Syndromes deficiency diseases. Medical search. Frequent questions

Studies of the effects of illicit drug use on HIV disease progression before widespread use of highly active antiretroviral therapy (HAART) have shown an independent association between drug use with mortality and diagnosis of AIDS, 6 whereas others found an association with the development of AIDS-defining illnesses but failed to find a relationship with mortality or specific effects on CD4 cell percentage. (lww.com)
If HIV is not treated, it can lead to AIDS (acquired immunodeficiency syndrome). (nih.gov)
Persons with acquired immune deficiency syndrome (AIDS) employed in health care or clinical laboratory settings numbered 1,875 in July 1987, or 5.8 percent of the 32,395 adults with AIDS. (cdc.gov)
Being HIV-positive, or having HIV disease, is not the same as having AIDS. (erlc.com)
In 1982, CDC called the new disease acquired immune deficiency syndrome, or AIDS. (eurasiareview.com)
This time it was a teenager from Indiana, named Ryan White, whose AIDS disease affected his school life. (eurasiareview.com)
Infection leads to acquired immunodeficiency syndrome (AIDS) with a broad spectrum of opportunistic infections. (nih.gov)
Acquired Immune Deficiency Syndrome (AIDS) is the last stage of HIV disease. (nebraskamed.com)
The disease became known as autoimmune deficiency syndrome, or AIDS. (doctorshealthpress.com)
Human Immunodeficiency Virus (HIV), Acquired Immuno Deficiency Syndrome (AIDS), and Sexually Transmitted Disease(s) (STD) resources in Maine. (abilitymaine.org)
Acquired Immune Deficiency Syndrome (AIDS) is a relatively new disease which makes the body vulnerable to rare diseases. (theinterim.com)
The U.S. Center for Disease control in Atlanta claims that up to one million Americans have been exposed to or infected with AIDS). (theinterim.com)
Health officials believe the spread of the disease may be prevented if certain steps are taken - avoiding sexual contact with persons suspected to have AIDS, avoiding sexual contact with multiple partners, refraining from giving blood if you may have AIDS, using caution when handling hypodermic needles and ordering blood transfusions only when medically necessary. (theinterim.com)
It only confuses people more to say that AIDS is a serious health threat and then say few Canadians are at risk of catching the disease. (theinterim.com)

GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. (medlineplus.gov)
Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. (medlineplus.gov)
Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size ( microcephaly ). (medlineplus.gov)
People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. (medlineplus.gov)
About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. (medlineplus.gov)
Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. (medlineplus.gov)
GLUT1 deficiency syndrome is a rare disorder. (medlineplus.gov)
GLUT1 deficiency syndrome is caused by variants (also known as mutations) in the SLC2A1 gene. (medlineplus.gov)

3. WHIM syndrome: congenital immune deficiency disease. (nih.gov)

Growth hormone deficiency can be total or partial. (targetwoman.com)
Growth hormone deficiency is treated with growth hormone injections. (targetwoman.com)

CARD9 deficiency is a genetic immune disorder characterized by susceptibility to fungal infections like candidiasis, which is caused by the yeast fungus Candida . (nih.gov)
CARD9 deficiency, an autosomal recessive disorder , differs from many other genetic immune disorders that cause fungal infections. (nih.gov)
The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. (nih.gov)
Parkinson's disease (PD) is a type of movement disorder . (medlineplus.gov)
Complex disorder or mitochondrial disease comprises a steadily growing group of genetically and clinically heterogenous enzyme-complex defects characterized by altered energy metabolism (mitochondrial oxidative phosphorylation) and a wide range of neurological, cardiac, muscular, and endocrine disorders. (mhmedical.com)
Kearns-Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. (wikipedia.org)
Glucose 6‐phosphate dehydrogenase (G6DP) deficiency is an X-linked enzymatic disorder that affects 400 million persons worldwide and has a high prevalence (5%-20%) in African and Asian populations ( 2 ). (cdc.gov)
DOCK8 deficiency is a rare immune disorder named after the mutated gene responsible for the disease. (nih.gov)
17. CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. (nih.gov)
In the second portion of the Rare Disease Report: CDKL5 podcast, Elia Pestana Knight, MD, a pediatric epileptologist shares her clinical expertise on CDKL5 deficiency disorder (CDD). (hcplive.com)
In the second portion of the Rare Disease Report: CDKL5 podcast , Elia Pestana Knight, MD, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute shared her clinical expertise by discussing the details of the condition, the current methods of treatment, and how to differentiate CDKL5 deficiency disorder (CDD) from general epilepsy. (hcplive.com)
While Restless Leg Syndrome (RLS) may sound like a Monty Python sketch, one in 10 Irish people is affected by various degrees of the disorder. (irishtimes.com)
Restless Leg Syndrome (RLS) is a movement disorder that affects one in 10 Irish people. (irishtimes.com)
The information contained herein is for information purposes only and is not to be construed as a diagnosis, treatment, preventive, or cure for any disease, disorder, or abnormal physical state, nor should it be considered a substitute for medical care from your doctor. (doctorshealthpress.com)

Acquired forms of CR1 deficiency have been associated with autoimmune disorders, such as systemic lupus erythematosus , hemodialysis in patients with diabetic nephropathy, and preeclampsia . (medscape.com)
citation needed] Kearns-Sayre patients are consistently found to have cerebral folate deficiency, a syndrome in which 5-MTHF levels are decreased in the cerebrospinal fluid despite being normal in serum. (wikipedia.org)
Because of the risks of severe morbidity and death, effective antibiotics should be administered promptly to patients suspected of having meningococcal disease. (cdc.gov)
Household or close contacts of case patients are at the highest risk for developing meningococcal disease. (cdc.gov)
Clinicians should consider complement testing in patients with meningococcal disease. (cdc.gov)
In addition, recurrent disease may occur for patients with complement deficiency. (cdc.gov)
Clinicians should offer vaccination to those patients found to have a complement deficiency. (cdc.gov)
Recent data suggest that meningococcal vaccines likely provide incomplete protection against invasive meningococcal disease in patients receiving eculizumab. (cdc.gov)
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been documented to cause vasoocclusive crisis and acute chest syndrome in patients with sickle cell anemia ( 1 ). (cdc.gov)
PROMACTA is not indicated for the treatment of patients with myelodysplastic syndrome (MDS). (nih.gov)
Portal vein thrombosis has been reported in patients with chronic liver disease receiving PROMACTA. (nih.gov)
7. Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies. (nih.gov)
10. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. (nih.gov)
11. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. (nih.gov)
His legal battle drew national attention towards the disease and manufacture of social myths around the patients of this virus. (eurasiareview.com)
Moreover, several studies have shown high levels of oxidative stress markers in FM patients, suggesting that this process may have a role in the pathophysiology of this disease. (fmaware.org)
Physical examination helps in the diagnosis of specific epileptic syndromes that cause abnormal findings, such as dermatologic abnormalities (eg, patients with intractable generalized tonic-clonic seizures for years are likely to have injuries requiring stitches). (medscape.com)
Not all patients with these diseases require a transplant. (bmtinfonet.org)
In consequence, high copeptin is an independent risk factor for cardiovascular disease and premature mortality in both diabetes patients and in the general population. (karger.com)
Patients with a history of postpartum hemorrhage requiring blood transfusion who subsequently present with lethargy, anorexia, and inability to lactate should be evaluated for Sheehan syndrome secondary to pituitary necrosis. (medscape.com)
Patients with Kallmann syndrome are also affected by either anosmia or severe hyposmia. (medscape.com)
A recent study involving a group of patients with IBD (inflammatory bowel disease) found a link between inadequate vitamin D levels and lower bone mineral density. (fightingfatigue.org)
Hypogammaglobulinaemia was the diagnosis usually given to patients with low serum immunoglobulin concentrations without an identifiable cause, b t these patients are more accurately described as having primary antibody deficiency. (bmj.com)
Untreated patients with unrecognised primary antibody deficiencies suffer from recurrent infections, some of which may be severe - for example, pneumonia and meningitis. (bmj.com)
According to Swedish data on prevalence, 8 there should be around 2500 such patients in the United Kingdom, 9 but the British register for primary immune deficiencies currently records less than 1000 such patients. (bmj.com)

Rh deficiency syndrome is inherited in an autosomal recessive manner. (nih.gov)
The syndrome formerly was known as autosomal recessive hyper-IgE syndrome, or AR-HIES. (nih.gov)
Gaucher disease is inherited in an autosomal recessive manner. (medicinenet.com)
Gaucher disease is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the defective gene in order for a child to be affected. (medicinenet.com)

Of the 8 plasma membrane receptors for complement, only deficiencies of CR3 and CR4 due to CD18 deficiency have been described, known as leukocyte adhesion deficiency (LAD) type 1 . (medscape.com)

Gaucher disease (sometimes called Gaucher's disease) is an inherited condition that results in the abnormal accumulation of fatty substances known as glycolipids in different body tissues due to a deficiency of an enzyme known as glucocerebrosidase. (medicinenet.com)

13. WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. (nih.gov)

The effects of specific illicit drugs on HIV disease progression have not been established. (lww.com)
We evaluated the relationship between substances of abuse and HIV disease progression in a cohort of HIV-1-positive active drug users. (lww.com)
Crack-cocaine use facilitates HIV disease progression by reducing adherence in those on HAART and by accelerating disease progression independently of HAART. (lww.com)
Increased Risk of Death and Progression of Myelodysplastic Syndromes to Acute Myeloid Leukemia. (nih.gov)
Progression of non-alcoholic fatty liver disease (NAFLD) in the context of metabolic syndrome (MetS) is only partially explored due to the lack of preclinical models. (portlandpress.com)
It has been hypothesized that oxidative stress is linked to both the initiation and the progression of neurodegenerative disorders such as Parkinsons, Alzheimers, and Huntingtons diseases. (fmaware.org)

We report a case of intravascular hemolysis and methemoglobinemia, precipitated by severe acute respiratory syndrome coronavirus 2 infection, in a patient with undiagnosed glucose-6-phosphate dehydrogenase deficiency. (cdc.gov)
Coronavirus disease is a novel infectious disease that primarily manifests as an acute respiratory syndrome but can also cause multiorgan dysfunction. (cdc.gov)
During the last 15 years, with the development of next-generation sequencing (NGS), familial predisposition has emerged as an important issue in hematology, with the identification of recurrent mutated genes leading to myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). (haematologica.org)
Acute coronary syndrome 27. (muni.cz)

Centers for Disease Control and Prevention. (cdc.gov)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)

KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). (wikipedia.org)
By year's end, 337 cases of severe immune deficiency are reported in the United States. (eurasiareview.com)
Type 2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease. (medicinenet.com)
Type 2 Gaucher disease is very severe and typically leads to life-threatening medical problems that begin in infancy. (medicinenet.com)
However, mutations in both genomes can cause a heterogeneous group of disorders, known as mitochondrial diseases, which are characterized by severe metabolic and neurological defects. (frontiersin.org)

[ 2 ] CR1 deficiency may partly account for the increased likelihood of infection reported in thesepatients.Recombinanterythropoietin(rEPO)hasbeenreportedtoincreaseerythrocyteCR1levels. (medscape.com)
NIAID researchers have described the crucial role of CARD9 in recruiting infection-fighting neutrophils to the CNS during fungal infection, helping explain why people with CARD9 deficiency are highly susceptible to fungal CNS infections. (nih.gov)
The infection causes the disease that makes you sick. (nih.gov)
G6DP deficiency increases the risk for intravascular hemolysis upon exposure to oxidative agents, such as fava beans, sulfonamides, and hydroxychloroquine, the subject of clinical trials for persons with SARS-CoV-2 infection. (cdc.gov)
Testing of patient with G6PD deficiency and SARS-CoV-2 infection, United Kingdom. (cdc.gov)

RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
Women who carry a variation of the gene for Fragile X syndrome are at higher risk for Fragile X-Associated POI (FXPOI) . (nih.gov)
Instead, they have a change or mutation in the same gene that causes Fragile X syndrome, and this change is linked to FXPOI. (nih.gov)
If there is a deficiency of Vitamin D, this gene may not function properly. (fightingfatigue.org)
In people with an inherited syndrome, a changed (mutated) gene is passed down through the family. (limamemorial.org)
Gaucher disease is due to a genetic defect in a gene known as GBA1. (medicinenet.com)

When Do Symptoms of Rh deficiency syndrome Begin? (nih.gov)
The types of symptoms experienced, and their intensity, may vary among people with this disease. (nih.gov)
As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. (medlineplus.gov)
The symptoms associated with mitochondrial disease are primarily due to a lack of energy in tissues and thus organs with the highest energy requirements suffer first and foremost. (mhmedical.com)
Although NIH and other studies estimate occurrence in the population to be 1-3 and some as high as 9 in 100,000 individuals but a failure to be referred to specialist centres and recognise the disease symptoms is common KSS is the result of deletions in mitochondrial DNA (mtDNA) that cause a particular constellation of medical signs and symptoms. (wikipedia.org)
For detailed information about the cause of DOCK8 deficiency and its inheritance pattern, signs, symptoms and treatment, as well as coping strategies for affected families, please read this fact sheet . (nih.gov)
In 1981, men with symptoms of a unknown disease were first treated in Los Angeles and New York. (doctorshealthpress.com)
Signs and symptoms vary among people with Gaucher disease. (medicinenet.com)
What are the signs and symptoms of Gaucher disease? (medicinenet.com)
Symptoms of Addison's disease include weight loss, loss of appetite and fatigue. (targetwoman.com)

MBL deficiency manifests as increased susceptibility to polysaccharide-encapsulated bacteria, with subsequent recurrent respiratory tract infections, abscesses, sepsis , and meningitis. (medscape.com)

Most genetic immune disorders cause either CMC or systemic candidiasis, but people with CARD9 deficiency experience both CMC and systemic candidiasis. (nih.gov)
The firm rapidly develops setmelanotide for rare genetic disorders of obesity caused by MC4 pathway deficiencies and provides advance setmelanotide for POMC deficiency obesity and LEPR deficiency obesity as first indications in upstream MC4 pathway deficiencies. (businessinsider.com)

These problems include immunodeficiency diseases. (nih.gov)
If you have an immunodeficiency disease, you get sick more often. (nih.gov)
2. Adaptive Immunodeficiency in WHIM Syndrome. (nih.gov)
Requirement for education on human immunodeficiency virus, acquired immune deficiency syndrome, and other communicable diseases. (flsenate.gov)
Acronym for acquired immune deficiency syndrome, a fatal disease caused by the human immunodeficiency virus, or HIV. (mylot.com)

To learn more about CARD9 deficiency and other syndromes of susceptibility to candidiasis, visit the National Library of Medicine, Genetics Home Reference familial candidiasis site . (nih.gov)

This convinces scientists that an infectious agent in contaminated blood spreads the disease. (eurasiareview.com)
In line with U.S. federal law, public and private cord blood banks are required to test the infant mother's blood for infectious disease. (benzinga.com)
Usually, infectious disease screening is more rigorous in public banks. (benzinga.com)
DR. SIBERRY is an assistant professor of pediatrics in the divisions of general pediatric and adolescent medicine and pediatric infectious diseases at Johns Hopkins Hospital, Baltimore. (contemporarypediatrics.com)
Formerly, negative pressure isolation room, an AIIR is a single-occupancy patient-care room used to isolate persons with a suspected or confirmed airborne infectious disease. (cdc.gov)

The process of getting a rare disease diagnosis can take several years. (nih.gov)
8. [WHIM syndrome: presumptive diagnosis based on myelokathexis on bone marrow smear]. (nih.gov)
Diagnostic next-generation sequencing has identified three unrelated pediatric subjects, each with a clinical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8. (nih.gov)
In this first episode of the Rare Disease Report: CDKL5 , Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah's diagnosis. (hcplive.com)
Video-EEG monitoring is the standard test for classifying the type of seizure or syndrome or to diagnose pseudoseizures (ie, to establish a definitive diagnosis of spells with impairment of consciousness). (medscape.com)
Selection of an anticonvulsant medication depends on an accurate diagnosis of the epileptic syndrome. (medscape.com)
The diagnosis of a primary antibody deficiency is often overlooked in both children and adults. (bmj.com)
Immunoglobulin replacement therapy obviates most of these complications 7 - primary antibody deficiency is a costly diagnosis to miss. (bmj.com)

Objectives: Iron deficiency anemia (IDA) engenders restless legs syndrome (RLS, aka Willis-Ekbom disease). (johnshopkins.edu)
12.5 g/dl) suggesting a failure of adequate treatment of the iron deficiency. (johnshopkins.edu)
For people who develop Restless Leg Syndrome in later life, there may be an underlying cause, such as iron deficiency or kidney disease. (irishtimes.com)

Meningococcal disease is often the first sign that a person has complement deficiency, which is a hereditary condition. (cdc.gov)

If warranted, genetic testing can confirm the presence of mutations associated with these infections, like CARD9 deficiency. (nih.gov)

Together they help the body fight infections and other diseases. (nih.gov)
When the DOCK8 protein is mutated, immune cells cannot reach and clear viral infections in the skin, likely accounting for the distinct skin infections seen in people with DOCK8 deficiency. (nih.gov)
4. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. (nih.gov)
15. Clinical and Hematologic Effects of Endotoxin in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome Model Mice. (nih.gov)
18. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. (nih.gov)
Autoimmune diseases, viral infections, chemotherapy, and other treatments also may put a woman at higher risk of POI. (nih.gov)

and deficiencies in STAT1, STAT3 and DOCK8 . (nih.gov)
NIAID researchers discovered the cause of DOCK8 deficiency in 2009. (nih.gov)
People with DOCK8 deficiency also typically have allergies, asthma, and an increased risk for some types of cancer. (nih.gov)
DOCK8 deficiency is associated with very high levels of an antibody called immunoglobulin E, or IgE. (nih.gov)
DOCK8 deficiency is one of many hyper-IgE syndromes. (nih.gov)
Watch a video on DOCK8 deficiency research at NIAID. (nih.gov)
To learn more about managing DOCK8 deficiency in adolescents, please read DOCK8 Deficiency: A Guide for Adolescents . (nih.gov)

Questions about rare diseases? (nih.gov)
Many rare diseases have limited information. (nih.gov)

75 candidate disease-associated genes having been reported to date. (nih.gov)
Click on a disease name to see all genes associated with that disease. (jax.org)

Alka M. Kanaya Background/Aims: Asian Indians have a high prevalence of vitamin D deficiency and metabolic syndrome. (karger.com)

that increased plasma copeptin concentration independently predicts the development of both CKD and other specified kidney diseases. (karger.com)
The most common conditions that can cause parathyroid hyperplasia are chronic kidney disease and chronic vitamin D deficiency. (limamemorial.org)
If parathyroid hyperplasia is due to kidney disease or low vitamin D level and it is found early, your provider may recommend that you take vitamin D, vitamin D-like drugs, and other medicines. (limamemorial.org)
A Health Insurance Program for people 65 years of age and older, some disabled people under 65 years of age, and people with End-Stage Renal Disease (permanent kidney failure treated with dialysis or a transplant). (abilitymaine.org)

Persistent complement component deficiencies (e.g. (cdc.gov)
People who receive complement inhibitors (e.g., eculizumab [Soliris®], ravulizumab [Ultomiris™]) are also at increased risk for meningococcal disease. (cdc.gov)

Clinicians should be aware of this complication of coronavirus disease as a cause of error in pulse oximetry and a potential risk for drug-induced hemolysis. (cdc.gov)

Synaptic plasticity deficits and mild memory impairments in mouse models of chronic granulomatous disease. (colorado.edu)

She is the co-author of the book "Thiamine Deficiency Disease, Dysautonomia, and High Calorie Malnutrition" and the author of over 200 articles on various topics, from women's health and hormones, medication reactions, to mitochondrial function and dysfunction. (betterhealthguy.com)

citation needed] The first symptom of this disease is a unilateral ptosis, or difficulty opening the eyelids, that gradually progresses to a bilateral ptosis. (wikipedia.org)

It focuses on the treatment for Prader-Willi Syndrome and Pro-Opiomelanocortin deficiency obesity. (businessinsider.com)

Rhythm Pharmaceuticals, Inc. develops and commercializes peptide therapeutics for the treatment of gastrointestinal diseases and genetic deficiencies. (businessinsider.com)

The proposed cause of cerebral folate deficiency in the Kearns-Sayre syndrome is the failure of the mechanisms in the choroid plexus that are responsible for passage of folates from the serum to the cerebrospinal fluid. (wikipedia.org)

Vitamin D deficiency is associated with an increased risk of cardiovascular disease and diabetes. (karger.com)

CARD9 is required for anti-fungal responses in both innate and adaptive immune cells, explaining why people with this deficiency experience both conditions. (nih.gov)
Many people with CARD9 deficiency develop systemic candidiasis that targets the central nervous system, or CNS. (nih.gov)
About 10 to 15 in 100 people with meningococcal disease will die. (cdc.gov)
People with meningococcal disease and those who carry the bacteria asymptomatically in the nasopharynx can spread the bacteria. (cdc.gov)
In addition, people with certain medical conditions are at increased risk for meningococcal disease. (cdc.gov)
These nutritional deficiencies lead to health problems in people with abetalipoproteinemia. (nih.gov)
People with this syndrome have lower-than-normal numbers of immune cells, which have a diminished capacity to move through dense tissues like the skin. (nih.gov)
HIV and other sexually transmitted diseases are burgeoning health problems in Kazakhstan among people who inject heroin and practice unprotected sex. (nih.gov)
Studies show that people with a higher sodium-potassium ratio have a higher risk of heart disease and all-cause mortality. (mountsinai.org)
People with IBD (ulcerative colitis or Crohn disease) often have trouble absorbing nutrients from their intestines, and may have low levels of potassium and other important nutrients. (mountsinai.org)
Medical records research - uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best. (mayo.edu)
Through my site meter, I have been noticing that a lot of searches are coming through for people looking for information on Vitamin D & Vitamin D deficiency. (fightingfatigue.org)
Gaucher disease is most common in people of Ashkenazi Jewish descent, affecting about 1 out of every 855 people. (medicinenet.com)
In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people. (medicinenet.com)
People with type 1 Gaucher disease usually first notice painless enlargement of the spleen, anemia, or bleeding and bruising due to low platelet count . (medicinenet.com)
In people of Ashkenazi Jewish descent Type 1 Gaucher disease (see below) is more common, and affects 1 out of every 855 people. (medicinenet.com)
About 1 out of every 15 people of Ashkenazi Jewish descent are thought to be carriers of the genetic mutation responsible for Gaucher disease. (medicinenet.com)
The other types of Gaucher disease do not occur more frequently in people of Ashkenazi Jewish heritage. (medicinenet.com)
Another U.S. study conducted in April suggested that all people should be vaccinated against the disease - when such a vaccine is developed. (theinterim.com)

Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. (nih.gov)

Be informed of a few endocrine diseases such as those of the thyroid, pituitary or pancreas. (targetwoman.com)
A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation. (nel.edu)
Li J, Jia H, Chakraborty A, Gao Z. A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation. (nel.edu)

The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. (nih.gov)

A a study published in the May 1st issue of the American Journal of Respiratory and Critical Care Medicine has revealed some new information on a possible link between vitamin D deficiency and allergy & asthma severity. (fightingfatigue.org)

What Is Parkinson's Disease? (medlineplus.gov)
Essential Tremor vs. Parkinson's Disease: How Do They Differ? (medlineplus.gov)
One is medication, and generally what is prescribed is similar to the type of products used in treating Parkinson's disease. (irishtimes.com)

In 2019, there were about 375 total cases of meningococcal disease reported (incidence rate of 0.11 cases per 100,000 persons). (cdc.gov)

If you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. (nih.gov)

This report serves to expand the genetic heterogeneity associated with Leigh syndrome and to validate the clinical utility of orphan protein characterization. (nih.gov)
Specific somatic alterations, potentially providing distinct selective advantages to affected cells, are therefore associated with the clinical/hematological evolution of GATA2 syndrome. (haematologica.org)

According Knight the disease was unknown prior to 2003, but quickly claimed its place in epilepsy care due to the similar characteristics and time of presentation. (hcplive.com)

The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. (nih.gov)

If antimicrobial agents other than ceftriaxone or cefotaxime are used for treatment of meningococcal disease, eradication of nasopharyngeal carriage with rifampin (4 doses over 2 days) or single doses of ciprofloxacin or ceftriaxone are recommended prior to discharge from the hospital. (cdc.gov)
16. WHIM syndrome: Immunopathogenesis, treatment and cure strategies. (nih.gov)
This technique is also used to characterize the type of seizure and epileptic syndrome to optimize pharmacologic treatment and for presurgical workup. (medscape.com)
There are more than 100 diseases for which a bone marrow, stem cell or cord blood transplant may be a treatment option. (bmtinfonet.org)
Enzyme replacement therapy (ERT) is the main treatment for Gaucher disease. (medicinenet.com)
Chronic forms of ischemic heart disease (signs and symptomps, treatment) 16. (muni.cz)

Organisms3

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