Results 101 to 110 of about 542,680 (355)

Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors.

open access: yesAmerican Journal of Kidney Diseases, 2012
BACKGROUND The presence of a few renal cysts is considered of little relevance in healthy adults, although acquired renal cystic disease occurs in advanced kidney failure.
A. Rule   +5 more
semanticscholar   +1 more source

A Case of Cystic Disease of the Kidney [PDF]

open access: yesThe Boston Medical and Surgical Journal, 1894
n ...
openaire   +3 more sources

Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hereditary hemorrhagic telangiectasia (HHT) is the second‐most common inherited bleeding disorder worldwide, afflicting one in 4000–5000 people, and is the most morbid inherited bleeding disorder of women. HHT causes recurrent severe epistaxis, chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations in the ...
Hanny Al‐Samkari   +5 more
wiley   +1 more source

Screening for microscopic hematuria in school-age children of the Gorgan city [PDF]

open access: yes, 2014
Screening for hematuria was carried out in 3000 school-age children (6 to14 years old) in Gorgan, Iran, using a fresh morning urine sample. At the initial step, 208 (6.8%) had positive dipstick tests for blood, which decreased to 35 (1.2%) at the second ...
Abbasi, A.   +5 more
core  

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

open access: yesOman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi   +6 more
doaj   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas   +2 more
wiley   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

open access: yes, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Not All Antibodies Are Created Equal: Factors That Influence Antibody Mediated Rejection. [PDF]

open access: yes, 2017
Consistent with Dr. Paul Terasaki's "humoral theory of rejection" numerous studies have shown that HLA antibodies can cause acute and chronic antibody mediated rejection (AMR) and decreased graft survival. New evidence also supports a role for antibodies
Butler, Carrie L   +3 more
core   +4 more sources

Visualizing Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm   +2 more
wiley   +1 more source

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