Int Urol Nephrol 46 Suppl 1: 11–21. van Koeveringe, G. A., K. L. Rademakers, et al. (2014). "Detrusor underactivity: Pathophysiological considerations, models and proposals for future research.
A number sign (#) is used with this entry because of evidence that keratoendotheliitis fugax hereditaria (KEFH) is caused by heterozygous mutation in the NLRP3 gene (606416) on chromosome 1q44. Description Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye.
On Peripheral smear fragmented Burr and helmet shaped RBC are seen [3] Treatment [ edit ] CP reduced plasma: Because platelets and cryoprecipitate are contraindicated as they facilitate further clot formation and RBC lysis. References [ edit ] ^ Lechner K, Obermeier HL (July 2012). "Cancer-related microangiopathic hemolytic anemia: clinical and laboratory features in 168 reported cases".
Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.
. ^ "Hedonophobia – Symptoms and Causes of Hedonophobia – Treatment" . v t e Simple living Practices Barter Cord-cutting DIY ethic Downshifting Dry toilet Fasting Forest gardening Freeganism Frugality Gift economy Intentional community Local currency Low-impact development No frills Off-the-grid Permaculture Regift Self-sufficiency Subsistence agriculture Sustainable living Sustainable sanitation Veganism Vegetarianism War tax resistance WWOOF Religious and spiritual Amish Aparigraha Asceticism Cynicism Detachment Distributism Jesus movement Mendicant Mindfulness Monasticism New Monasticism Plain dress Plain people Quakers Rastafari Temperance Testimony of simplicity Tolstoyan movement Twelve Tribes communities Secular movements Back-to-the-land Car-free Compassionate living Environmental Hippie Open Source Ecology Slow Small house Tiny house Transition town Notable writers Wendell Berry Ernest Callenbach G. K. Chesterton Duane Elgin Mahatma Gandhi Richard Gregg Tom Hodgkinson Harlan Hubbard Satish Kumar Helen Nearing Scott Nearing Peace Pilgrim Nick Rosen Dugald Semple E.
., 2001, Theropod paleopathology: a literature survey: In: Mesozoic Vertebrate Life, edited by Tanke, D. H., and Carpenter, K., Indiana University Press, p. 337-363.
Retrieved 3 December 2007 . ^ Rajaratnam K, Kumar PD, Sahasranam KV (2000). "Supernumerary nipple as a cutaneous marker of mitral valve prolapse in Asian Indians".
Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.
Rather extensive literature supporting dominant inheritance was reviewed by Gates (1946). Klinkerfuss (1924) found polymastia in 5 females in 4 generations. The extra breast consisted of a mass in one or both axillae which enlarged in pregnancy and lactation. In some, a nipple was associated with the adventitious breast tissue. It may have communicated with the main breast tissue because it swelled before nursing and shrunk with nursing. Pierre Marie (1893) also observed supernumerary breasts in 4 generations and noted an association with twinning.
A number sign (#) is used with this entry because cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome) is caused by homozygous mutation in the SNAP29 gene (604202) on chromosome 22q11. Description CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011). Clinical Features Sprecher et al. (2005) described a clinical syndrome in 7 individuals from 2 unrelated consanguineous Arab Muslim families living in northern Israel.
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Epidemiology It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinical description Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Etiology It is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion. Genetic counseling The disease is inherited as an autosomal recessive condition.
Actual rates of hypoglycemia associated with a fibrous tumor are quite rare (a 1981 study of 360 solitary fibrous tumors of the lungs found that only 4% caused hypoglycemia [8] ), and are linked to large tumors with high rates of mitosis . [9] Removal of the tumor will normally resolve the symptoms. [1] [9] Tumors causing DPS tend to be quite large; [10] in one case a 3 kg (6.6 lb), 23×21×12 cm (9.1×8.3×4.7 in) mass was removed, sufficiently large to cause a collapsed lung . [5] In X-rays , they appear as a single mass with visible, defined borders, appearing at the edges of the lungs or a fissure dividing the lobes of the lungs. [10] Similar hypoglycemic effects have been related to mesenchymal tumors. [6] References [ edit ] ^ a b Balduyck B, Lauwers P, Govaert K, Hendriks J, De Maeseneer M, Van Schil P (July 2006).
References [ edit ] ^ Kumar, Sunil; Gupta, Sachin; Naglot, Shakuntala; Sahni, J. K. (2013). "Bilateral Choanal Atresia: Is it Really a Surgical Emergency?"
Choanal atresia is a threat to life because young infants cannot establish the habit of mouth breathing. About 8% of cases are familial (Gorlin, 1982). It is probably a multifactorial trait like cleft lip and cleft palate. The fact that both affected successive generations and affected single generations have been reported supports this (Lang, 1912; Phelps, 1926; McGovern, 1950). Ransome (1964) found 12 families with 2 or more members affected. One of these, in which 4 of 5 sibs were affected, was described by him. Most reports of multiple affected relatives have concerned sibs. However, affected persons in the family reported by Lang (1912) included, in addition to the proband, the mother, sister and maternal aunt and perhaps a brother.
Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. Epidemiology CA has a birth prevalence of approximately 1/11,630 in Europe and it follows a ''2:1'' ratio, namely female to male and unilateral to bilateral CA. Clinical description CA is a congenital disorder that consists of a unilateral or bilateral bony or membranous septum between the nose and nasopharynx. In bilateral CA (see this term), neonates present at birth with acute respiratory distress requiring orotracheal intubation or placement of an oropharyngeal cannula. Nasotracheal intubation is not possible. Neonates with bilateral CA can also present with a history of multiple failed extubation attempts, especially in those with secondary airway issues.
. ^ a b c Pijpers, J; den Boer, ML; Essink, DR; Ritmeijer, K (February 2019). "The safety and efficacy of miltefosine in the long-term treatment of post-kala-azar dermal leishmaniasis in South Asia - A review and meta-analysis" .
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Epidemiology So far, only eight cases have been described in the literature. Clinical description Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Genetic counseling Transmission is autosomal recessive.
Lelis (1978, 1979) described 4 unrelated patients of eastern European origin with the association of ectodermal dysplasia and acanthosis nigricans. Lelis (1992) added 3 new cases to the literature. The 7 patients, 3 males and 4 females, ranged in age from 11 to 53 years, and all had hypotrichosis, hypohidrosis, and acanthosis nigricans. Two had perioral radial furrows, 5 had hypodontia, 4 had palmoplantar hyperkeratosis, and 5 had furrowed tongues. Three had nail dystrophy and 1 was mentally retarded. All 7 cases were sporadic, and no similar signs were found in close relatives. One patient had normal children. Steiner et al. (2002) reported a 31-year-old male patient with ectodermal dysplasia, acanthosis nigricans, hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early-onset loss of permanent dentition, perioral radial furrows, and mental retardation.
. ^ a b c d e f g Fowler, Murray; Mikota, Susan (September 2006). Murray E. Fowler, Susan K. Mikota (ed.). Biology, Medicine, and Surgery of Elephants .
