"an autosomal recessive trait. Females are more prone to Caroli disease than males. Family history may include kidney and liver disease due to the link between Caroli disease and ARPKD. ""PKHD1"", the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. ""PKHD1"" is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys. The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined. Modern imaging techniques allow the diagnosis to be"
"IgA nephropathy IgA nephropathy (IgAN), also known as IgA nephritis, Berger's disease () (and variations), or synpharyngitic glomerulonephritis, is a disease of the kidney (or nephropathy) and the immune system; specifically it is a form of glomerulonephritis or an inflammation of the glomeruli of the kidney. Aggressive Berger's disease (a rarer form of the disease) can attack other major organs, such as the liver, skin and heart. IgA nephropathy is the most common glomerulonephritis worldwide, however aggressive Berger's disease is on the NORD list of rare diseases. Primary IgA nephropathy is characterized by deposition of the IgA antibody in the"
"therefore it is sometimes called Berger’s disease. IgA nephropathy IgA nephropathy (IgAN), also known as IgA nephritis, Berger's disease () (and variations), or synpharyngitic glomerulonephritis, is a disease of the kidney (or nephropathy) and the immune system; specifically it is a form of glomerulonephritis or an inflammation of the glomeruli of the kidney. Aggressive Berger's disease (a rarer form of the disease) can attack other major organs, such as the liver, skin and heart. IgA nephropathy is the most common glomerulonephritis worldwide, however aggressive Berger's disease is on the NORD list of rare diseases. Primary IgA nephropathy is characterized by"
"linked to Buerger's disease (thromboangiitis obliterans). Buerger’s disease is a rare disease in which the arteries and veins in the arms and legs become inflamed, swell and can become blocked with blood clots, also known as thrombi. Adrenergic receptor autoantibodies Adrenergic receptor autoantibodies The adrenergic receptors (or adrenoreceptors) are a class of cell membrane-bound protein receptors throughout the body that are targets of the catecholamines, especially norepinephrine(or noradrenaline) and epinephrine (or adrenaline). The binding to these receptors by catecholamines will generally stimulate the sympathetic nervous system, the arm of the autonomic nervous system responsible for the fight-or-flight response. The implications"
"(which if significant enough may require the insertion of a pacemaker). It can affect the musculoskeletal system causing non-inflammatory transient arthritis and / or arthralgias. It can affect the nervous system manifesting as facial paralysis (Bell's palsy, classically bilateral), fatigue, and loss of memory. Stage 3 is known as the Late Disseminated stage and occurs months - years after the initial infection. Effects of the 3 stage include encephalitis or meningitis.. as well as migratory arthropathies (most commonly of the knee). Anaplasmosis and babesiosis are also common tick-borne pathogens carried by the Ixodes tick that infect humans similarly to Borrelia"
"throughout the body. This disease also affects skin, mucous membranes, and the body's lymph nodes. Baker's lab is investigating the possibility of a viral causative agent for the disease. This disease mostly affects children under the age of 5. Causes remain unknown, however it is treatable within days if the symptoms are recognized early enough. If left untreated, it can lead to serious problems for the heart. Baker has also worked closely with coronaviruses, the causative agent of Severe Acute Respiratory Syndrome. These are viruses that affect mostly the upper respiratory and GI tract of humans and are named because"
"Joseph Berger (neurologist) Joseph R. Berger is an American internist and neurologist who is known for his research interests in progressive multifocal leukoencephalopathy (PML), the neurological complications of HIV/AIDS, multiple sclerosis, and other inflammatory disorders of the brain. Particularly, he contributed research on why PML occurs more frequently in AIDS than in other immunosuppressive conditions. He has also made substantial contributions to the understanding of the spectrum of neurological complications that accompany HIV infection occurring as a consequence of the direct effects of the HIV on the central and peripheral nervous systems and those that result from the accompanying immunosuppression"
"rheumatoid arthritis, heart failure, reactive arthritis, ankylosing spondylitis and HIV. Diagnosis of Berger's disease and a search for any associated disease occasionally reveals such an underlying serious systemic disease. Occasionally, there are simultaneous symptoms of Henoch–Schönlein purpura; see below for more details on the association. Some HLA alleles have been suspected along with complement phenotypes as being genetic factors. Non-aggressive Berger's disease may also be associated with any of the above systemic diseases, however this is rare. Histologically, IgA nephropathy may show mesangial widening and focal and segmental inflammation. Diffuse mesangial proliferation or crescentic glomerulonephritis may also be present. Immunoflourescence"
"is sometimes necessary to perform angiograms of other body regions (e.g., a mesenteric angiogram). Skin biopsies of affected extremities are rarely performed because of the frequent concern that a biopsy site near an area poorly perfused with blood will not heal well. The cause of the disease is thought to be autoimmune in nature and heavily linked to tobacco use in patients with Buerger's as primary disease. Smoking cessation has been shown to slow the progression of the disease and decrease the severity of amputation in most patients, but does not halt the progression. In acute cases, drugs and procedures"
"patients with Becker muscular dystrophy can be impacted by the symptoms of the disorder. But with assistive devices, independence can be maintained. People affected by Becker muscular dystrophy can still maintain active lifestyles. Becker muscular dystrophy is named after the German doctor Peter Emil Becker who published an article about it in 1955. Becker's muscular dystrophy Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is"
"all legs and the patella, but can have affected tissues in the nuchal ligament, eyes, aorta, skin and fascia, lungs and other organs, as well as ligaments and tendons throughout the body. Because of its systemic nature, and because connective tissue is present everywhere in a biological entity, the entire body becomes affected in multiple ways as the disease progresses. Some horses have shown an iron overload in the liver as well. Ongoing research is working on the biochemical aspects of the disease and has found a problem in the transfer growth factor and decorin. It is strongly believed to"
"can be classified a few different ways: by how fast the disease progresses (slow vs fast progressors), by whether it is inherited or sporadic, and by where it starts. In about 25% of cases, muscles in the face, mouth, and throat are affected first, because motor neurons in the part of the brain stem called the medulla oblongata (formerly called the ""bulb"") start to die first along with lower motor neurons. This form is called ""bulbar onset"". In about 5% of cases muscles in the trunk of the body are affected first. In most cases the disease spreads and affects"
"are color changes in the extremities. The colour may range from cyanotic blue to reddish blue. Skin becomes thin and shiny. Hair growth is reduced. Ulcerations and gangrene in the extremities are common complications, often resulting in the need for amputation of the involved extremity. There are characteristic pathologic findings of acute inflammation and thrombosis (clotting) of arteries and veins of the hands and feet (the lower limbs being more common). The mechanisms underlying Buerger's disease are still largely unknown, but smoking and tobacco consumption are major factors associated with it. It has been suggested that the tobacco may trigger"
"Thromboangiitis obliterans Thromboangiitis obliterans, also known as Buerger disease (English , German ), is a recurring progressive inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet. It is strongly associated with use of tobacco products, primarily from smoking, but is also associated with smokeless tobacco. There is a recurrent acute and chronic inflammation and thrombosis of arteries and veins of the hands and feet. The main symptom is pain in the affected areas, at rest and while walking (claudication). The impaired circulation increases sensitivity to cold. Peripheral pulses are diminished or absent. There"
"the EGOG (Court for Genetic Health) in 1941. Berger replied: ""I am gladly willing to work again as an assessor at the Court for Genetic Health in Jena, for which I thank you."" Berger did not join the SS, SA or Nazi party ""despite the significant Nazification of the University of Jena, but was a supporting SS member, possibly for self-protection."" After a long period of clinical depression, and suffering from a severe skin infection, Berger committed suicide by hanging on June 1, 1941 in the southern wing of the clinic. Among his many research interests in neurology, Berger studied"
"which supply the head and face; this may lead to weakness of the muscles of the face, swallowing difficulties and sometimes weakness of the eye muscles. In 8%, the weakness affects only the legs (paraplegia or paraparesis). Involvement of the muscles that control the bladder and anus is unusual. In total, about a third of people with Guillain–Barré syndrome continue to be able to walk. Once the weakness has stopped progressing, it persists at a stable level (""plateau phase"") before improvement occurs. The plateau phase can take between two days and six months, but the most common duration is a"
"enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in"
"system, bones, eyes, and heart. Neurosyphilis at this point can cause several damages to the body, including tabes dorsalis. When the nervous system is infected at this particular stage, the individual is at risk for meningeal syphilis, which in turn slowly shuts down the entire body. The tertiary stages can also cause the growth of many tumors, and lead to cancerous effects in the body. This stage can be diagnosed through specific tests in serology. The nonspecific tests may be negative. At this point, there is little treatment the individual can pursue, and the body shuts down as a whole."
"heart. At the Boston University School of Medicine, Berger reported that he and his colleagues saved the life of a heart attack victim with the installation of a partial artificial heart device known as the Left Ventricular Assist Device. Starting in 1990, Berger became an outspoken critic of the use of scientific experiments conducted on concentration camp prisoners in Nazi Germany. In a study he published that year, Berger noted that, despite numerous citations in the scientific literature, such experiments contained scientific inconsistencies, improper methods, and apparent data falsification. Berger eventually became director of clinical research in the division of"
"Guillain–Barré syndrome Guillain–Barré syndrome (GBS) is a rapid-onset muscle weakness caused by the immune system damaging the peripheral nervous system. The initial symptoms are typically changes in sensation or pain along with muscle weakness, beginning in the feet and hands. This often spreads to the arms and upper body, with both sides being involved. The symptoms develop over hours to a few weeks. During the acute phase, the disorder can be life-threatening, with about 15% developing weakness of the breathing muscles requiring mechanical ventilation. Some are affected by changes in the function of the autonomic nervous system, which can lead"
"leads to increased osmotic pressure resulting in cellular swelling and death. The tissues most affected by this disease are the liver, heart, and neuromuscular system, areas with the greatest levels of glycogen accumulation. Abnormal glycogen buildup in the liver interferes with liver functioning and can result in an enlarged liver and liver disease. In muscles, the inability of cells to efficiently breakdown glycogen due to the severe reduction or absence of branching can lead to muscle weakness and atrophy. At least three mutations in the GBE1 gene have been found to cause another disease called adult polyglucosan body disease (APBD)."
"Becker's muscular dystrophy Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the ""dystrophin"" gene. Some symptoms consistent with Becker muscular dystrophy are: Individuals with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs"
"and journalist John McBeth describes his experiences of the disease, and treatment for it, in a chapter called 'Year of the Leg' in his book entitled ""Reporter. Forty Years Covering Asia"". Philippine president Rodrigo Duterte has personally disclosed that he suffers from Buerger’s disease. Thromboangiitis obliterans Thromboangiitis obliterans, also known as Buerger disease (English , German ), is a recurring progressive inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet. It is strongly associated with use of tobacco products, primarily from smoking, but is also associated with smokeless tobacco. There is a recurrent"
"may be disrupted in the absence of the WNT4 protein's regulation. Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia. Bardet-Biedl syndrome (BBS) is a cliopathic human genetic disorder that can affect various parts of the body. Parts of the urogenital system where the effects of BBS are seen include: ectopic urethra, renal failure, uterus duplex, hypogonadism, septate vagina, and hypoplasia of the fallopian tubes, uterus, ovaries. Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity. The mechanism that causes BBS is still remains unclear. Mutations"
"variety of other diseases that cause diminished blood flow to the extremities. These other disorders must be ruled out with an aggressive evaluation, because their treatments differ substantially from that of Buerger’s disease, for which there is no treatment known to be effective. Diseases with which Buerger’s disease may be confused include atherosclerosis (build-up of cholesterol plaques in the arteries), endocarditis (an infection of the lining of the heart), other types of vasculitis, severe Raynaud's phenomenon associated with connective tissue disorders (e.g., lupus or scleroderma), clotting disorders of the blood, and others. Angiograms of the upper and lower extremities can"
"be helpful in making the diagnosis of Buerger’s disease. In the proper clinical setting, certain angiographic findings are diagnostic of Buerger’s. These findings include a “corkscrew” appearance of arteries that result from vascular damage, particularly the arteries in the region of the wrists and ankles. Collateral circulation gives ""tree root"" or ""spider leg"" appearance. Angiograms may also show occlusions (blockages) or stenosis (narrowings) in multiple areas of both the arms and legs. Distal plethysmography also yields useful information about circulatory status in digits. To rule out other forms of vasculitis (by excluding involvement of vascular regions atypical for Buerger’s), it"
"the lungs may also occur via infection from the blood stream. This is known as a Simon focus and is typically found in the top of the lung. This hematogenous transmission can also spread infection to more distant sites, such as peripheral lymph nodes, the kidneys, the brain, and the bones. All parts of the body can be affected by the disease, though for unknown reasons it rarely affects the heart, skeletal muscles, pancreas, or thyroid. Tuberculosis is classified as one of the granulomatous inflammatory diseases. Macrophages, T lymphocytes, B lymphocytes, and fibroblasts aggregate to form granulomas, with lymphocytes surrounding"
"The disease was first described by an American pathologist Ernest Goodpasture of Vanderbilt University in 1919 and was later named in his honor. The antiglomerular basement membrane (GBM) antibodies primarily attack the kidneys and lungs, although, generalized symptoms like malaise, weight loss, fatigue, fever, and chills are also common, as are joint aches and pains. 60 to 80% of those with the condition experience both lung and kidney involvement; 20-40% have kidney involvement alone, and less than 10% have lung involvement alone. Lung symptoms usually antedate kidney symptoms and usually include: coughing up blood, chest pain (in less than 50%"
"ear lobe, nipple, or scrotum. Various acute neurological problems, termed neuroborreliosis, appear in 10–15% of untreated people. These include facial palsy, which is the loss of muscle tone on one or both sides of the face, as well as meningitis, which involves severe headaches, neck stiffness, and sensitivity to light. Inflammation of the spinal cord's nerve roots can cause shooting pains that may interfere with sleep, as well as abnormal skin sensations. Mild encephalitis may lead to memory loss, sleep disturbances, or mood changes. In addition, some case reports have described altered mental status as the only symptom seen in"
"the blood) and macrophages (found in tissue) are responsible for phagocytosis (ingestion) of foreign material in the body. Langerhans cells are dendritic cells found in the skin and function by internalizing antigens (foreign particles) and presenting them to T cells. They arise from monocytes. Histiocytic disorders refer to diseases that are caused by abnormal behavior of these cells. They include the following: Up to 25 percent of Bernese Mountain Dogs may develop malignant histiocytosis in their lifetime. Other breeds with a possible genetic tendency toward malignant histiocytosis include Rottweilers, Flat-Coated Retrievers, and Golden Retrievers. The disease in the lungs is"
"are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands. Tumours in Brooke-Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males. Brooke-Spiegler is rare and its exact incidence is unknown. It is inherited in an autosomal dominant"
"of the patients reported symptoms being worse than those present at the time of their diagnosis. Benign fasciculation syndrome Benign fasciculation syndrome (BFS) is a neurological disorder characterized by fasciculation (twitching) of various voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, legs, and feet. Even the tongue may be affected. The twitching may be occasional or may go on nearly continuously. Usually intentional movement of the involved muscle causes the fasciculations to cease immediately, but they may return once the muscle is at rest again. The"
"of AIDS. Berger is the discoverer of the value of the anabolic steroid oxandrolone in the treatment of AIDS wasting and AIDS myopathy. He is the recipient of the 2015 Pioneer in NeuroVirology award of the International Society for NeuroVirology. In 1981, Berger joined the faculty of the University of Miami School of Medicine, serving in the departments of both neurology and internal medicine. At that institution, he held the Whigham-Berger Endowed Chair for the study of the neurological complications of HIV/AIDS. He is a fellow of the American Academy of Neurology, the American Neurological Association, and the American College"