Anomalous conduction via accessory pathways (APs) create the re-entry circuit (which are also called bypass tracts), that exist between the atria and ventricles. Wolff–Parkinson–White syndrome (WPW) is an example of anatomically defined re-entry. WPW syndrome is an atrioventricular re-entrant tachycardia (AVRT), secondary to an accessory pathway that connects the epicardial surfaces of the atrium and ventricle along the AV groove. [4] The majority of time symptomatic WPW fits the definition of AVRT ( Supraventricular tachycardia ) however AVNRT (dual AV nodal physiology) exist in ~10% of patients with WPW syndrome creating the possibility of spontaneous atrial fibrillation degenerating into ventricular fibrillation (VF). ... Supraventricular Tachycardia: Atrioventricular Nodal Reentry and Wolff-Parkinson-White Syndrome. ^ Goodman & Gilman's The Pharmacological Basis of Therapeutics. 12th ed.
The mass is usually in the neck (hence the name "nuchal-type"), but it can be seen in the extremities, lumbosacral area, buttocks , and face. [2] [3] There is a strong association with diabetes mellitus and Gardner syndrome ; in fact, it may be the initial manifestation of Gardner syndrome. [4] Pathology [ edit ] A low power of a nuchal-type fibroma showing entrapped fat. ... However, in patients with Gardner syndrome, up to 45% will develop desmoid-type fibromatosis at other sites, and so this should be searched for and excluded. ... There is a slight male predilection, although this is not seen in syndrome associated patients. The most common site is the posterior neck, but may also be seen in other sites (extremities, lumbosacral area, buttocks, face). [1] See also [ edit ] Fibrous Lesions References [ edit ] ^ a b c d e f Michal, M.; Fetsch, J.
This is characteristic of nephrotic syndromes . [ citation needed ] Diagnosis [ edit ] The clinical presentation of MesPGN is varied, although persistent or recurring microscopic or macroscopic hematuria with mild proteinuria is most common. [ citation needed ] Studies are performed in most patients to exclude known causes. ... Please update this article to reflect recent events or newly available information. ( September 2020 ) Of the eleven known cases of nephrotic syndrome, three early cases went untreated. ... "Other Glomerular Disorders and Antiphospholipid Syndrome". Comprehensive Clinical Nephrology . pp. 335–343. doi : 10.1016/B978-0-323-05876-6.00027-7 . ... External links [ edit ] Classification D ICD - 10 : N00.3-N08.3 DiseasesDB : 31877 v t e Lupus nephritis Class I ( Minimal mesangial glomerulonephritis ) Class II ( Mesangial proliferative lupus nephritis ) Class III ( Focal proliferative nephritis ) Class IV ( Diffuse proliferative nephritis ) Class V ( Membranous nephritis ) Class VI ( Glomerulosclerosis ) v t e Disease of the kidney glomerules Primarily nephrotic Non-proliferative Minimal change Focal segmental Membranous Proliferative Mesangial proliferative Endocapillary proliferative Membranoproliferative/mesangiocapillary By condition Diabetic Amyloidosis Primarily nephritic , RPG Type I RPG / Type II hypersensitivity Goodpasture syndrome Type II RPG / Type III hypersensitivity Post-streptococcal Lupus diffuse proliferative IgA Type III RPG / Pauci-immune Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis General glomerulonephritis glomerulonephrosis This article about a disease of the genitourinary system is a stub .
Many experts consider it a variant of minimal change disease , but some experts believe it is a separate condition. It may present with nephrotic syndrome , which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... Molecular Genetics Jamain et al. (2003) reported a Swedish family in which 1 brother had typical autism and another brother had Asperger syndrome (ASPGX2; 300497). Both patients had a frameshift mutation in the NLGN4 gene (300427.0001), located at Xp22.3. ... The patient's 9-year-old brother, who carried diagnoses of Tourette syndrome (see 309840) and attention deficit- hyperactivity disorder with mild cognitive deficits, also carried the deletion.
Among violinists and violists, Garrod's pads apparently arise as a protective mechanism for the skin and subcutaneous tissues above the tendons; Bird notes that they do not protect against external trauma unlike most calluses. [4] Patients with Dupuytren's contracture are four times more likely to have coexisting Garrod's pads. [5] [6] See also [ edit ] Knuckle pads Harpist's finger Fiddler's neck Cellist's chest Cello scrotum Paget-Schroetter syndrome List of cutaneous conditions List of eponymously named medical signs References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytis palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant. Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship. Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.' Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family and identified a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.
CRDs are most frequently nonsyndromic, however they may also be part of several syndromes, such as Alström syndrome, Bardet-Biedl syndrome and Spinocerebellar Ataxia Type 7. ... Differential diagnosis Differential diagnosis includes other hereditary cone disorders (including achrompatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors).
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-18 (CORD18) is caused by homozygous mutation in the RAB28 gene (612994) on chromosome 4p15. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Roosing et al. (2013) studied a German family in which 3 sibs were diagnosed with cone-rod dystrophy in the second decade of life, with rapidly deteriorating visual acuities and high myopia. Funduscopy showed hyperpigmentation of the fovea, and autofluorescence revealed a slightly hyperfluorescent fovea. Optical coherence tomography (OCT) showed altered photoreceptors in the fovea but intact peripheral photoreceptors.
There are over 30 types of CRD caused by mutations in several different genes that can be inherited in many different ways including autosomal recessive, autosomal dominant, X-linked or mitochondrial patterns. CRDs are usually non-syndromic, but they may also be part of several syndromes.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Khaliq et al. (2000) described a 2-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy. All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color discrimination. Funduscopy revealed marked macular degeneration and attenuation of retinal vessels; mild pigmentary changes were present in the retinal periphery. Ismail et al. (2006) reexamined affected members of the Pakistani family with CORD8 previously described by Khaliq et al. (2000).
A number sign (#) is used with this entry because X-linked atrophic macular degeneration can be caused by mutation in the RPGR gene (312610). Clinical Features Ayyagari et al. (2002) described a family in which 10 males had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) showed normal cone and rod responses in some affected males despite advanced macular degeneration. Mapping In a family with X-linked recessive atrophic macular degeneration, Ayyagari et al. (2002) mapped the disease locus to Xp21.1-p11.4, the region where the RPGR gene is situated.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of age. Affected individuals had gradual visual impairment and photophobia; ophthalmoscopy revealed typical signs of CORD including narrowing of retinal vessels, scattered bone-spicule pigmentation in the midperipheral retina, retinal pigment epithelium atrophy, and optic disc pallor. Electroretinography showed reduced photopic and scotopic responses, and visual field examination demonstrated central scotoma. Mapping In a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy (adCORD), in which known loci associated with adCORD had been excluded, Kamenarova et al. (2013) performed a genomewide analysis using short tandem repeat markers and obtained a maximum lod score of 3.31 for a 6.7-Mb region on chromosome 10q26 between markers D10S1757 and D10S1782.
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-3 (CORD3) is caused by homozygous or compound heterozygous mutation in the ABCA4 (601691) on chromosome 1p22. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Klevering et al. (2002) analyzed phenotype information from the charts of 12 patients with autosomal recessive CORD caused by mutations in the ABCA4 gene and found that although the clinical presentation was heterogeneous, all patients experienced visual loss early in life, impaired color vision, and a central scotoma. Klevering et al. (2002) concluded that given the wide clinical spectrum of CORD-like phenotypes associated with ABCA4 mutations, detailed clinical subclassification is difficult and may not be very useful. Fishman et al. (2003) examined 30 patients with autosomal recessive CORD, 16 of whom harbored plausible disease-causing variations in the ABCA4 gene.
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-2 (CORD2) is caused by heterozygous mutation in the CRX gene (602225) on chromosome 19q13. Description Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998).
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Mapping Warburg et al. (1991) described a 20-year-old man with mental retardation and electrophysiologically demonstrated cone-rod dystrophy since childhood. He had hypogonadism and a central postsynaptic hearing impairment. Particularly noteworthy was the finding of deletion of the 18q21.1-qter segment. Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. This led Warburg et al. (1991) to suggest that a locus for cone-rod dystrophy may be located in the segment 18q21.1-q21.3.
A number sign (#) is used with this entry because of evidence that X-linked cone-rod dystrophy-3 (CORDX3) is caused by mutation in the CACNA1F gene (300110) on chromosome Xp11. Description Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013). For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020.
A number sign (#) is used with this entry because of evidence that retinal dystrophy with early macular involvement (CORD21) is caused by homozygous or compound heterozygous mutation in the DRAM2 gene (613360) on chromosome 1p13. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features El-Asrag et al. (2015) studied a 5-generation consanguineous Pakistani family segregating autosomal recessive adult-onset retinal dystrophy with early macular involvement. Affected individuals described increasing difficulty with close visual tasks beginning in their thirties. There was progressive loss of visual acuity in all symptomatic individuals; light sensitivity and night blindness were inconsistent features of advanced disease.
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-9 (CORD9) is caused by homozygous or compound heterozygous mutation in the ADAM9 gene (602713) on chromosome 8p11. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Danciger et al. (2001) described a consanguineous Brazilian family segregating autosomal recessive CORD. Affected family members had childhood-onset visual acuity impairment, which progressed over decades to major loss of central and then peripheral visual function. In the 2 adult family members tested, visual acuity was 20/200 with a preserved midperipheral crescent on visual field testing.
A number sign (#) is used with this entry because of evidence that retinal cone dystrophy-4 (RCD4) is caused by homozygous mutation in the CACNA2D4 gene (608171) on chromosome 12p13. Clinical Features Wycisk et al. (2006) described 2 sibs with a recessive form of retinal cone dystrophy (RCD4). Symptoms were minimal except for slowly progressive reduction in visual acuity and moderate photophobia. Fundus examination showed nearly normal appearance in both. Color discrimination testing was consistent with defective color vision, and full-field electroretinography (ERG) showed moderately attenuated rod photoreceptor responses and markedly diminished cone responses. Although rod and cone ERGs suggested incomplete stationary night blindness, the authors noted that the disorder in these patients was progressive, not stationary, and concluded that their disease represented a mild cone dystrophy.
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-11 (CORD11) is caused by heterozygous mutation in the RAXL1 gene (RAX2, 610362) on chromosome 19p13. For a phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Yang et al. (2015) studied a 4-generation family in which 6 members had retinal dystrophy. All affected individuals presented with declining visual acuity, although the age at onset of symptoms varied widely, with vision loss reported as early as age 15 years and as late as age 60. Examination of all 4 living patients revealed relative central scotoma on kinetic visual fields and obvious macular changes consistent with cone or cone-rod dystrophy, including small yellow macular deposits and/or macular pigment mottling, as well as waxy disc pallor and attenuated vasculature indicating diffuse dystrophy.
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-7 (CORD7) is caused by heterozygous mutation in the RIMS1 gene (606629) on chromosome 6q13. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Kelsell et al. (1998) described a 4-generation British family with autosomal dominant cone-rod dystrophy. Affected members first became aware of reduced color vision and visual acuity between the ages of 20 and 40 years. As the disorder progressed, they reported difficulty seeing in bright light.
A number sign (#) is used with this entry because X-linked cone-rod dystrophy-1 (CORDX1) and cone dystrophy-1 (COD1) are caused by mutation in an alternative terminal exon 15 (ORF15) of the RPGR gene (312610), which maps to chromosome Xp11. Description X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994).
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-10 (CORD10) can be caused by compound heterozygous mutation in the SEMA4A gene (607292) on chromosome 1q22. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Molecular Genetics Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa (RP35; 610282), 25 with cone-rod dystrophy, and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 RP and 2 CORD patients. None of the mutations were found in 100 ethnically matched controls. INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Loss of visual acuity, progressive - Loss of color vision, progressive - Night blindness - Loss of peripheral vision - Photophobia, severe - Epiphora, severe - Granular fundus - Macular degeneration - Retinal pigmentation, peripheral MISCELLANEOUS - Allelic with retinitis pigmentosa 35 ( 610282 ) MOLECULAR BASIS - Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-19 (CORD19) is caused by homozygous or compound heterozygous mutation in the TTLL5 gene (612268) on chromosome 14q24. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Sergouniotis et al. (2014) studied 5 patients from 4 families with 'cone-first' retinal dystrophy who had mutations in the TTLL5 gene (see MOLECULAR GENETICS). Three unrelated patients had an almost identical clinical and electrophysiologic phenotype, with central and peripheral cone dysfunction and preservation of rod photoreceptor function. Fundus autofluorescence imaging revealed a high-density concentric perifoveal ring surrounding irregular foveal autofluorescence; outside this ring, normal signal was observed.
A number sign (#) is used with this entry because autosomal recessive cone-rod dystrophy-13 (CORD13) is caused by mutation in the RPGRIP1 gene (605446). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Hameed et al. (2003) reported 4 consanguineous Pakistani families with cone-rod dystrophy. Two of the families were large: 1 had 8 affected members over 2 generations, and the other had 8 affected members over 3 generations. The other 2 families had 2 affected sibs each. In all affected patients, there was deterioration in central vision and colorblindness from an early age, and rapid loss of vision between ages 14 and 16 years (visual acuity 1/60).
A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.
Micropenis occurs in about 0.6% of males. [2] Contents 1 Causes 2 Treatment 2.1 Hormone treatment 2.2 Surgery 3 See also 4 References 5 External links Causes Measuring an erect micropenis Of the abnormal conditions associated with micropenis, most are conditions of reduced prenatal androgen production or effect, such as abnormal testicular development (testicular dysgenesis), Klinefelter syndrome , Leydig cell hypoplasia , specific defects of testosterone or dihydrotestosterone synthesis ( 17,20-lyase deficiency , 5α-reductase deficiency ), androgen insensitivity syndromes , inadequate pituitary stimulation ( gonadotropin deficiency), and other forms of congenital hypogonadism . Micropenis can also occur as part of many genetic malformation syndromes that do not involve the sex chromosomes. ... External links Classification D ICD - 9-CM : 752.64 OMIM : 607306 DiseasesDB : 14839 External resources eMedicine : ped/1448 Media related to Micropenis at Wikimedia Commons Into the Hands of Babes , by Melissa Hendricks, Johns Hopkins Magazine Effect of penile size on nocturnal erections: evaluation with NPTR testing with men having micropenis from the International Journal of Impotence Research v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism
A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.
Nutritional counseling is also recommended. [4] Treatment is often similar to those administered for Wenicke-Korsakoff syndrome or for alcoholism . [9] Type A has 21% mortality rate and an 81% long-term disability rate. ... Rivista di patologia nervosa e mentale, 1903, 8 (12): 544–549. ^ "Marchiafava-Bignami Syndrome. MBD information" . patient.info . ... External links [ edit ] Classification D ICD - 10 : G37.1 ICD - 9-CM : 341.8 MeSH : D054319 DiseasesDB : 31494 External resources eMedicine : neuro/204 Orphanet : 221074 MedPix eMedicine overview v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom? ] treatment Management of multiple sclerosis Alemtuzumab Cladribine Dimethyl fumarate Fingolimod Glatiramer acetate Interferon beta-1a Interferon beta-1b Mitoxantrone Natalizumab Ocrelizumab Ozanimod Siponimod Teriflunomide Other treatments Former Daclizumab Multiple sclerosis research Demyleinating diseases Autoimmune Multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Inflammatory Acute disseminated encephalomyelitis MOG antibody disease Balo concentric sclerosis Marburg acute multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Tumefactive multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus–Merzbacher disease Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts CAMFAK syndrome Other Central pontine myelinolysis Marchiafava–Bignami disease Mitochondrial DNA depletion syndrome Other List of multiple sclerosis organizations List of people with multiple sclerosis Multiple sclerosis drug pipeline Pathophysiology
Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis , aphasia , abnormal movements, and ataxia may sometimes progress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown.
A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.
While the mechanism or pathogenesis is not completely understood mostly due to its rarity, the medical community has developed a new interest in learning more about this syndrome. Dr. Craig S. Kitchens first described TS in six case studies. In these cases he described a collection of similar features observed in six patients, suggesting this may be accounted for by a new syndrome . Contents 1 Presentation 2 Diagnosis 2.1 Hypercoagulable states 3 Treatment 4 References Presentation [ edit ] Thrombotic Storm has been seen in individuals of all ages and races. ... "Relapsing Catastrophic Antiphospholipid Syndrome: Report of Three Cases". Seminars in Arthritis and Rheumatism . 37 (6): 366–72. doi : 10.1016/j.semarthrit.2007.08.001 . ... "Pathophysiology of the catastrophic antiphospholipid syndrome (CAPS)" . American Journal of Hematology . 65 (2): 154–9. doi : 10.1002/1096-8652(200010)65:2<154::AID-AJH11>3.0.CO;2-A . ... "The catastrophic antiphospholipid syndrome 1996: Acute multi-organ failure associated with antiphospholipid antibodies: A review of 31 patients".
Neonatal Bowel obstruction Other names Neonatal intestinal obstruction Specialty Neonatology Neonatal bowel obstruction (NBO) or neonatal intestinal obstruction is the most common surgical emergency in the neonatal period . [1] It may occur due to a variety of conditions and has an excellent outcome based on timely diagnosis and appropriate intervention . [2] Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 See also 8 References 9 Further reading 10 External links Presentation [ edit ] The neonatal bowel obstruction is suspected based on polyhydramnios in utero, bilious vomiting, failure to pass meconium in the first day of life, and abdominal distension . [3] The presentations of NBO may vary. [4] It may be subtle and easily overlooked on physical examination or can involve massive abdominal distension, respiratory distress and cardiovascular collapse . [4] Unlike older children, neonates with unrecognized intestinal obstruction deteriorate rapidly. [5] Cause [ edit ] Causes of bowel obstruction in neonates include: [ citation needed ] Hirschprung's disease Meconium ileus Meconium plug syndrome Intussusceptions Duodenal/ileal/colonic atresia Neonatal small left colon syndrome Diagnosis [ edit ] Neonatal bowel obstruction is grouped into two general categories: high, or proximal, obstruction and low, or distal obstruction, both of which are suspected by failure to pass meconium at birth. ... The differential for low obstruction is ileal atresia , meconium ileus , meconium plug syndrome and Hirschsprung disease . In cases of meconium ileus or ileal atresia, the colon distal to the obstruction is hypoplastic, usually less than 1 cm in caliber, as development of normal colonic caliber in utero is due to the passage of meconium, which does not occur in either of these conditions. ... External links [ edit ] Classification D External resources eMedicine : article/2066380 v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease
Although statistically people with dextrocardia do not have any medical problems from the disorder, they may be prone to a number of bowel, esophageal, bronchial and cardiovascular disorders (such as double outlet right ventricle, endocardial cushion defect and pulmonary stenosis). [3] Certain cardiovascular and pulmonary disorders related to dextrocardia can be life-threatening if left unchecked (see reference). Kartagener syndrome may also be present in patients with dextrocardia but this must be in the setting of situs inversus and may include male infertility. [4] Dextrocardia with situs solitus In contrast to dextrocardia situ inversus which is only rarely associated with congenital heart disease, dextrocardia situs solitus is often associated with intracardiac anomalies. ... "Dextrocardia" . ^ Renee A, Laux MS. "Kartagener Syndrome" . Archived from the original on 2012-11-05 . ... External links [ edit ] Classification D ICD - 10 : Q24.0 ICD - 9-CM : 746.87 MeSH : D003914 DiseasesDB : 3617 External resources MedlinePlus : 007326 Dextrocardia at NIH 's Office of Rare Diseases Dextrocardia with situs inversus at NIH 's Office of Rare Diseases v t e Laterality Side Left Both Right General Ambidexterity In cognitive abilities Geschwind–Galaburda hypothesis In brain Brain asymmetry Dual brain theory Bicameralism In eyes Ocular dominance In hands Left-handedness Cross-dominance Right-handedness Handedness in boxing Southpaw stance Orthodox stance Handedness in people Musicians Handedness related to Sexual orientation Maths Handedness measurement Edinburgh Handedness Inventory Handedness genetics LRRTM1 In heart Levocardia Dextrocardia In major viscera Situs solitus Situs ambiguus Situs inversus In feet Footedness Footedness in surfing Regular foot Goofy foot v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself.
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.