Search results
Results From The WOW.Com Content Network
X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia and involves a defect in ALAS2, [7] which is involved in the first step of heme synthesis. Although X-linked, approximately one third of patients are women due to skewed X-inactivation (lyonizations).
Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost, allowing the now uncapped ends to fuse together – thus forming a ring chromosome. It causes a number of serious health issues. [1] [3] [4]
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself. [5]
The primary cause is a deficiency of uroporphyrinogen decarboxylase (UROD), a cytosolic enzyme that is a step in the enzymatic pathway that leads to the synthesis of heme. Behind the direct cause there are a number of genetic and environmental risk factors.
Hematometra typically presents as cyclic, cramping pain in the midline of the pelvis or lower abdomen. [1] Patients may also report urinary frequency and urinary retention . [ 2 ] Premenopausal women with hematometra often experience abnormal vaginal bleeding, including dysmenorrhea (pain during menstruation ) or amenorrhea (lack of ...
Periodic neutropenia, cyclic leucopenia, cyclic hematopoesis: Blood film with a striking absence of neutrophils, leaving only red blood cells and platelets. Specialty: Hematology Symptoms: Fever, malaise, inflammation and infection of oral mucosa, respiratory tract, digestive tract, skin, and abdominal pain [1] Usual onset: Infancy [1] Causes
A heterocyclic compound or ring structure is a cyclic compound that has atoms of at least two different elements as members of its ring(s). [1] Heterocyclic organic chemistry is the branch of organic chemistry dealing with the synthesis, properties, and applications of organic heterocycles .