Clinical Features Yeo et al. (1998) described a 4-year-old boy, born to nonconsanguineous parents, with severe obesity in whom no evidence for a recognized clinical syndrome or a structural hypothalamic cause of the obesity was found.
Clinical Features Brown et al. (1974) noted that the consistent laboratory findings of reduced serum cholesterol and beta-lipoprotein define hypobetalipoproteinemia as a distinct syndrome. They found 4 reported kindreds and added a fifth.
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood . The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver.
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats, causing low levels of cholesterol in the blood. The severity of the condition varies widely. Mildly affected people may have no signs or symptoms. Many affected people develop an abnormal buildup of fats in the liver (called hepatic steatosis, or fatty liver ). In severe cases, this may progress to cirrhosis . Some people also have digestive problems in childhood, resulting in failure to thrive . FHBL is usually caused by mutations in the APOB gene. In a few cases, it may be caused by mutations in other genes, or the cause may be unknown.
The clinical features resembled those of Kennedy syndrome (313200), although the mode of inheritance was different (autosomal dominant, not X-linked), and had been reported only in Okinawa, Japan.
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Hereditary motor and sensory neuropathy with proximal dominance Other names Hereditary motor and sensory neuropathy, Okinawa type This condition is inherited in an autosomal dominant manner Specialty Neurology Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) is an autosomal dominant neurodegenerative disorder that is defined by extensive involuntary and spontaneous muscle contractions, asthenia , and atrophy with distal sensory involvement following. The disease starts presenting typically in the 40s and is succeeded by a slow and continuous onslaught. Muscle spasms and muscle contractions large in number are noted, especially in the earliest stages. The presentation of HMSN-P is quite similar to amyotrophic lateral sclerosis and has common neuropathological findings. Sensory loss happens as the disease progresses, but the amount of sensation lost varies from case to case.
Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.
Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
Sandler et al. (1970) raised the question of whether parkinsonism occurs in increased frequency with alkaptonuria, either as a complication or as a syndromal entity separate from ordinary alkaptonuria.
Summary Clinical characteristics. Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Oxidation of the HGA excreted in the urine produces a melanin-like product and causes the urine to turn dark on standing. Ochronosis occurs only after age 30 years; arthritis often begins in the third decade. Other manifestations include pigment deposition, aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation, renal stones, and prostate stones.
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Frequency This condition is rare, affecting 1 in 250,000 to 1 million people worldwide.
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion. There is still no cure for this disease. Treatment includes the management of joint pain, physical and occupational therapy, joint replacements and surgery when needed.
A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). Epidemiology Birth prevalence is estimated at around 1/250,000 to 1/1,000,000 in most ethnic groups. The condition is more common in Slovakia and the Dominican republic where it affects up to 1 in 19,000 newborns. Clinical description Many affected individuals are asymptomatic and unaware of their condition until adulthood, however, homogentisic aciduria may be recognized early in infancy by dark-stained diapers. After the third decade, unusual pigmentation of the sclera and the skin overlying cartilage begins to be observed, as well as muscular-skeletal symptoms such as back pain and stiffness.
The differential diagnosis must be established with acute and chronic tonsillitis, tonsillar hypertrophy , peritonsillar abscesses, foreign bodies, phlebolites , ectopic bone or cartilage, lymph nodes , granulomatous lesions or calcification of the stylohyoid ligament in the context of Eagle syndrome (elongated styloid process). [11] Differential diagnosis of tonsilloliths includes foreign body, calcified granuloma , malignancy , an enlarged temporal styloid process or rarely, isolated bone which is usually derived from embryonic rests originating from the branchial arches . [12] Treatment [ edit ] If tonsil stones do not bother a person, no treatment is needed. [1] Otherwise gargling saltwater and manual removal may be tried. [1] Chlorhexidine may also be tried. [1] Surgical treatment may include partial or complete tonsil removal . [1] Some people are able to remove tonsil stones using a cotton swab or finger.
The authors designated this disorder 'IGFS1 deficiency syndrome.' Joustra et al. (2016) reviewed the clinical and biochemical characteristics of patients and female carriers from the 10 families with IGSF1-associated central hypothyroidism previously reported by Joustra et al. (2013) as well as from 20 newly ascertained unrelated families, for a total of 69 affected males and 56 female carriers.
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
Please help to improve this article by introducing more precise citations. ( May 2013 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Equine exertional rhabdomyolysis ( ER , also known as tying up , azoturia , or Monday morning disease ) is a syndrome that damages the muscle tissue in horses.
PMID 16467053 . v t e Cerebral palsy Symptoms and signs Spasticity Upper motor neuron lesion Spastic cerebral palsy Scissor gait Spastic diplegia Spastic hemiplegia Spastic quadriplegia Ataxia and others Ataxic cerebral palsy Dyskinetic cerebral palsy Diagnosis General movements assessment Measurement scales Gross Motor Function Classification System - Expanded & Revised (gross motor function) Manual Ability Classification System (manual dexterity) Communication Function Classification System (communication) Modified Ashworth scale (spasticity) Management Management of cerebral palsy Selective percutaneous myofascial lengthening Rhizotomy Other People with cerebral palsy Cerebral palsy organizations Works about cerebral palsy and other paralytic syndromes
Overview Vaginal cancer is a rare cancer that occurs in your vagina — the muscular tube that connects your uterus with your outer genitals. Vaginal cancer most commonly occurs in the cells that line the surface of your vagina, which is sometimes called the birth canal. While several types of cancer can spread to your vagina from other places in your body, cancer that begins in your vagina (primary vaginal cancer) is rare. A diagnosis of early-stage vaginal cancer has the best chance for a cure. Vaginal cancer that spreads beyond the vagina is much more difficult to treat.
March 2015. v t e Phenomena of the visual system Entoptic phenomena Blind spot Phosphene Floater Afterimage Haidinger's brush Prisoner's cinema Blue field entoptic phenomenon Purkinje images Other phenomena Aura Form constant Scintillating scotoma Palinopsia Visual snow Afterimage on empty shape Cosmic ray visual phenomena Scotopic sensitivity syndrome Closed-eye hallucination
Chronic bullous dermatosis : a disease that causes clusters of blisters on the face, mouth or genitals. Cutaneous radiation syndrome Epidermolysis bullosa [10] Pathophysiology [ edit ] Friction blisters [ edit ] Friction blisters are caused by excess shear stress between the bottom and surface of the skin and the body.
This was the first reported case of Bell’s palsy following chronic Cyclospora infection. [4] In addition to other extra-intestinal reports, cyclosporiasis might be involved in either reversible neuronal damage or other unknown mechanisms to lead to Guillain-Barré syndrome or Bell's palsy. In 2010, a report of Cyclospora transmission via swimming in the Kathmandu Valley was published in the Journal of Institute of Medicine . [5] The researchers found that openly defecated human stool samples around the swimmer's living quarters and near the swimming pool were positive for Cyclospora .
This has led to the term " culture-bound syndrome ." It must be stressed that the term BD long predates any such socio-cultural, ethnic, or regional uses.
This article incorporates text from this source, which is in the public domain . v t e HIV/AIDS in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
The left hip is more often affected than the right. [2] Over half of cases may have involvement on both sides (bilateral). [2] See also [ edit ] Legg–Calvé–Perthes syndrome – another cause of avascular necrosis of the femoral head, seen in younger children than SCFE Hip dysplasia Drehmann sign – Clinical test examining for SCFE References [ edit ] ^ a b Perry, Daniel C.; Metcalfe, David; Lane, Steven; Turner, Steven (2018).
Clinical Features Rennie (1967) observed 12 children or adolescents with slipped upper femoral epiphysis and a close relative with the same. Two additional patients had a parent with osteoarthritis of the hip. This disorder was found by Ochsner et al. (1977) in 10 members of a family, with 2 other members showing coxarthrosis which may have been a sequel to subclinical slipped epiphysis. Male-to-male transmission was noted. Hagglund et al. (1986) studied 49 families, performing radiographic examinations of first-degree relatives and interviewing second-degree relatives in 4 of the 49 families. Slipped femoral capital epiphysis was found in 1 or more first-degree relatives. In another 13 families, radiographic signs were found. Three generations were affected in the family reported by Hagglund and Hansson (1986).
Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).
These headaches are recurrent in nature and start from the base of the skull and emanate upwards; they can be painful or mild. [1] Arm pains Muscular spasms within the arm are further common symptoms in which such spasms are seen right above the collarbones and pressure is placed on the Brachial plexus causing arms to feel heavy and ache. [1] Difficulty walking Hardships arise with cervical spinal injuries when issues with walking, balancing, and posture are affected all due to the spinal cord being compressed resulting in Myelopathy . [3] Those with extremely severe outcomes may result in: Impairment [4] Cause [ edit ] There are several conditions and syndromes that can affect the cervical spine and they all vary due to the difference in place and type of injury.
Addiction and dependence glossary [1] [2] [3] [4] addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences addictive behavior – a behavior that is both rewarding and reinforcing addictive drug – a drug that is both rewarding and reinforcing dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake) drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose drug withdrawal – symptoms that occur upon cessation of repeated drug use physical dependence – dependence that involves persistent physical– somatic withdrawal symptoms (e.g., fatigue and delirium tremens ) psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia ) reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach sensitization – an amplified response to a stimulus resulting from repeated exposure to it substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose v t e Drug tolerance is a pharmacological concept describing subjects' reduced reaction to a drug following its repeated use.
PMID 20380904 . v t e Motion sickness Types Airsickness Seasickness Simulator sickness Ski sickness Space adaptation syndrome Virtual reality sickness Medicine treatment Bonine Cinnarizine Dramamine Marezine Promethazine Transdermscop Related Bárány chair Sickness bag
