Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood.

Pulmonic stenosis is usually due to isolated valvular obstruction (pulmonary valve stenosis), but it may be due to subvalvular or supravalvular obstruction, such as infundibular stenosis. It may occur in association with other congenital heart defects as part of more complicated syndromes (for example, tetralogy of Fallot).

When pulmonic stenosis (PS) is present, resistance to blood flow causes right ventricular hypertrophy. If right ventricular failure develops, right atrial pressure will increase, and this may result in a persistent opening of the foramen ovale, shunting of unoxygenated blood from the right atrium into the left atrium, and systemic cyanosis. If pulmonary stenosis is severe, congestive heart failure occurs, and systemic venous engorgement will be noted. An associated defect such as a patent ductus arteriosus partially compensates for the obstruction by shunting blood from the left ventricle to the aorta then back to the pulmonary artery (as a result of the higher pressure in the left ventricle) and back into the lungs.

Diffuse tightness and tenderness over the entire belly of the tibialis anterior that does not respond to elevation or pain medication can be early warning signs and suggestive of Anterior Compartment Syndrome. Other common symptoms include excessive swelling that causes the skin to become hot, stretched and glossy. Pain, paresthesias, and tenderness in both the ischemic muscles and the region supplied by the deep common fibular nerve are exhibited by patients suffering from this condition. Sensitivity to passive stretch and active contraction are common, and tend to increase the symptoms.

A compartment syndrome is an increased pressure within a muscular compartment that compromises the circulation to the muscles.

Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality.

Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant. The disorder, also called renal hamartomas, nephroblastomatosis and fetal gigantism, has also been grouped with Renal cell carcinoma. The characteristic features include polyhydramnios, fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age.

It is usually associated with amyloid beta.

However, there are other types:

- the "Icelandic type" is associated with Cystatin C

- the "British type" is associated with ITM2B

Research is currently being conducted to determine if there is a link between cerebral amyloid angiopathy and ingestion of excessive quantities of aluminum.

Susceptibility weighted imaging has been proposed as a tool for identifying CAA-related microhemorrhages.

Biopsies also play a role in diagnosing the condition.

Constipation is a symptom, not a disease. Most commonly, constipation is thought of as infrequent bowel movements, usually less than 3 stools per week. However, people may have other complaints as well including:

- Straining with bowel movements

- Excessive time needed to pass a bowel movement

- Hard stools

- Pain with bowel movements secondary to straining

- Abdominal pain

- Abdominal bloating.

- the sensation of incomplete bowel evacuation.

The Rome Criteria are a set of symptoms that help standardize the diagnosis of constipation in various age groups. These criteria help physicians to better define constipation in a standardized manner.

Crush syndrome (also traumatic rhabdomyolysis or Bywaters' syndrome) is a medical condition characterized by major shock and renal failure after a injury to skeletal muscle. Crush "injury" is compression of extremities or other parts of the body that causes muscle swelling and/or neurological disturbances in the affected areas of the body, while crush "syndrome" is localized crush injury with systemic manifestations. Cases occur commonly in catastrophes such as earthquakes, to victims that have been trapped under fallen or moving masonry.

Victims of crushing damage present some of the greatest challenges in field medicine, and may be among the few situations where a physician is needed in the field. The most drastic response to crushing under massive objects may be field amputation. Even if it is possible to extricate the patient without amputation, appropriate physiological preparation is mandatory: where permissive hypotension is the standard for prehospital care, fluid loading is the requirement in crush syndrome.

The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign. Benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes.

MEN syndromes are inherited as autosomal dominant disorders.

Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.

Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.

Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.

"http://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis"

Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation.

Normally when a vascular injury occurs, platelets are activated and phosphatidylserine (PS) in the inner leaflet of the platelet membrane is transported to the outer leaflet of the platelet membrane, where it provides a binding site for plasma protein complexes that are involved in the conversion of prothrombin to thrombin, such as factor VIIIa-IXa (tenase) and factor Va-Xa (prothrombinase).

In Scott syndrome, the mechanism for translocating PS to the platelet membrane is defective, resulting in impaired thrombin formation. A similar defect in PS translocation has also been demonstrated in Scott syndrome red blood cells and Epstein-Barr virus transformed lymphocytes, suggesting that the defect in Scott syndrome reflects a mutation in a stem cell that affects multiple hematological lineages.

The basis for the defect in PS translocation is, at present, unknown. A candidate protein, scramblase, that may be involved in this process appears to be normal in Scott syndrome platelets. Other possible defects in PS translocation, reported in some patients, require further study. The initially reported patient with Scott Syndrome has been found to have a mutation at a splice-acceptor site of the gene encoding transmembrane protein 16F (TMEM16F). At present, the only treatment for episodes of bleeding is the transfusion of normal platelets.

Distinguish between acute (days to weeks) or chronic (months to years) onset of constipation because this information changes the differential diagnosis. This in the context of accompanied symptoms help physicians discover the cause of constipation. People often describe their constipation as bowel movements that are difficult to pass, firm stool with lumpy or hard consistency, and excessive straining during bowel movements. Bloating, abdominal distension, and abdominal pain often accompany constipation. Chronic constipation (symptoms present at least three days per month for more than three months) associated with abdominal discomfort is often diagnosed as irritable bowel syndrome (IBS) when no obvious cause is found.

Poor dietary habits, previous abdominal surgeries, and certain medical conditions can contribute to constipation. Diseases associated with constipation include hypothyroidism, certain types of cancer, and irritable bowel syndrome. Low fiber intake, inadequate amounts of fluids, poor ambulation or immobility, or medications can contribute to constipation. Once the presence of constipation is identified based on a culmination of the symptoms described above, then the cause of the constipation should be figured out.

Separating non-life-threatening from serious causes may be partly based on symptoms. For example, colon cancer may be suspected if a person has a family history of colon cancer, fever, weight loss, and rectal bleeding. Other alarming signs and symptoms include family or personal history of inflammatory bowel disease, age of onset over 50, change in stool caliber, nausea, vomiting, and neurological symptoms like weakness, numbness and difficulty urinating.

Although not officially categorized as multiple endocrine neoplasia syndromes, Von Hippel-Lindau disease and Carney complex are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes. Although not transmitted in the germline, McCune-Albright syndrome is a genetic disorder characterized by endocrine neoplastic features involving endocrine glands that overlap with those involved in MEN1 or MEN2.

Epidermolytic ichthyosis (EI), (also known as "epidermolytic hyperkeratosis (EHK)", "bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma, or bullous congenital ichthyosiform erythroderma Brocq) is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people.

It involves the clumping of keratin filaments.

Lichen planus affecting mucosal surfaces may have one lesion or be multifocal. Examples of lichen planus affecting mucosal surfaces include:

- "Esophageal lichen planus", affecting the esophageal mucosa. This can present with difficulty or pain when swallowing due to oesophageal inflammation, or as the development of an esophageal stricture. It has also been hypothesized that it is a precursor to squamous cell carcinoma of the esophagus.

- "Genital lichen planus," which may cause lesions on the glans penis or skin of the scrotum in males, and the vulva or vagina in females. Symptoms may include lower urinary tract symptoms associated with stenosis of the urethra, painful sexual intercourse, and itching. In females, "Vulvovaginal-gingival syndrome," is severe and distinct variant affecting the vulva, vagina, and gums, with complications including scarring, vaginal stricture formation, or vulva destruction. The corresponding syndrome in males, affecting the glans penis and gums, is the "peno-gingival syndrome". It is associated with HLA-DQB1.

Oral lichen planus (also termed "oral mucosal lichen planus"), is a form of mucosal lichen planus, where lichen planus involves the oral mucosa, the lining of the mouth. This may occur in combination with other variants of lichen planus. Six clinical forms of oral lichen planus are recognized:

- "Reticular", the most common presentation of oral lichen planus, is characterised by the net-like or spider web-like appearance of lacy white lines, oral variants of Wickham's straiae. This is usually asymptomatic.

- "Erosive/ulcerative", the second most common form of oral lichen planus, is characterised by oral ulcers presenting with persistent, irregular areas of redness, ulcerations and erosions covered with a yellow slough. This can occur in one or more areas of the mouth. In 25% of people with erosive oral lichen planus, the gums are involved, described as desquamative gingivitis (a condition not unique to lichen planus). This may be the initial or only sign of the condition.

- "Papular," with white papules.

- "Plaque-like" appearing as a white patch which may resemble leukoplakia.

- "Atrophic," appearing as areas. Atrophic oral lichen planus may also manifest as desquamative gingivitis.

- "Bullous," appearing as fluid-filled vesicles which project from the surface.

These types often coexist in the same individual. Oral lichen planus tends to present bilaterally as mostly white lesions on the inner cheek, although any mucosal site in the mouth may be involved. Other sites, in decreasing order of frequency, may include the tongue, lips, gingivae, floor of the mouth, and very rarely, the palate.

Generally, oral lichen planus tends not to cause any discomfort or pain, although some people may experience soreness when eating or drinking acidic or spicy foodstuffs or beverages. When symptoms arise, they are most commonly associated with the atrophic and ulcerative subtypes. These symptoms can include a burning sensation to severe pain. Lichen planus, particularly when concomitant oral or genital lesions occur, significantly affects patients’ quality of life.

Seigo Minami, a Japanese physician, first reported the crush syndrome in 1923. He studied the pathology of three soldiers who died in World War I from insufficiency of the kidney. The renal changes were due to methemoglobin infarction, resulting from the destruction of muscles, which is also seen in persons who are buried alive. The progressive acute renal failure is because of acute tubular necrosis.

The syndrome was later described by British physician Eric Bywaters in patients during the 1941 London Blitz. It is a reperfusion injury that appears after the release of the crushing pressure. The mechanism is believed to be the release into the bloodstream of muscle breakdown products—notably myoglobin, potassium and phosphorus—that are the products of rhabdomyolysis (the breakdown of skeletal muscle damaged by ischemic conditions).

The specific action on the kidneys is not understood completely, but may be due partly to nephrotoxic metabolites of myoglobin.

The most devastating systemic effects can occur when the crushing pressure is suddenly released, without proper preparation of the patient, causing reperfusion syndrome. In addition to tissue directly suffering the crush mechanism, down stream tissue is subject to Ischemia-reperfusion injuries of the appendicular musculoskeletal system. Without proper preparation, the patient, with pain control, may be cheerful before extrication, but die shortly thereafter. This sudden decompensation is called the "smiling death."

These systemic effects are caused by a traumatic rhabdomyolysis. As muscle cells die, they absorb sodium, water and calcium; the rhabdomyolysis releases potassium, myoglobin, phosphate, thromboplastin, creatine and creatine kinase.

Compartment syndrome can be secondary to crush syndrome. Monitor for the classic 5 Ps: pain, pallor, parasthesias, pain with passive movement, and pulselessness.

Panayiotopoulos syndrome occurs exclusively in otherwise normal children and manifests mainly with infrequent autonomic epileptic seizures and autonomic status epilepticus. Onset of seizures is from age 1 to 14 years with 76% starting between 3–6 years. Autonomic seizures consist of episodes of disturbed autonomic function with nausea, retching and vomiting as predominant symptoms. Other autonomic manifestations include pallor (or, less often, flushing or cyanosis), mydriasis (or, less often, miosis), cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility. In approximately one fifth of the seizures the child becomes unresponsive and flaccid (syncope-like epileptic seizures or ictal syncope) before or often without convulsions. Syncope-like epileptic seizures (ictal syncope) with the child becoming "completely unresponsive and flaccid like a rag doll" occur in one fifth of the seizures. More-conventional seizure symptoms often appear after the onset of autonomic manifestations. The child, who was initially fully conscious, becomes confused and unresponsive. Eyes turn to one side or gaze widely open. Only half of the seizures end with brief hemiconvulsions or generalized convulsions. Autonomic symptoms may be the only features of the seizures. None of the above symptoms alone is a prerequisite for diagnosis. Recurrent seizures may not be stereotyped. The same child may have brief or prolonged seizures and autonomic manifestations may be severe or inconspicuous. The full emetic triad (nausea, retching, vomiting) culminates in vomiting in 74% of the seizures; in others only nausea or retching occur, and in a few, none of the emetic symptoms are apparent.

Most of the seizures are prolonged and half of them last more than 30 minutes thus constituting autonomic status epilepticus, which is the more common nonconvulsive status epilepticus in normal children. Characteristically, even after the most severe seizures and autonomic status epilepticus, the child is normal after a few hours of sleep, which is both diagnostic and reassuring. However, it has been recently reported that sometime after status epilepticus in children with Panayiotopoulos syndrome a. growth of the frontal and prefrontal lobes is slightly decreased and b.the scores on the neuropsychological tests is decreased.

Focal onset hemiconvulsions or generalised convulsions occur in nearly half of the seizures. These are usually shorter than the preceding autonomic manifestations but in a few cases a. they may be prolonged constituting convulsive status epilepticus or b. the preceding autonomic manifestations are brief and not apparent

Seizures can occur at any time but they are more common during sleep.

Like other cancers arising in the head and neck region, HPV+OPC may be an asymptomatic incidental finding of an abnormality in the mouth, by the patient or a health professional, present with local symptoms such as difficulties with speech, swallowing, and breathing as well as pain and infection, or as a swelling in the neck if the cancer has spread to lymph nodes there. These may be accompanied by more general symptoms such as loss of appetite, weight loss and weakness.

Panayiotopoulos syndrome (named after C. P. Panayiotopoulos) is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly with autonomic epileptic seizures and autonomic status epilepticus. An expert consensus has defined Panayiotopoulos syndrome as "a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG [electroencephalogram] that shows shifting and/or multiple foci, often with occipital predominance."

Progeroid syndromes (PS) are a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. The term "progeroid syndrome" does not necessarily imply progeria (Hutchinson–Gilford progeria syndrome), which is a specific type of progeroid syndrome.

"Progeroid" means "resembling premature aging", a definition that can apply to a broad range of diseases. Familial Alzheimer's disease and familial Parkinson's disease are two well-known accelerated-aging diseases that are more frequent in older individuals. They affect only one tissue and can be classified as unimodal progeroid syndromes. Segmental progeria, which is more frequently associated with the term "progeroid syndrome", tends to affect multiple or all tissues while causing affected individuals to exhibit only some of the features associated with aging.

All disorders within this group are thought to be monogenic, meaning they arise from mutations of a single gene. Most known PS are due to genetic mutations that lead to either defects in the DNA repair mechanism or defects in lamin A/C.

Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund–Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum-Cockayne syndrome (XP-CS), restrictive dermopathy (RD), and Hutchinson–Gilford progeria syndrome (HGPS). Individuals with these disorders tend to have a reduced lifespan. Progeroid syndromes have been widely studied in the fields of aging, regeneration, stem cells, and cancer. The most widely studied of the progeroid syndromes are Werner syndrome and Hutchinson–Gilford progeria, as they are seen to most resemble natural aging.

Human papillomavirus-positive oropharyngeal cancer (HPV+OPC) is a subtype of oropharyngeal squamous cell carcinomas (OSCC), associated with the human papillomavirus type 16 virus (HPV16). Historically, cancer of the throat oropharynx (throat) was associated with the use of alcohol and tobacco, but the majority of cases are now associated with the HPV virus. HPV+OPC differs in a number of respects from OPC not associated with HPV (HPV-OPC), and is considered a separate disease. HPV has long been associated with cancers in the anogenital region, but in 2007 it was also recognized as a cause of oropharyngeal cancer. HPV is common among healthy adults and is largely transmitted through sexual contact, but tobacco use increases the risk of cancer.

Detection of a tumour suppressor protein, known as p16, is commonly used to diagnose an HPV associated OPC. The extent of disease is described in the standard cancer staging system, using the AJCC TNM system, based on the T stage (size and extent of tumour), N stage (extent of involvement of regional lymph nodes) and M stage (whether there is spread of the disease outside the region or not), and combined into an overall stage from I–IV. In 2016, a separate staging system was developed for HPV+OPC, distinct from HPV-OPC.

The historical treatment of OPC was surgical, with an approach through the neck and splitting of the jaw bone, which resulted in a considerable risk of death. Later, radiotherapy with or without the addition of chemotherapy, provided a less invasive alternative, and the results in terms of treating the cancer, were comparable. Newer minimally invasive surgical techniques through the mouth have improved outcomes, and surgery is often followed by radiation and or chemotherapy in high risk cases. In the absence of high quality evidence, management decisions are often based on technical factors, likely functional loss and the persons preferences. Some HPV+OPC may first appear in lymph nodes in the neck, without an obvious source (cancer of unknown primary origin) but removal of tonsil tissue from the oropharynx will often show hidden disease. The presence of HPV in the tumour is associated with a better response to treatment and a better outcome, independent of the treatment methods used and a nearly 60% reduced risk of dying from the cancer. Most recurrence occurs locally and within the first year after treatment. The use of tobacco decreases the chances of survival. While most head and neck cancer has been declining with reduced smoking rates, HPV+OPC has been increasing. Compared to HPV-OPC patients, HPV+OPC patients tend to be younger, have a higher socioeconomic status and are less likely to smoke. In addition they tend to have smaller tumours, but are more likely to have involvement of the cervical lymph nodes. In the United States and other countries, the number of cases of oropharyngeal cancer has been increasing steadily, with the incidence of HPV+OPC increasing faster than the decline in HPV-OPC. The increase is seen particularly in young men in developed countries, and HPV+OPC now accounts for the majority of all OPC cases.

Attempts are being made to reduce the incidence of HPV+OPC by introducing vaccination that includes HPV types 16 and 18, found in 95% of these cancers, prior to exposure to the virus. Early data suggest a reduction in infection rates.

Lilapsophobia is an abnormal fear of tornadoes or hurricanes. Lilapsophobia is considered the more severe type of astraphobia, which is a fear of thunder and lightning.