Fumarate Hydratase
Vascular Neoplasms
Leiomyoma
Neoplastic Syndromes, Hereditary
Prurigo
Vena Cava, Inferior
Heart Neoplasms
Leiomyosarcoma
Stomach Volvulus
Carcinoma, Renal Cell
Nephritis, Hereditary
Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis. (1/113)
X-linked Alport syndrome is a progressive nephropathy associated with mutations in the COL4A5 gene. The kidney usually lacks the alpha3-alpha6 chains of collagen type IV, although each is coded by a separate gene. The molecular basis for this loss remains unclear. In canine X-linked hereditary nephritis, a model for X-linked Alport syndrome, a COL4A5 mutation results in reduced mRNA levels for the alpha3, alpha4, and alpha5 chains in the kidney, implying a mechanism coordinating the production of these 3 chains. To examine whether production of alpha6 chain is under the same control, we studied smooth muscle cells from this animal model. We determined the canine COL4A5 and COL4A6 genes are separated by 435 bp, with two first exons for COL4A6 separated by 978 bp. These two regions are >/= 78% identical to the human sequences that have promoter activity. Despite this potential basis for coordinated transcription of the COL4A5 and COL4A6 genes, the alpha6 mRNA level remained normal in affected male dog smooth muscle while the alpha5 mRNA level was markedly reduced. However, both alpha5 and alpha6 chains were absent at the protein level. Our results suggest that production of the alpha6 chain is under a control mechanism separate from that coordinating the alpha3-alpha5 chains and that the lack of the alpha6 chain in Alport syndrome is related to a failure at the protein assembly level, raising the possibility that the alpha5 and alpha6 chains are present in the same network. The lack of the alpha6 chain does not obviously result in disease, in particular leiomyomatosis, as is seen in Alport patients with deletions involving the COL4A5 and COL4A6 genes. (+info)Human uterine leiomyomata express higher levels of peroxisome proliferator-activated receptor gamma, retinoid X receptor alpha, and all-trans retinoic acid than myometrium. (2/113)
Uterine leiomyomata are the main indication for a hysterectomy in the United States and occur in 25% of women >35 years. Because uterine leiomyomata can form when ovariectomized guinea pigs are exposed to estradiol and retinoic acids, we tested whether human leiomyomata had high levels of retinoic acids and related nuclear receptors. Compared with normal human myometrium, leiomyomata had 3- to 5-fold higher levels of peroxisome proliferator-activated receptor gamma (PPARgamma), retinoid X receptor alpha proteins, and all-trans retinoic acid, but only during the follicular phase of the menstrual cycle. 9-cis Retinoic acid was undetectable in either leiomyomata or myometrium. PPARgamma mRNA levels were lower in leiomyomata than myometrium, but only during the luteal phase of the cycle. A PPARgamma agonist, troglitazone, was given to guinea pigs along with estradiol and all-trans retinoic acid and produced the largest leiomyomata seen to date in this model. By contrast, no tumors formed when troglitazone was given alone or with estradiol or when troglitazone was given with estradiol and 9-cis retinoic acid. New therapies for human leiomyomata may emerge by combining antagonists for PPARgamma and retinoid X receptor alpha with selective estrogen receptor modulators. (+info)Unusual abdominal tumors with intracardiac extension. Two cases with successful surgical resection. (3/113)
Abdominal tumors that can grow through vascular lumen and spread to the right heart are rare. Although these tumors have different histologic aspects, they may cause similar abdominal and cardiac symptoms and are a serious risk factor for pulmonary embolism and sudden death when they reach the right atrium and tricuspid valve. The best treatment is radical surgical resection of the entire tumor using cardiopulmonary bypass with or without deep hypothermia and total circulatory arrest. We report the cases of two patients, the first with leiomyosarcoma of the inferior vena cava and the other with intravenous leiomyomatosis of the uterus that showed intravascular growth up to right atrium and ventricle, who underwent successful radical resection in a one-stage procedure with the use of cardiopulmonary bypass. We discuss the clinical and histologic aspects and imaging diagnosis and review the literature. (+info)Intravenous leiomyomatosis with cardiac extension: tumor thrombectomy through an abdominal approach. (4/113)
Intravenous leiomyomatosis is an uncommon vascular tumor that may be seen with potentially life-threatening symptoms resulting from intracardiac extension. This tumor is frequently misdiagnosed and treated without appropriate preoperative imaging and planning, which at times leads to inadequate treatment and incomplete resections. The appropriate therapy is complete excision of the tumor. We describe a patient who was treated with a new approach involving a single-stage operation without the need for median sternotomy, cardiopulmonary bypass graft, or hypothermic arrest by resection of the tumor from the point of attachment in the abdominal portion of the inferior vena cava. (+info)Laparoscopic myomectomy: a current view. (5/113)
Since 1990 laparoscopic myomectomy (LM) has provided an alternative to laparotomy when intramural and subserous myomata are to be managed surgically. However, this technique is still the subject of debate. Based on their own experience together with data from the literature, the authors report on the situation today regarding the operative technique for LM and the risks and benefits of the technique as compared with myomectomy by laparotomy. The operative technique comprises four main phases: hysterotomy; enucleation; suture of the myomectomy site and extraction of the myoma. LM offers the possibility of a minimally invasive approach to treat medium-sized (<9 cm) subserous and intramural myomata by surgery when there are only two or three of them. When conducted by experienced surgeons, the risk of peri-operative complications is no higher using this technique. Use of the laparoscopic route could reduce the haemorrhagic risk associated with myomectomy. LM could reduce also the risk of post-operative adhesions as compared with laparotomy. Spontaneous uterine rupture seems to be rare after LM but further studies are needed before it can be said whether the strength of the hysterotomy scars after LM is equivalent to that obtained after laparotomy. The risk of recurrence seems to be higher after LM than after myomectomy performed by laparotomy. (+info)Recurrence of leiomyomata after myomectomy. (6/113)
Abdominal myomectomy (by laparotomy or by laparoscopy) enables all the myomata to be excised while maintaining reproductive function. The actual risk of recurrence after abdominal myomectomy is difficult to assess because of methodological problems. Studies using life-table analysis find a cumulative risk of clinically significant recurrence of approximately 10% at 5 years for myomectomy by laparotomy. This risk probably underestimates the true prevalence of myomata as assessed by systematic ultrasound investigation. After laparoscopic myomectomy there appears to be a greater risk of recurrence. In one third of cases, recurrence becomes the reason for a hysterectomy. The risk of recurrence increases when there is more than one myoma. The use of gonadotrophin-releasing hormone agonists preoperatively could increase the risk of recurrence. Persistence or recurrence of the myoma thus reduces the chances of conception or taking a pregnancy full term after the myomectomy. It is essential to obtain the most complete exeresis possible in order to reduce the risk of recurrence to a minimum. However, it is inevitable that small, undetectable nuclei will remain within the myometrium whatever approach is used (laparoscopy or laparotomy). It would be an advantage to know what the growth factors are and how to identify groups at high risk of recurrence so that the treatment strategies could be better adapted and appropriate prophylactic methods developed. (+info)Embolization of uterine leiomyomata: current concepts in management. (7/113)
Transcatheter bilateral uterine artery embolization is a relatively new, but fast increasing modality being offered as an alternative to surgery for the treatment of symptomatic uterine fibroids (myomata). Since its introduction in 1995, it is estimated that over 5000 procedures have been performed, despite little objective evidence of its efficacy in comparison with more traditional surgical procedures, e.g. hysterectomy, abdominal or laparoscopic myomectomy or hysteroscopic procedures. The enthusiastic uptake of uterine artery embolization is partly due to the fact that it can be performed as a day case, and is a means of avoiding surgery especially hysterectomy. However, the procedure is not without significant risks, and these are becoming clearer as more procedures are being reported. This review examines the procedure, its use and purported efficacy and discusses its complications and potential hazards. (+info)Laparoscopic myolysis. (8/113)
This review will focus on the different techniques and the long-term effects of the technique called myolysis on myoma growth. Indications for myolysis are essentially pelvic pain, compression symptoms and global uterine volume in order to avoid hysterectomy. In the late 1980s, myolysis was performed laparoscopically with the help of the neodynium: yttrium aluminium garnet (Nd:YAG) laser. Later, bipolar needles were developed as an alternative to the Nd:YAG laser. Diathermy and cryomyolysis were also proposed but series are small in the literature. Very recently, myoma interstitial thermo-therapy (MITT) was performed using the diode laser and a specific optical light diffuser that is designed to transmit laser light in all directions. Laparoscopic myolysis was proved to be effective in provoking myoma shrinkage, with a dramatic decrease in size and a marked devascularization of the myoma and this technique can be proposed as an alternative to myomectomy in selected patients: only those aged >40 years or those not desiring to bear any more children. (+info)Leiomyomatosis is a medical term that refers to the benign growth (non-cancerous) of smooth muscle cells, which form tumors known as leiomyomas or fibroids. These growths can occur in various parts of the body, including the skin, uterus, gastrointestinal tract, and other organs.
The term "leiomyomatosis" is often used to describe a condition where multiple smooth muscle tumors develop in a single organ or throughout the body. For example:
1. Cutaneous leiomyomatosis - Multiple benign tumors of the smooth muscle in the skin.
2. Uterine leiomyomatosis - Multiple fibroids in the uterus, also known as uterine fibroids or myomas.
3. Gastrointestinal stromal tumor (GIST) leiomyomatosis - Multiple benign smooth muscle tumors in the gastrointestinal tract.
4. Disseminated peritoneal leiomyomatosis - Multiple benign smooth muscle tumors spread across the peritoneum, the lining of the abdominal cavity.
These conditions are usually not cancerous but can cause various symptoms depending on their location and size. Treatment options may include surveillance, medication, or surgical removal of the tumors.
Fumarate hydratase (FH) is an enzyme that plays a crucial role in the citric acid cycle, also known as the Krebs cycle or tricarboxylic acid (TCA) cycle. The citric acid cycle is a series of chemical reactions used by all living cells to generate energy through the oxidation of acetyl-CoA derived from carbohydrates, fats, and proteins into adenosine triphosphate (ATP), carbon dioxide, and water.
Fumarate hydratase is specifically responsible for catalyzing the conversion of fumarate to malate in this cycle. A deficiency or dysfunction of this enzyme can lead to various metabolic disorders and hereditary diseases, such as fumarate hydratase deficiency, which may manifest as neurological issues, hemolytic anemia, and an increased risk of developing renal cell carcinoma.
Uterine neoplasms refer to abnormal growths in the uterus, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from different types of cells within the uterus, leading to various types of uterine neoplasms. The two main categories of uterine neoplasms are endometrial neoplasms and uterine sarcomas.
Endometrial neoplasms develop from the endometrium, which is the inner lining of the uterus. Most endometrial neoplasms are classified as endometrioid adenocarcinomas, arising from glandular cells in the endometrium. Other types include serous carcinoma, clear cell carcinoma, and mucinous carcinoma.
Uterine sarcomas, on the other hand, are less common and originate from the connective tissue (stroma) or muscle (myometrium) of the uterus. Uterine sarcomas can be further divided into several subtypes, such as leiomyosarcoma, endometrial stromal sarcoma, and undifferentiated uterine sarcoma.
Uterine neoplasms can cause various symptoms, including abnormal vaginal bleeding or discharge, pelvic pain, and difficulty urinating or having bowel movements. The diagnosis typically involves a combination of imaging tests (such as ultrasound, CT, or MRI scans) and tissue biopsies to determine the type and extent of the neoplasm. Treatment options depend on the type, stage, and patient's overall health but may include surgery, radiation therapy, chemotherapy, or hormone therapy.
Vascular neoplasms are a type of tumor that develops from cells that line the blood vessels or lymphatic vessels. These tumors can be benign (non-cancerous) or malignant (cancerous). Benign vascular neoplasms, such as hemangiomas and lymphangiomas, are usually harmless and may not require treatment unless they cause symptoms or complications. Malignant vascular neoplasms, on the other hand, are known as angiosarcomas and can be aggressive, spreading to other parts of the body and potentially causing serious health problems.
Angiosarcomas can develop in any part of the body but are most commonly found in the skin, particularly in areas exposed to radiation or chronic lymph edema. They can also occur in the breast, liver, spleen, and heart. Treatment for vascular neoplasms depends on the type, location, size, and stage of the tumor, as well as the patient's overall health. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Leiomyoma is a benign (non-cancerous) tumor that originates from the smooth muscle cells. It most commonly occurs in the uterus, where it is also known as a fibroid, but can also develop in other parts of the body such as the skin, gastrointestinal tract, and genitourinary system. Leiomyomas are typically slow-growing and often cause no symptoms, although they can lead to various complications depending on their size and location. Treatment options for leiomyomas include surveillance, medication, or surgical removal.
A uterine myomectomy is a surgical procedure that involves removing uterine fibroids, which are noncancerous growths that develop in the muscular wall of the uterus. The surgery aims to preserve the uterus, unlike a hysterectomy, where the entire uterus is removed.
During the myomectomy procedure, the surgeon makes an incision in the uterus, carefully extracts the fibroids, and then closes the incision. The approach to the surgery can vary depending on factors such as the size, number, and location of the fibroids:
1. Abdominal myomectomy: An open surgical procedure where an incision is made in the lower abdomen to access the uterus directly. This method is typically used when there are numerous or large fibroids.
2. Laparoscopic myomectomy: A minimally invasive procedure that involves making several small incisions in the abdomen, through which a laparoscope (a thin, lighted tube with a camera) and specialized surgical instruments are inserted to perform the surgery. This method is often preferred for smaller fibroids and when preserving the uterus is essential.
3. Hysteroscopic myomectomy: Another minimally invasive procedure that involves inserting a hysteroscope through the cervix into the uterine cavity to remove submucosal fibroids (fibroids that grow into the inner cavity of the uterus). No abdominal incisions are required for this approach.
Recovery time and postoperative discomfort will vary depending on the type of myomectomy performed, but generally, minimally invasive procedures result in quicker recoveries and fewer complications compared to open surgeries.
Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.
Examples of hereditary neoplastic syndromes include:
1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.
Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.
Prurigo is a dermatological condition characterized by the development of persistent, itchy papules (small, solid, raised bumps) on the skin. These lesions often result in scratching or rubbing, which can further exacerbate the itching and lead to the formation of new papules. The exact cause of prurigo is not well understood, but it may be associated with various underlying conditions such as atopic dermatitis, diabetes, HIV infection, or chronic renal failure.
There are two main types of prurigo: acute and chronic. Acute prurigo typically lasts for less than six months and is often triggered by an insect bite, drug reaction, or other short-term factors. Chronic prurigo, on the other hand, can persist for years and may be more resistant to treatment.
Prurigo can significantly affect a person's quality of life due to constant itching, discomfort, and potential sleep disturbances. Dermatological evaluation, identification of underlying causes, and appropriate management strategies are essential in addressing this condition effectively.
The inferior vena cava (IVC) is the largest vein in the human body that carries deoxygenated blood from the lower extremities, pelvis, and abdomen to the right atrium of the heart. It is formed by the union of the left and right common iliac veins at the level of the fifth lumbar vertebra. The inferior vena cava is a retroperitoneal structure, meaning it lies behind the peritoneum, the lining that covers the abdominal cavity. It ascends through the posterior abdominal wall and passes through the central tendon of the diaphragm to enter the thoracic cavity.
The inferior vena cava is composed of three parts:
1. The infrarenal portion, which lies below the renal veins
2. The renal portion, which receives blood from the renal veins
3. The suprahepatic portion, which lies above the liver and receives blood from the hepatic veins before draining into the right atrium of the heart.
The inferior vena cava plays a crucial role in maintaining venous return to the heart and contributing to cardiovascular function.
Heart neoplasms are abnormal growths or tumors that develop within the heart tissue. They can be benign (noncancerous) or malignant (cancerous). Benign tumors, such as myxomas and rhabdomyomas, are typically slower growing and less likely to spread, but they can still cause serious complications if they obstruct blood flow or damage heart valves. Malignant tumors, such as angiosarcomas and rhabdomyosarcomas, are fast-growing and have a higher risk of spreading to other parts of the body. Symptoms of heart neoplasms can include shortness of breath, chest pain, fatigue, and irregular heart rhythms. Treatment options depend on the type, size, and location of the tumor, and may include surgery, radiation therapy, or chemotherapy.
Kidney neoplasms refer to abnormal growths or tumors in the kidney tissues that can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various types of kidney cells, including the renal tubules, glomeruli, and the renal pelvis.
Malignant kidney neoplasms are also known as kidney cancers, with renal cell carcinoma being the most common type. Benign kidney neoplasms include renal adenomas, oncocytomas, and angiomyolipomas. While benign neoplasms are generally not life-threatening, they can still cause problems if they grow large enough to compromise kidney function or if they undergo malignant transformation.
Early detection and appropriate management of kidney neoplasms are crucial for improving patient outcomes and overall prognosis. Regular medical check-ups, imaging studies, and urinalysis can help in the early identification of these growths, allowing for timely intervention and treatment.
Leiomyosarcoma is a type of cancer that arises from the smooth muscle cells, which are responsible for the involuntary contractions of various organs and blood vessels. It most commonly occurs in the uterus, soft tissues (such as muscles and fat), and the gastrointestinal tract.
Leiomyosarcomas can vary in their aggressiveness and may spread to other parts of the body (metastasize) through the bloodstream or lymphatic system. The prognosis for leiomyosarcoma depends on several factors, including the location and size of the tumor, the patient's age and overall health, and the extent of metastasis. Treatment typically involves surgical removal of the tumor, along with radiation therapy and/or chemotherapy to help prevent recurrence or spread of the cancer.
Stomach volvulus is a medical condition that involves the twisting or rotation of the stomach around its axis, leading to obstruction of the inflow and outflow of the stomach. This can result in strangulation of the blood supply to the stomach wall, potentially causing ischemia, necrosis, and perforation if not promptly treated. It is a surgical emergency that requires immediate medical attention. The condition can be congenital or acquired, with the acquired form being more common and often associated with underlying conditions such as gastric distention, laxity of gastrocolic ligaments, or previous abdominal surgery.
Carcinoma, renal cell (also known as renal cell carcinoma or RCC) is a type of cancer that originates in the lining of the tubules of the kidney. These tubules are small structures within the kidney that help filter waste and fluids from the blood to form urine.
Renal cell carcinoma is the most common type of kidney cancer in adults, accounting for about 80-85% of all cases. It can affect people of any age, but it is more commonly diagnosed in those over the age of 50.
There are several subtypes of renal cell carcinoma, including clear cell, papillary, chromophobe, and collecting duct carcinomas, among others. Each subtype has a different appearance under the microscope and may have a different prognosis and response to treatment.
Symptoms of renal cell carcinoma can vary but may include blood in the urine, flank pain, a lump or mass in the abdomen, unexplained weight loss, fatigue, and fever. Treatment options for renal cell carcinoma depend on the stage and grade of the cancer, as well as the patient's overall health and preferences. Treatment may include surgery, radiation therapy, chemotherapy, immunotherapy, or targeted therapy.
Hereditary nephritis is a genetic disorder that causes recurring inflammation of the kidneys' glomeruli, which are the tiny blood vessel clusters that filter waste from the blood. This condition is also known as hereditary glomerulonephritis.
The inherited form of nephritis is caused by mutations in specific genes, leading to abnormalities in the proteins responsible for maintaining the structural integrity and proper functioning of the glomeruli. As a result, affected individuals typically experience hematuria (blood in urine), proteinuria (protein in urine), hypertension (high blood pressure), and progressive kidney dysfunction that can ultimately lead to end-stage renal disease (ESRD).
There are different types of hereditary nephritis, such as Alport syndrome and thin basement membrane nephropathy. These conditions have distinct genetic causes, clinical presentations, and inheritance patterns. Early diagnosis and appropriate management can help slow the progression of kidney damage and improve long-term outcomes for affected individuals.
Peritoneal neoplasms refer to tumors or cancerous growths that develop in the peritoneum, which is the thin, transparent membrane that lines the inner wall of the abdomen and covers the organs within it. These neoplasms can be benign (non-cancerous) or malignant (cancerous). Malignant peritoneal neoplasms are often associated with advanced stages of gastrointestinal, ovarian, or uterine cancers and can spread (metastasize) to other parts of the abdomen.
Peritoneal neoplasms can cause various symptoms such as abdominal pain, bloating, nausea, vomiting, loss of appetite, and weight loss. Diagnosis typically involves imaging tests like CT scans or MRIs, followed by a biopsy to confirm the presence of cancerous cells. Treatment options may include surgery, chemotherapy, radiation therapy, or a combination of these approaches, depending on the type, stage, and location of the neoplasm.
Intravenous leiomyomatosis - Wikipedia
Condition Disseminated Peritoneal Leiomyomatosis
Pathophysiology and Etiology
X-linked diffuse leiomyomatosis‑Alport syndrome - Sjelden
View of Cardiac leiomyomatosis misdiagnosed initially as submissive pulmonary embolism: a rare case report
PET/CT Imaging of disseminated peritoneal leiomyomatosis: Cases reports - International Journal of Radiation Research
FH gene: MedlinePlus Genetics
genetic testing - and uterine leiomyomata multiple cutaneous (MCUL) (See Hereditary leiomyomatosis and renal cancer). - IVAMI
Vol. 139 No. 2930 (2009)
| Swiss Medical Weekly
![Hickey K[au] - Search Results - PubMed](data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAMAAAAoLQ9TAAAARVBMVEVHcEwoU45gYmYAUpQAUpRPYGVgYmZLXnJgYmYAUZUAUpRJXnIAUpQAUpRgYmYAUpRgYmZgYmZhYmYAUpQAUpQAUpRgYmaDiPJuAAAAFXRSTlMADOJ+6QewGO8/uTRqtH7GdFJ11p1bCL3TAAAAZUlEQVQYlV2PVw7AIAxDTeney7n/UcsoldX3E+VJOAboEi7MBpHWMs1ADlG8u7UYWauwyZFeRQVPOhG2o+aiwhByJxUx91Jxhje3iJSqGfHuLKI0+0TpXvY1twCOPlFh5pa/++MB0vIOBm+1zaoAAAAASUVORK5CYII=)
Hickey K[au] - Search Results - PubMed
Uterine Fibromyoma and Intravascular Thrombosis-Eight Cases
Pediatric Cancer Genetic Risk Program - Dana-Farber Cancer Institute | Boston, MA
Uncategorized Archives - Page 2 of 85 - JMG Contact blog
Antoun Toubaji, M.D. | Center for Cancer Research
FDA Takes New Steps to Increase the Safety of Laparoscopic Power Morcellators when used in Gynecologic Surgeries | FDA
Benefits and pitfalls of open power morcellation of uterine fibroids | MDedge ObGyn
Carlos Antonio Torres-Cabala | MD Anderson Cancer Center
Gene Table | Myriad Genetics
WikiGenes - FH - fumarate hydratase