What is Nijmegen breakage syndrome?
Definition Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Is an elevated Nijmegen Questionnaire score considered abnormal?
Both studies basically offer evidence that an elevated Nijmegen Questionnaire score is “abnormal”. The Nijmegen Questionnaire is therefore a valid screening tool to detect patients across several medical specialties for whom the complaints may not be (fully) due to physiological abnormality.
Does the Nijmegen Questionnaire predict hyperventilation syndrome?
In later studies, the correlation between Nijmegen Questionnaire scores and carbon dioxide tensions appeared highly variable. The diagnosis of hyperventilation syndrome (HVS) was questioned and slowly disappeared.
Is the Nijmegen Questionnaire copyrighted?
We would like to formally declare here that the Nijmegen Questionnaire is not copyrighted and is free to use. It has been or will be translated, as far as we know, into Greek, Farsi, Finnish, Norwegian, Swedish, Spanish, Filipino and Chinese.
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
What is the name of the disease that makes you look younger?
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood.
What is Amish brittle hair syndrome?
BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited disease. It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.
How is the family of a person with Bloom syndrome affected?
This means that to be affected with Bloom syndrome, a person receives one mutated gene copy from his or her mother and one mutated gene copy from his or her father. The risk for two carrier parents to both pass down the disease-causing gene and therefore to have an affected child is 25% with each pregnancy.
What happened in Nijmegen in 1981?
On 23 February 1981, the Nijmegen police department and the Dutch Army stormed the Piersonstraat and Zeigelhof, a squatted housing block in the city centre of Nijmegen.
What is the Nijmegen municipality?
The municipality is formed by the city of Nijmegen, incorporating the former villages of Hatert, Hees and Neerbosch, as well as the urban expansion project of Waalsprong, situated north of the river Waal and including the village of Lent and the hamlet of ‘t Zand, as well as the new suburbs of Nijmegen-Oosterhout and Nijmegen–Ressen .
What is the climate like in Nijmegen?
Climate. Nijmegen is one of the warmest cities of the Netherlands, especially during summer, when the highest temperatures in the country are usually measured in the triangle Roermond – Nijmegen – Eindhoven. The lack of north-south oriented mountain ranges in Europe make this area prone to sudden shifts in weather,…
What is the difference between Nijmegen syndrome and Berlin Syndrome?
The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer.
What are the treatment options for nephrotic syndrome (NBS)?
In the treatment of malignancies, radiation therapy, alkylating antineoplastic agents, and epipodophyllotoxins are not used, and methotrexate can be used only with caution; the dose should be limited. Bone marrow transplants and hematopoietic stem cell transplants are also considered in the treatment of NBS.