An ileosigmoid knot is a form of volvulus in which ileum wraps around the base of the sigmoid and passes beneath itself forming a knot.

The exact cause of this condition is not known. Patients usually present with clinical features of colonic obstruction. Vomiting, abdominal distension, abdominal pain, blood stained stools are frequent symptoms. It is difficult to diagnose this condition before surgery. Raveenthiran described a triad which may be useful in preoperative diagnosis. The triad includes 1). Clinical features suggestive of small bowel obstruction, 2). Radiological features suggestive of large bowel obstruction, 3). Inability to negotiate sigmoidoscope or a flatus tube. This is a surgical emergency that requires urgent resection of gangrenous bowel and untwisting of the volvulus.

Frenulum breve may be complicated by tearing of the frenulum during sexual or other activity and is a cause of dyspareunia. It may lead to erroneous labelling of the sufferer as having psychosexual problems. The torn frenulum may result in healing with scar tissue that is less flexible after the incident causing further difficulties. However, this tearing can also solve the problem, healing such that the frenulum is longer and therefore no longer problematic. The diagnosis of frenulum breve is almost always confused with that of phimosis and a generally tight foreskin, since the symptom is difficulty retracting the foreskin. Most men with phimosis also have frenulum breve to a certain extent.

Frenulum breve, or short frenulum, is a condition in which the frenulum of the penis, which is an elastic band of tissue under the glans penis that connects to the foreskin and helps contract it over the glans, is too short and thus restricts the movement of the foreskin. The frenulum should normally be sufficiently long and supple to allow for the full retraction of the foreskin so that it lies smoothly back on the shaft of the erect penis.

The penile frenulum is comparable to the tongue's frenulum between the tongue's lower surface and the lower jaw, or the frenulum between the upper lip and the outside of the upper gum.

The average size of these cysts is 2.0 cm, but excised cysts of more than 5 cm have been reported. The size of the cyst may vary over time and may increase after activity.

These cysts most frequently occur around the dorsum of the wrist and on the fingers. A common site of occurrence is along the extensor carpi radialis brevis, as it passes over the dorsum of the wrist joint. Although most commonly found in the wrist, ganglion cysts also may occur in the foot.

Ganglion cysts are "commonly observed in association with the joints and tendons of the appendicular skeleton, with 88% 'in communication with the multiple small joints of the hand and wrist' and 11% with those of the foot and ankle." They commonly are found near the wrist joint, especially at the scapho-lunate area.

In a 2007 study of patients in Glasgow whose foot lumps were being removed surgically, 39 of 101 cases were ganglion cysts. The study replicated earlier findings that no ganglion cysts were found on the sole or heel of the foot; the authors wrote that "Although lumps in these areas may be ganglia, the surgeon should probably consider other diagnoses in the first instance." The researchers also noted a marked preponderance of occurrence among females (85%) and that 11 of the other cases had been misdiagnosed as ganglion cysts before surgery.

Ganglion cysts are not limited to the hands and feet. They may occur near the knee, commonly near the cruciate ligaments, but also they may occur at the origins of the gastrocnemius tendon and, anteriorly, on Hoffa's infrapatellar fat pad. At the shoulder, they typically occur at the acromioclavicular joint or along the biceps tendon.

From their common origin at a joint or tendon, ganglion cysts may form in a wide range of locations. Rarely, intraosseous ganglion cysts occur, sometimes in combination with a cyst in the overlying soft tissue. Very rare cases of intramuscular ganglion cysts in the gastrocnemius muscle of the calf have been reported. It is possible for a cyst to be displaced considerably from its connection to the joint. In one extreme case, a ganglion cyst was observed to propagate extensively via the conduit of the common peroneal nerve sheath to a location in the thigh; in such cases surgery to the proximal joint to remove the articular connection may remove the need for a riskier, more extensive surgery in the neural tissue of the thigh. The cysts may intrude into the spine, which may cause pain and dysesthesia in distant extremities.

It has been proposed recently that cystic adventitial disease, in which a cyst occurs within the popliteal artery near the knee, may occur by an articular mechanism, with a conduit leading from the joint, similar to the development of ganglion cysts, that spreads within the peroneal nerve.

Cysts that were compressing one or more nerves and causing bone erosions have been reported to occur near the shoulder joint.

The main consequence of impaired ciliary function is reduced or absent mucus clearance from the lungs, and susceptibility to chronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. Progressive damage to the respiratory system is common, including progressive bronchiectasis beginning in early childhood, and sinus disease (sometimes becoming severe in adults). However, diagnosis is often missed early in life despite the characteristic signs and symptoms. In males, immotility of sperm can lead to infertility, although conception remains possible through the use of in vitro fertilization and, as well as this, there have been reported cases where sperm were able to move. Trials have also shown that there is a marked reduction in fertility in female sufferers of Kartagener's Syndrome due to dysfunction of the oviductal cilia.

Many affected individuals experience hearing loss and show symptoms of otitis media which demonstrate variable responsiveness to the insertion of myringotomy tubes or grommets. Some patients have a poor sense of smell, which is believed to accompany high mucus production in the sinuses (although others report normal - or even acute - sensitivity to smell and taste). Clinical progression of the disease is variable, with lung transplantation required in severe cases. Susceptibility to infections can be drastically reduced by an early diagnosis. Treatment with various chest physiotherapy techniques has been observed to reduce the incidence of lung infection and to slow the progression of bronchiectasis dramatically. Aggressive treatment of sinus disease beginning at an early age is believed to slow long-term sinus damage (although this has not yet been adequately documented). Aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections have been observed to slow lung-disease progression. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000,

although the actual incidence may be as high as 1 in 15,000.

Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagella of sperm cells. The phrase "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized.

Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), which are currently the subject of dozens of research efforts. As the functions of cilia become better understood, the understanding of PCD should be expected to advance.

The most prominent symptoms of Norrie disease are ocular. The first visible finding is leukocoria, a grayish-yellow pupillary reflex that originates from a mass of unorganized tissue behind the lens. This material, which possibly includes an already detached retina, may be confused with a tumor and thus is termed pseudoglioma. However, an affected baby may have a normally sized eye globe and inconspicuous iris, anterior chamber, cornea and intraocular pressure.

Over the first few months of life, complete or partial retinal detachment evolves. From infancy through childhood, the patient may undergo progressive changes in the disease. These progressions include the formation of cataracts, deterioration of the iris with adhesions forming between the iris and the lens or the cornea, and shallowing of the anterior chamber which may increase intraocular pressure, causing eye pain. As the situation worsens, there is corneal opacification, where the cornea becomes opaque, and band keratopathy. Intraocular pressure is lost and the globe shrinks. In the last stage of Norrie disease, the globes appear small and sunken in (phthisis bulbi) and the cornea appears to be milky .

Norrie disease can also have cognitive and behavioral symptoms. Developmental delay or learning difficulties are present in about 30 to 50% of males who have Norrie disease. Psychotic-like features and poorly characterized behavior abnormalities may also be present. Auditory symptoms are common with Norrie disease. Progressive hearing loss starts in early childhood for a majority of males with the condition. Early hearing loss is sensorineural, mild and asymmetric. By adolescence, high-frequency hearing loss begins to appear. Hearing loss is severe, symmetric, and broad-spectrum by the age of 35. However, studies show that while the hearing loss is deteriorating, the ability to speak well is highly preserved. The slowly progressing hearing loss is more problematic to adjust to than the congenital blindness for most people with Norrie disease.

Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties.

Patients with Norrie disease may develop cataracts, leukocoria (a condition where the pupils appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the iris. Around 30 to 50% of them will also have developmental delay/learning difficulties, psychotic-like features, incoordination of movements or behavioral abnormalities. Most patients are born with normal hearing; however, the onset of hearing loss is very common in early adolescence. About 15% of patients are estimated to develop all the features of the disease.

The disease affects almost only male infants, because the disease is inherited X-linked recessive. Only in very rare cases, females have been diagnosed with Norrie disease as well. The exact incidence number is unknown; only a few hundred cases have been reported. It is a very rare disorder that is not associated with any specific ethnic or racial groups.

The primary and most common symptom in patients with CMC OA of the thumb is pain. Pain at the base of the thumb is mainly experienced when moving the thumb or when applying pressure with the thumb. However, in advanced stages of CMC OA, pain might persist at rest. Another prominent symptom is loss of strength of the thumb. Patients struggle to grab or hold an object due to weakening of the thumb. For example, tying a knot or holding a saucepan becomes increasingly difficult.

If patients present themselves with similar symptoms, physicians should also consider De Quervain syndrome, rheumatoid arthritis or flexor carpi radialis and flexor pollicis longus tendinopathy as a possible cause.

Typical signs of CMC OA can be observed from the outside of the hand. For example, the area near the base of the thumb can be swollen and could appear inflamed. Advanced stages of CMC OA can eventually lead to deformity of the thumb. This deformity, also called a ‘zigzag’ deformity, is characterized by a deviation of the thenar eminence towards the middle of the hand, whilst the thumb phalanges overextend. Also a grinding sound, known as crepitus, can be heard when the CMC1 joint is moved.

CMC OA is diagnosed based on clinical findings and radiologic imaging.

In medicine, desmoplasia is the growth of fibrous or connective tissue. It is also called desmoplastic reaction to emphasize that it is secondary to an insult. Desmoplasia may occur around a neoplasm, causing dense fibrosis around the tumor, or scar tissue (adhesions) within the abdomen after abdominal surgery.

Desmoplasia is usually only associated with malignant neoplasms, which can evoke a fibrosis response by invading healthy tissue. Invasive ductal carcinomas of the breast often have a scirrhous, stellate appearance caused by desmoplastic formations.

Response to infection by "Leishmania donovani" varies a great deal, not only by the strength but also by the type of the patient's immune reaction. People with a history of infection by strains of leishmania that cause visceral leishmaniasis show a continuum of immune responses from protective to non-protective. Those who acquired protective immunity (skin test positive) without ever having visceral leishmaniasis have a strong type 1 CD4+ response to leishmania antigens. Antigen specific interferon-gamma and proliferation, as well as the ability to kill intracellular leishmania, are hallmarks of protective immunity. Because visceral leishmaniasis patients lack these responses to leishmania and other antigens, they usually die of secondary infections if left untreated. In addition, increased interleukin-10 secretion is characteristic of the disease. Addition of interleukin-12, anti-interleukin-10, or anti-interleukin-4 to peripheral blood mononuclear cells from acute patients sometimes increases interferon-gamma secretion and proliferation. Acute patient peripheral blood mononuclear cells include CD8+ T regulatory cells that decrease interferon-gamma secretion and proliferation responses to leishmania and other antigens and increase interleukin-10 secretion when added to autologous peripheral blood mononuclear cells harvested after successful treatment. Thus, the CD8+ T regulatory cells reproduce the immune response characteristic of visceral leishmaniasis. CD8+ T regulatory cells are also associated with post kala azar dermal leishmaniasis. Addition of interleukin-12 or interferon-gamma does not prevent CD8+ T regulatory activity. The dominance of type 1 CD4+ T cells in skin test positive adults maybe explained by their secretion of factors that inhibit and kill CD8+ T regulatory cells. Successfully treated patients rarely develop visceral leishmaniasis a second time. Their peripheral blood mononuclear cells show a mixed T1/T2 CD4+ and CD8+ T suppressor response but do have the ability to kill intracellular leishmania.

When people develop visceral leishmaniasis, the most typical symptoms are fever and the enlargement of the spleen, with enlargement of the liver sometimes being seen as well. The blackening of the skin that gave the disease its common name in India does not appear in most strains of the disease, and the other symptoms are very easy to mistake for those of malaria. Misdiagnosis is dangerous, as without proper treatment the mortality rate for kala-azar is close to 100%. "L. donovani" itself is not usually the direct cause of death in kala-azar sufferers, however. Pneumonia, tuberculosis, and dysentery are omnipresent in the depressed regions where leishmaniasis thrives, and, as with AIDS, it is these opportunistic infections that are more likely to kill, flaring up in a host whose immune system has been weakened by the "L. donovani" infection. Progress of the disease is extremely variable, taking anywhere from one to twenty weeks, but a typical duration for the Sudanese strain of the disease is narrower, between twelve and sixteen weeks.

Even with recovery, kala-azar does not always leave its hosts unmarked. Some time after successful treatment—generally a few months with African kala-azar, or as much as several years with the Indian strain—a secondary form of the disease may set in, called post kala-azar dermal leishmaniasis, or PKDL. This condition manifests first as small, measle-like skin lesions on the face, which gradually increase in size and spread over the body. Eventually the lesions may coalesce to form disfiguring, swollen structures resembling leprosy, and occasionally causing blindness if they spread to the eyes. (This disease is not the same as cutaneous leishmaniasis, a milder disease caused by another protozoan of the Leishmania genus which also causes skin lesions.)

Visceral leishmaniasis (VL), also known as kala-azar, black fever, and Dumdum fever, is the most severe form of leishmaniasis and, without proper diagnosis and treatment, is associated with high fatality. Leishmaniasis is a disease caused by protozoan parasites of the "Leishmania" genus.

The parasite migrates to the internal organs such as the liver, spleen (hence "visceral"), and bone marrow, and, if left untreated, will almost always result in the death of the host. Signs and symptoms include fever, weight loss, fatigue, anemia, and substantial swelling of the liver and spleen. Of particular concern, according to the World Health Organization (WHO), is the emerging problem of HIV/VL co-infection.

This disease is the second-largest parasitic killer in the world (after malaria), responsible for an estimated 200,000 to 400,000 infections each year worldwide.

Desmoplasia originates from the Ancient Greek δεσμός "desmos", "knot", "bond" and πλάσις "plasis", "formation". It is usually used in the description of desmoplastic small round cell tumors.

Neoplasia is the medical term used for both benign and malignant tumors, and is used as a blanket term that refers to abnormal, excessive, uncoordinated, and autonomous cellular/tissue growth.

Desmoplasia refers to growth of dense connective tissue or stroma. This growth is characterized by low cellularity with hyalinized or sclerotic stroma and disorganized blood vessel infiltration. This growth is called a desmoplastic response and occurs as result of injury or neoplasia. This response is coupled with malignancy in non-cutaneous neoplasias, and with benign or malignant tumors if associated with cutaneous pathologies.

The heterogeneity of tumor cancer cells and stroma cells combined with the complexities of surrounding connective tissue suggest that understanding cancer by tumor cell genomic analysis is not sufficient; analyzing the cells together with the surrounding stromal tissue may provide more comprehensive and meaningful data.