Clinical difficulties of diagnostics of a syndrome of Prader–Willi

2013 ◽  
Vol 4 (2) ◽  
pp. 81-84
Author(s):  
Valentina Ivanovna Guzeva ◽  
Lyubov Borisovna Bessonova ◽  
Kristina Arturovna Seel
Keyword(s):  
Genetic Anomaly ◽  
Infantile Paralysis

Prader–Willi’s syndrome is a genetic anomaly which often masks under cerebral spastic infantile paralysis and myopathy diagnoses. Though at careful collecting the anamnesis, attentive survey of the patient and competent genetic inspection the diagnosis usually doesn’t raise doubts.

Umbilical Cord Stricture Is Not a Genetic Anomaly. A Study in Twins

2006 ◽  
Vol preprint (2007) ◽  
pp. 1
Author(s):  
José I. Rodríguez ◽  
Adrián Mariño-Enríquez ◽  
Judith Suárez-Aguado ◽  
Pablo Lapunzina
Keyword(s):  
Umbilical Cord ◽  
Genetic Anomaly

The Treatment of Infantile Paralysis

BMJ ◽  
1883 ◽  
Vol 1 (1150) ◽  
pp. 82-83 ◽  
Author(s):  
W. H. Barlow
Keyword(s):  
Infantile Paralysis

scholarly journals Genetic and epigenetic concept of SARS-CoV-2 targets in different renal cancer subtypes

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Dilara Fatma Akin-Bali ◽  
Rahşan Ilikci Sagkan
Keyword(s):  
Renal Cancer ◽  
Promoter Methylation ◽  
Target Genes ◽  
Expression Patterns ◽  
Rna Expression ◽  
Total Rate ◽  
Cancer Subtypes ◽  
Genetic Landscape ◽  
Healthy Control ◽  
Genetic Anomaly

AbstractObjectivesRecent advances in defining the genetic landscape of has shown the host cell- SARS-CoV-2 interaction via ACE2 protein and the presence of at least three additional virus invasion genes including TMPRSS2, FURIN, CD147/BSG. In current study, we investigated the mutation and m-RNA expression patterns of target genes by evaluating the associations between genetic and epigenetic mechanisms in the target genes and susceptibility of SARS-CoV-2 infection of renal cancer subtypes.MethodsWe investigated the mutation and m-RNA expression patterns of our target genes. The promoter methylation profiles of target genes were tested in the UALCAN database.ResultsThe total rate of carrying genetic anomaly in the target genes including was 1.6% and seven mutations, one of which had a pathogenic feature, were detected. The expression analysis results in renal cancer groups showed that while the KIRC and KIRP patients had a lower level of TMPRSS2 than the healthy control, their ACE2 level was high. KICH patients had a higher level of CD147/BSG expression than the healthy group. The promoter methylation levels of ACE2 in KIRC and KIRP were reduced.ConclusionsWe concluded that renal cancer patients may be more sensitive to SARS-CoV-2 infection, which may worsen the prognosis.

scholarly journals The Kenny Concept of Infantile Paralysis and Its Treatment

1943 ◽  
Vol 43 (7) ◽  
pp. 698
Author(s):  
Mary Macdonald ◽  
John F. Pohl ◽  
Elizabeth Kenny
Keyword(s):  
Infantile Paralysis

The Occurrence of Infantile Paralysis in Massachusetts in 1910

1911 ◽  
Vol 164 (21) ◽  
pp. 737-742
Author(s):  
ROBERT W. LOVETT ◽  
PHILIP A. E. SHEPPARD
Keyword(s):  
Infantile Paralysis

The Diagnosis and Clinical Manifestations of Activated Protein C Resistance: A Case Report and Review of the Literature

1996 ◽  
Vol 1 (4) ◽  
pp. 275-280 ◽  
Author(s):  
Howard Daniel Hoerl ◽  
Aldo Tabares ◽  
Kandice Kottke-Marchant
Keyword(s):  
Case Report ◽  
Protein C ◽  
Activated Protein C ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Laboratory Diagnosis ◽  
Factor V ◽  
Review Of The Literature ◽  
Activated Protein C Resistance ◽  
Genetic Anomaly

Activated protein C resistance (APCR) is a recently discovered, medically important cause of venous thrombosis. More than 95% of cases are due to factor V Leiden (FVL), a mutated form of factor V that is resistant to degradation by activated protein C. The prevalence of this disorder, which is inherited in an autosomal dominant fashion, is approximately 5% among asymptomatic people of European heritage. In addition, 20 to 60% of patient cohorts with previous thrombosis demonstrate APCR, making it the most common known genetic cause of abnormal thrombophilia. Current laboratory techniques available for diagnosis include functional assays, such as the APC ratio, as well as DNA-based tests that detect the specific genetic anomaly responsible for FVL. A case report is presented, along with a review of the literature highlighting epidemiology, pathogenesis, clinical features and methods for laboratory diagnosis.

Genetic anomaly and clinical history and its implication in paternity analysis

2016 ◽  
Vol 50 (1) ◽  
pp. 90-96 ◽  
Author(s):  
A. Serra ◽  
V. Lopes ◽  
F. Balsa ◽  
P. Brito ◽  
F. Corte-Real ◽  
...  
Keyword(s):  
Clinical History ◽  
Paternity Analysis ◽  
Genetic Anomaly

THE PRESIDENT'S PAGE

PEDIATRICS ◽  
1951 ◽  
Vol 8 (2) ◽  
pp. 275-276
Author(s):  
PAUL W. BEAVEN
Keyword(s):  
Public Health ◽  
New York ◽  
School Health ◽  
News Letter ◽  
American Hospital ◽  
American Hospital Association ◽  
Contagious Diseases ◽  
National Foundation ◽  
Health Laws ◽  
Infantile Paralysis

I AM SURE that the majority of our members are not aware of the influence of the Academy in public health and child welfare. For this reason I will recount some of the incidents that have occurred in the past few months which illustrate this. In May, Dr. Edward Davens, representing our Committee on School Health, went to a meeting in Washington arranged by the National Educational Association to examine the real meaning of citizenship in our country. Excerpts from his report will be published in the News Letter. Last January, Dr. Reginald Higgons attended a conference on school health in Cleveland, which he reported in full to the Executive Board and which will appear in the agenda of committees published in Pediatrics. I would commend this to anyone interested in school health work. In April, Dr. Stewart Clifford used the report of this same School Health Committee, of which Dr. Thomas Shaffer is Chairman, to modify the school health laws in Massachusetts to conform to its recommendations. If members in states are attempting to introduce modern practices in school health, they are referred to the central office. Dr. Christopherson will be glad to send them a copy of Dr. Shaffer's report. In February, Dr. Danis' Committee on Hospitals and Dispensaries sent representatives to a meeting in New York, called to discuss the care of contagious diseases in a general hospital. This group represented many organizations, including the American Public Health Association, the American Medical Association, the American Hospital Association, the American Nursing Association, and others. It was financed by the National Foundation for Infantile Paralysis.

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