLE cell disease is an inherited blood disorder where the red blood cells develop abnormally, forming a rigid crescent shape that is unable to supply adequate stores of oxygen around the body.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
AbstractNetwork models based on structural connectivity have been increasingly used as the blueprint for large-scale simulations of the human brain. As the nodes of this network are distributed through the cortex and interconnected by white matter pathways with different characteristics, modeling the associated conduction delays becomes important. The goal of this study is to estimate and characterize these delays directly from the brain structure. To achieve this, we leveraged microstructural measures from a combination of advanced magnetic resonance imaging acquisitions and computed the main determinants of conduction ve...
Source: Anatomy and Embryology - Category: Anatomy Source Type: research
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