A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.
Clinical Features Tiemann et al. (2005) reported 3 male newborns from a consanguineous Lebanese family with a rapidly fatal syndrome consisting of fetal akinesia deformation sequence (FADS; see 208150), inguinal hernias, hearing loss, and myopathic changes biochemically characterized by elevated glycogen content, absent branching enzyme (607839), and decreased activity of phosphorylase-a (see PYGM, 608455) in skeletal muscle.
The involvement of the tibia was severe with pseudarthrosis and phenomenal discrepancy in length of the fibula, the head of which was at the level of the distal part of the femoral diaphysis. In the Nievergelt syndrome (163400), both the tibia and the fibula are severely affected.
Specifically, there was no unusual susceptibility to infections, bleeding diathesis, or hyperextensibility of joints or skin, as has been observed in a form of Ehlers-Danlos syndrome with fibronectin abnormalities (225310).
Progressive deafness with stapes fixation , also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes.
Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Epidemiology The prevalence of symptomatic otosclerosis is estimated as 0.1 to 0.5% of the population in the United-States and Western Europe, thus this is not a rare disease. The prevalence of otosclerosis appears to be lower in the Chinese, Japanese, and Latin American populations, and is much lower in the Black population. Tympanosclerosis occurs in 9 to 38% of chronic otitis media cases. The prevalence of Paget's disease associated with temporal bone involvement is estimated as 0.2 to 1% of Caucasian adults.
See also [ edit ] Undernutrition Calorie restriction References [ edit ] ^ " hyperalimentation " at Dorland's Medical Dictionary External links [ edit ] Media related to Hyperalimentation at Wikimedia Commons v t e Obesity Overweight Childhood obesity Abdominal obesity Weight gain Obesity hypoventilation syndrome Bariatric surgery Obesity and walking Overnutrition
Kirby et al. (2005) concluded that this combination of features likely constituted a previously unrecognized syndrome inherited as an autosomal recessive trait.
Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Clinical Features Esser (1939) reported 4 affected sibs (2 males, 2 females) and an affected male first cousin. Boo-Chai (1965) described 3 cases in sibs of Asiatic Indian descent. A dominant form of bifid nose without hypertelorism (109740) has been proposed. Ocular hypertelorism (sometimes a dominant) is occasionally associated with bifid nose but the genetics of the combination is unknown. Bifid nose may also be seen with frontonasal dysplasia (136760). Nose - Bifid nose Inheritance - Autosomal recessive ▲ Close
Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.
A bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting in 2 complete half noses. It is often associated with hypertelorbitism and midline clefts of the lip . The airway usually is adequate despite the cosmetic appearance associated with the condition. Both autosomal recessive and autosomal dominant inheritance of a bifid nose has been observed.
Description Alar clefts most commonly occur in association with cleft lip and/or other craniofacial anomalies. The basic embryonic mechanism in alar clefts involves failure of fusion between the medial and the lateral nasal processes during the sixth to tenth weeks. The medial process gives rise to one-half of the nasal septum and the medial crus of the lower lateral alar cartilage, and the lateral process gives rise to the external wall of the nose, nasal bones, upper lateral cartilage, alae, and lateral crus of the lower lateral cartilage. The dorsum and apex of the nose, which are derived from the frontonasal process, are usually well preserved in patients with isolated alar cleft (summary by Richieri-Costa and Guion-Almeida, 2009). Clinical Features Richieri-Costa and Guion-Almeida (2009) reported 5 sporadic cases of isolated alar cleft and reviewed 12 previously published cases.
Woolly hair nevus Specialty Medical genetics Woolly hair nevus (alternatively spelled "Wooly hair nevus") is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly . [1] See also [ edit ] Woolly hair Naxos syndrome Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A number sign (#) is used with this entry because of evidence that epidermal nevus can result from somatic mosaicism for mutations in the FGFR3 gene (134934), the PIK3CA gene (171834), and the RAS genes, including KRAS (190070), HRAS (190020), and NRAS (164790). Description Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow.
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
Graham and Allanson (1999) described congenital cholesteatoma and malformations of the facial nerve in association with the branchiootorenal syndrome (BOR; 113650). They reviewed information on the incidence, clinical characteristics, diagnosis, and pathogenesis of congenital cholesteatoma.
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity.
Clinical description Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes).
In addition, patients exhibited a pyramidal syndrome, including brisk upper limb and knee reflexes and brisk Hoffman and palmo-mental reflexes, despite severe muscle wasting.
Aaron, M.D. (1994) v t e Intensive care medicine Health science Medicine Medical specialities Respiratory therapy General terms Intensive care unit (ICU) Neonatal intensive care unit (NICU) Pediatric intensive care unit (PICU) Coronary care unit (CCU) Critical illness insurance Conditions Organ system failure Shock sequence SIRS Sepsis Severe sepsis Septic shock Multiple organ dysfunction syndrome Other shock Cardiogenic shock Distributive shock Anaphylaxis Obstructive shock Neurogenic shock Spinal shock Vasodilatory shock Organ failure Acute renal failure Acute respiratory distress syndrome Acute liver failure Respiratory failure Multiple organ dysfunction syndrome Neonatal infection Polytrauma Coma Complications Critical illness polyneuropathy / myopathy Critical illness–related corticosteroid insufficiency Decubitus ulcers Fungemia Stress hyperglycemia Stress ulcer Iatrogenesis Methicillin-resistant Staphylococcus aureus Oxygen toxicity Refeeding syndrome Ventilator-associated lung injury Ventilator-associated pneumonia Dialytrauma Diagnosis Arterial blood gas Catheter Arterial line Central venous catheter Pulmonary artery catheter Blood cultures Screening cultures Life-supporting treatments Airway management Chest tube Dialysis Enteral feeding Goal-directed therapy Induced coma Mechanical ventilation Therapeutic hypothermia Total parenteral nutrition Tracheal intubation Drugs Analgesics Antibiotics Antithrombotics Inotropes Intravenous fluids Neuromuscular-blocking drugs Recombinant activated protein C Sedatives Stress ulcer prevention drugs Vasopressors ICU scoring systems APACHE II Glasgow Coma Scale PIM2 SAPS II SAPS III SOFA Physiology Hemodynamics Hypotension Level of consciousness Acid–base imbalance Water-electrolyte imbalance Organisations Society of Critical Care Medicine Surviving Sepsis Campaign European Society of Paediatric and Neonatal Intensive Care Related specialties Anesthesiology Cardiology Internal medicine Neurology Pediatrics Pulmonology Surgery Traumatology
Esophageal food bolus obstruction Other names Steakhouse syndrome [1] Endoscopic image of patient with esophageal food bolus obstruction due to a grape in the setting of eosinophilic esophagitis Specialty Emergency medicine , general surgery , gastroenterology An esophageal food bolus obstruction is a medical emergency caused by the obstruction of the esophagus by an ingested foreign body . ... The use of glucagon , while common, has not been found to be useful. [2] Contents 1 Signs and symptoms 2 Risk factors 3 Treatment 3.1 Conservative 3.2 Endoscopic 4 References 5 External links Signs and symptoms [ edit ] Many foods can lodge themselves in the esophagus , but the most common are meats such as steak , poultry , or pork [3] leading to the colourful description of the phenomenon as steakhouse syndrome. [1] People with food bolus obstruction typically display acute dysphagia (difficulty swallowing), often to the point that they cannot even swallow their saliva , leading to drooling. ... Siewert (December 1989). "The "steakhouse syndrome". Primary and definitive diagnosis and therapy". ... PMID 17914050 . ^ Chae HS, Lee TK, Kim YW, et al. (2002). "Two cases of steakhouse syndrome associated with nutcracker esophagus".
The term is derived from the Greek word hubrizein ( ὑβρίζειν ), meaning "to commit an outrage against someone" (ultimately derived from hubris ὕβρις , " hubris "), and philo , meaning "having a strong affinity/preference for". [1] In popular culture, this phenomenon is also known as " Bonnie and Clyde syndrome". [2] Many high-profile criminals, particularly those who have committed atrocious crimes, receive " fan mail " in prison that is sometimes amorous or sexual, presumably as a result of this phenomenon. In some cases, admirers of these criminals have gone on to marry the object of their affections in prison. [3] [4] Contents 1 Lexicology 2 Causes 3 Examples 4 References 5 Further reading Lexicology [ edit ] The term is derived from the Greek word ὑβρίζειν hubrizein , meaning "to commit an outrage against someone" (ultimately derived from ὕβρις hubris " hubris "), and philo , meaning "having a strong affinity/preference for". [5] In popular culture, this phenomenon is also known as " Bonnie and Clyde Syndrome". [6] Women who write pen letters or even pursue men who are incarcerated for a crime are sometimes referred to as a prison groupie . [7] [8] In its broadest sense, hybristophilia includes attraction towards partners who displayed dark triad personality traits. [9] Causes [ edit ] Some speculations have been offered as to the cause of hybristophilia. ... ISBN 9780131703506 . ^ "Bonnie and Clyde Syndrome Is a Real Thing - Nerve" . Internet Archive. ... ISBN 9780131703506 . ^ "Bonnie and Clyde Syndrome Is a Real Thing - Nerve" . Internet Archive.
Wobbler disease in horses [ edit ] Wobbler disease or wobbler's syndrome is a broad category of cervical disorders in the horse, including the conditions listed above, as well as equine wobbles anemia and cervical vertebral myelopathy , spinal cord compression (sometimes referred to colloquially among horse owners as " cervical arthritis " due to the arthritis that accumulates in facets). ... "Surgery for disc-associated wobbler syndrome in the dog--an examination of the controversy" . ... PMID 11791771 . ^ Sumano H, Bermudez E, Obregon K (2000). "Treatment of wobbler syndrome in dogs with electroacupuncture". ... PMID 21916764 . ^ http://www.vetmed.ucdavis.edu/ceh/local_resources/pdfs/pubs-HR29-2-bkm-sec.pdf ^ https://www.colovma.org/wp-content/uploads/sites/8/2016/09/Story_CervicalDisorders.pdf External links [ edit ] Wikimedia Commons has media related to Wobbler disease . Video of a dog with wobbler syndrome treated with the artificial disc replacement
The deficiency of heparin sulfamidase and the excess of heparan sulfate in the urine, both findings consistent with Sanfilippo syndrome type A (252900), suggested the presence of 2 disorders. Hu et al. (1990) used complementation studies to show that the patient reported by Wenger et al. (1986) had both Sanfilippo syndrome and beta-mannosidosis. Cooper et al. (1986) reported an Indian-Hindu man with beta-mannosidosis; his parents were not related. ... Sedel et al. (2006) reported an 18-year-old male patient with beta-mannosidosis who exhibited motor and vocal tics since childhood, attention deficit, hyperactivity, impulsivity, and aggressiveness consistent with Gilles de la Tourette syndrome (GTS; 137580). He also had bilateral hearing loss and mild cognitive impairment. ... INHERITANCE - Autosomal recessive HEAD & NECK Face - Mild facial dysmorphism may occur Ears - Deafness Eyes - Tortuosity of conjunctival vessels CARDIOVASCULAR Vascular - Tortuosity of conjunctival vessels SKIN, NAILS, & HAIR Skin - Angiokeratoma Skin Histology - Cytoplasmic vacuolization MUSCLE, SOFT TISSUES - Thenar amyotrophy (rare) NEUROLOGIC Central Nervous System - Mental retardation - Speech impairment - Hypotonia - Seizures (rare) - Gilles de la Tourette syndrome (reported in 1 patient) Peripheral Nervous System - Demyelinating peripheral neuropathy, progressive (rare) Behavioral Psychiatric Manifestations - Aggression - Hyperactivity IMMUNOLOGY - Recurrent infections LABORATORY ABNORMALITIES - Decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes - Increased urinary disaccharides (mannosyl-N-acetylglucosamine) MOLECULAR BASIS - Caused by mutation in the beta-mannosidase gene (MANBA, 609489.0001 ) ▲ Close
Hearing loss and angiokeratomas are common features of the disease. [3] [2] Contents 1 Symptoms and signs 2 Cause 3 Mechanism 4 Diagnosis 4.1 Differential diagnosis 5 Treatment 6 See also 7 References 8 Further reading 9 External links Symptoms and signs [ edit ] Angiokreatoma The initial affected individual described in 1986 had a complex phenotype , and was later found to have both beta-mannosidosis and Sanfilippo syndrome. [5] People have been described with a wide spectrum of clinical presentations from infants and children with intellectual disability to adults who present with isolated skin findings ( angiokeratomas ). [5] Most cases are identified in the first year of life with respiratory infections , hearing loss and intellectual disability .
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.