Diseases

Non-Hodgkin’s lymphoma- during pregnancy

Non-Hodgkin's lymphoma, during pregnancy: A cancer that originates in the lymphatic system and occurs during pregnancy. The greatest problem is the fact that the cancer is usually quite aggressive and delays in delivery often results in delayed treatment and a poor prognosisThere are different types of treatment for pregnant patients with non-Hodgkin lymphoma. Different types of treatment are available for pregnant patients with non-Hodgkin lymphoma. Treatment is carefully chosen to protect the fetus. Treatment decisions are based on the mother’s wishes, the stage of the non-Hodgkin lymphoma, and the age of the fetus. The treatment plan may change as the symptoms, cancer, and pregnancy change. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. Three types of standard treatment are used: Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells. There are two types of radiation therapy. External radiation therapy uses a machine outside the body to send radiation toward the cancer. Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. To avoid any risk to the fetus, radiation therapy should be postponed until after delivery, if possible. If immediate treatment is needed, pregnant women with non-Hodgkin lymphoma may decide to continue the pregnancy and receive radiation therapy. However, lead used to shield the fetus may not protect it from scattered radiation that could possibly cause cancer in the future. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the spinal column, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment with more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. The fetus is exposed to chemotherapy when the mother is treated and some anticancer drugs cause birth defects. Because anticancer drugs are passed to the fetus through the mother, both must be watched closely when chemotherapy is given. Watchful waiting Watchful waiting is closely monitoring a patient’s condition without giving any treatment until symptoms appear or change. Treatment of Non-Hodgkin Lymphoma During Pregnancy See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information on the treatment of non-Hodgkin lymphoma. Aggressive Non-Hodgkin Lymphoma During the First Trimester of Pregnancy When aggressive non-Hodgkin lymphoma is diagnosed in the first trimester of pregnancy, medical oncologists may advise the patient to end her pregnancy so that treatment may begin. Treatment is usually chemotherapy with or without radiation therapy. Aggressive Non-Hodgkin Lymphoma During the Second and Third Trimester of Pregnancy When possible, treatment should be postponed until after an early delivery, so that the fetus will not be exposed to anticancer drugs or radiation therapy. However, sometimes the cancer will need to be treated immediately in order to increase the mother's chance of survival. Indolent Non-Hodgkin Lymphoma During Pregnancy Women who have indolent (slow-growing) non-Hodgkin lymphoma can usually delay treatment with watchful waiting.

Non-lissencephalic cortical dysplasia

Non-lissencephalic cortical dysplasia: A brain development abnormality characterized by the development of small brain convolutions that generally cause mental retardation. Symptoms depend on the location and extent of the abnormality.

Non-small cell lung cancer

Non-small-cell lung carcinoma (NSCLC) is any type of epithelial lung cancer other than small cell lung carcinoma (SCLC). It includes squamous cell carcinoma, adenocarcinoma and large cell carcinoma. As a class, NSCLCs are relatively insensitive to chemotherapy, compared to small cell carcinoma. When possible, they are primarily treated by surgical resection with curative intent, although chemotherapy is increasingly being used both pre-operatively (neoadjuvant chemotherapy) and post-operatively (adjuvant chemotherapy).

Nondystrophic myotonia

The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability. It is characterized by a muscle disorder where the voluntary muscles are slow to relax after movement. The problem occurs intermittently and can sometimes be painful but no muscle wasting occurs. Many distinct clinical phenotypes are now recognized and range in severity from severe neonatal myotonia with respiratory compromise through to milder late-onset myotonic muscle stiffness. Specific genetic mutations in the major skeletal muscle voltage gated chloride channel gene and in the voltage gated sodium channel gene are causative in most patients.

The non-dystrophic myotonias are now known to be caused by dysfunction of key skeletal muscle ion channels and include myotonia congenita, paramyotonia congenita and the sodium channel myotonias.

Noninsulin-dependent diabetes mellitus with deafness

Noninsulin-dependent diabetes mellitus (NIDDM) with deafness, a rare disorder characterized by deafness associated with noninsulin-dependent diabetes mellitus. It has the following alternative name:

• diabetes and deafness, maternally inherited; MIDD

• Ballinger-Wallace syndrome

• diabetes mellitus, type II, with deafness

• noninsulin-dependent diabetes mellitus with deafness

• Diabetes mellitus and deafness (DAD)

Nonkeratan-sulfate-excreting Morquio syndrome

Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine

Nonne-Milroy disease

Nonne-Milroy disease: A rare form of lymphedema (dilation of the lymphatic system) which is present at birth and causes enlargement of various parts of the body

Nonseminomatous germ cell tumor

Germ cell tumors are broadly divided in two classes:[2] * The germinomatous or seminomatous germ cell tumors (GGCT, SGCT) include only germinoma and its synonyms dysgerminoma and seminoma. * The nongerminomatous or nonseminomatous germ cell tumors (NGGCT, NSGCT) include all other germ cell tumors, pure and mixed. The two classes reflect an important clinical difference. Compared to germinomatous tumors, nongerminomatous tumors tend to grow faster, have an earlier mean age at time of diagnosis (~25 years versus ~35 years, in the case of testicular cancers), and have a lower 5 year survival rate. The survival rate for germinomatous tumors is higher in part because these tumors are exquisitely sensitive to radiation, and they also respond well to chemotherapy. The prognosis for nongerminomatous has improved dramatically, however, due to the use of platinum-based chemotherapy regimens

Nonsyndromic hereditary sensorineural hearing loss

An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, we have begun to understand the fascinating biology of the auditory system and unveiled new molecular mechanisms of hearing impairment. Changes in the diagnostic impact of genetic testing have occurred, as well as exciting developments in therapeutic options. Molecular diagnosis, which is already a reality for several hearing-associated genes, will doubtlessly continue to increase in the near future, both in terms of the number of mutations tested and the spectrum of genes. Genetic analysis for hearing loss is mostly used for diagnosis and treatment, and relatively rarely for reproductive decisions, in contrast to other inherited disorders. Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large number of mutations, but specific mutations in a single gene may lead to syndromic or non-syndromic hearing loss. Some mutations predominate in individual ethnic groups. For clinical and laboratory diagnosticians, it is challenging to keep abreast of the unfolding discoveries. This review aims to provide the framework pertinent to diagnosticians and a practical approach to mutation analysis in the hearing impaired

Noonan like syndrome

A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.

Noonan syndrome

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in various ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved. Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development

There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people with Noonan syndrome.

Noonan syndrome 3

A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies

Norrie disease

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop. About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.

Norum disease

A rare genetic disorder characterized by an enzyme deficiency (lecithin:cholesterol acyltransferase) which impairs the breakdown of lipoproteins which then builds up and causes damage to tissues. The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure.

Notalgia paresthetica

A rare sensory nerve disorder involving the nerves radiating from the spine and characterized by areas of skin on the back that suffer itching, burning, lack of sensation and sometimes pigmentation

Nova syndrome

A very rare syndrome characterized mainly by a birth mark and brain abnormalities

Novak syndrome

A very rare syndrome characterized mainly underdeveloped lungs and by an abnormal opening in the area of the larynx, trachea and esophagus

Nuchal bleb- familial

A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.

NUT midline carcinoma

is a rare epithelial cancer that usually arises in the midline of the body and is characterized by a mutation in the nuclear protein in testis (NUT) gene. There are only 62 known cases with the tumor being refractory to conventional treatments, with a median survival of 6.7 months and an overall survival of 19% at 2 years.

Nystagmus 1- congenital- X- linked

A X-linked inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement

Nystagmus 2- congenital- autosomal dominant

A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement.

Nystagmus 3- congenital- autosomal dominant

A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement

Nystagmus 4- congenital- autosomal dominant

A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement. This form is also often associated with strabismus

Nystagmus- congenital motor- autosomal recessive

A recessively inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement

Nystagmus- myoclonic

Nystagmus, myoclonic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Nystagmus, myoclonic, or a subtype of Nystagmus, myoclonic, affects less than 200,000 people in the US population. Abnormal eye movements caused by the involuntary twitching of the muscles that control eye movement.

O Donnell Pappas syndrome

A rare eye disorder characterized by early onset of cataracts and an underdeveloped fovea which is responsible for seeing details such as is needed when reading