Only 1 of the twins had signs of the fetal hydantoin syndrome (FHS). Strickler et al. (1985) presented evidence suggesting a genetic predisposition to phenytoin-induced birth defects. ... Goldman et al. (1987) found that children with the fetal hydantoin syndrome had glucocorticoid receptor (138040) levels in circulating lymphocytes significantly higher than those of unaffected children with similar exposure to phenytoin. ... In all 4 cases, the mother was receiving phenytoin monotherapy, and, after birth, the infants had clinical findings compatible with the fetal hydantoin syndrome. The 15 fetuses with enzyme activity above 30% of the standard were not considered to be at risk, and all 15 neonates lacked any characteristics of the fetal hydantoin syndrome. Sabry and Farag (1996) suggested that hand anomaly in the fetal hydantoin syndrome can be unilateral acheiria at one extreme with nail/phalangeal hypoplasia at the other extreme. ... All 22 children of these 3 individuals showed a mean metabolic ratio of 6.6 (SD = 1.7), whereas a control group of 37 individuals showed a mean metabolic ratio of 3.7 (SD = 1.8). The fetal hydantoin syndrome has been observed in multiple sibs (e.g., Hanson et al., 1976).
Genetics [ edit ] Fazio–Londe disease is linked to a genetic mutation in the SLC52A3 gene on chromosome 20 ( locus : 20p13). [1] It is allelic and phenotypically similar to Brown–Vialetto–Van Laere syndrome . [1] [4] The condition is inherited in an autosomal recessive manner. [1] The gene encodes the intestinal riboflavin transporter (hRFT2). ... (September 2005). "Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio–Londe disease". ... "The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives" . ... PMID 23107375 . ^ Varadarajan, Poovazhagi; Thayanathi, Vimal; Pauline, LeemaC (2014). "Fazio Londe syndrome: A treatable disorder" . Annals of Indian Academy of Neurology . 0 (1): 87–9. doi : 10.4103/0972-2327.144283 . ... "The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives" .
Mutations in the SLC52A3 gene also cause Brown-Vialetto-Van Laere syndrome (BVVLS; 211530), a similar disorder with the additional feature of sensorineural hearing loss.
Rheumatism does not designate any specific disorder, but covers at least 200 different conditions, including arthritis and "non-articular rheumatism", also known as "regional pain syndrome" or "soft tissue rheumatism". [1] [2] There is a close overlap between the term soft tissue disorder and rheumatism. ... Major rheumatic disorders can be divided into 10 major categories based on the nomenclature and classification proposed by the American College of Rheumatology (ACR) in 1983, [6] and they are: Diffuse connective tissue diseases Rheumatoid arthritis Juvenile arthritis Systemic lupus erythematosus Sjögren syndrome Scleroderma Polymyositis Dermatomyositis Behçet's disease Relapsing polychondritis [7] Arthritis associated with spondylitis (i.e., spondarthritis) Ankylosing spondylitis Reactive arthritis Psoriatic arthritis [8] Osteoarthritis (i.c., osteoarthrosis, degenerative joint disease) Rheumatic syndromes associated with infectious agents (direct and indirect or reactive) Metabolic and endocrine diseases associated with rheumatic states Gout , pseudogout Neoplasms Neurovascular disorders Bone and cartilage disorders Extraarticular disorders Bursitis / Tendinitis of the shoulder, wrist, biceps, leg, knee cap (patella), ankle, hip, and Achilles tendon Capsulitis Miscellaneous disorders associated with articular manifestations Palindromic rheumatism has been theorized to be a form of rheumatoid arthritis . [9] Treatment [ edit ] A vast number of traditional herbal remedies have been recommended for "rheumatism". [10] Modern medicine recognises that the different rheumatic disorders have different causes (and several of them have multiple causes) and require different kinds of treatment. ... CS1 maint: multiple names: authors list ( link ) ^ "eMedicine - Nonarticular Rheumatism/Regional Pain Syndrome : Article by Daniel Muller" . 2019-01-24. ... Quote "The meaning of a disease of the joints is first recorded in 1688, because rheumatism was thought to be caused by an excessive flow of rheum into a joint thereby stretching ligaments" Further reading [ edit ] The Rheumatology Handbook (WSPC 2012) ISBN 978-1-84816-320-1 External links [ edit ] American College of Rheumatology National Institute of Arthritis and Musculoskeletal and Skin Diseases - US National Institute of Arthritis and Musculoskeletal and Skin Diseases Classification D ICD - 10 : M79.0 ICD - 9-CM : 729.0 MeSH : D012216 v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads Authority control GND : 4049836-0 NDL : 00569901
Routine monitoring for side effects of medications used in treatment (such as Stevens-Johnson syndrome, liver toxicity, neutropenia seen with carbamazepine). ... Genetic counseling. SCN9A neuropathic pain syndromes are inherited in an autosomal dominant manner. ... Clinical Characteristics Clinical Description Pain is the predominant symptom of SCN9A neuropathic pain syndromes. Triggers for episodes of pain vary with the specific syndrome. ... Warmth is an essential part of the syndrome. During the attacks, the extremities appear red or purple and may be swollen. ... It is likely that SCN9A neurogenic pain syndromes are underdiagnosed or often misdiagnosed.
Wilms' tumor has many causes, which can broadly be categorized as syndromic and non-syndromic. Syndromic causes of Wilms' tumor occur as a result of alterations to genes such as the Wilms Tumor 1 (WT1) or Wilms Tumor 2 (WT2) genes, and the tumor presents with a group of other signs and symptoms. [5] Non-syndromic Wilms' tumor is not associated with other symptoms or pathologies. [5] Many, but not all, cases of Wilms' tumor develop from nephrogenic rests, which are fragments of tissue in or around the kidney that develop before birth and become cancerous after birth. In particular, cases of bilateral Wilms' tumor, as well as cases of Wilms' tumor derived from certain genetic syndromes such as Denys-Drash syndrome , are strongly associated with nephrogenic rests. [5] Most nephroblastomas are on one side of the body only and are found on both sides in less than 5% of cases, although people with Denys-Drash syndrome mostly have bilateral or multiple tumors. [6] They tend to be encapsulated and vascularized tumors that do not cross the midline of the abdomen. ... Most cases do not have mutations in any of these genes. [10] Syndrome Name Associated Genetic Variant Risk for Wilms tumor Description of Syndrome WAGR syndrome (Wilms tumor, aniridia, genital anomalies, retardation) Gene deletion that includes both WT1 and PAX6 45–60% Characterized by Wilms tumor, aniridia (absence of iris), hemihypertrophy (one side of body larger than the other), genitourinary abnormalities, ambiguous genitalia, intellectual disability. [11] Denys-Drash syndrome (DDS) WT1 (exon 8 and 9) 74% Characterized by kidney diseases since birth leading to early-onset kidney failure, ambiguous genitalia (intersex disorders). [11] Beckwith-Wiedemann Syndrome Abnormal regulation of chromosome 11p15.5 7% Characterized by macrosmia (large birth size), macroglossia (large tongue), hemihypertrophy (one side of the body is larger), other tumors in body, omphalocele (open abdominal wall) and visceromegaly (enlargement of organs inside abdomen). [11] An association with H19 has been reported. [12] H19 is a long noncoding RNA located on the short arm of chromosome 11 (11p15.5). ... "The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome". Journal of Pediatric Hematology/Oncology . 32 (6): 486–8. doi : 10.1097/MPH.0b013e3181e5e20d . ... "Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma" .
A number sign (#) is used with this entry because of evidence that susceptibility to Wilms tumor can be caused by mutation in the REST (600571) gene on 4q12. For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070). Molecular Genetics To identify predisposition genes for Wilms tumor, Mahamdallie et al. (2015) performed exome sequencing in 24 individuals with Wilms tumor from 12 families and identified 2 different frameshift mutations (600571.0001, 600571.0002) that segregated with the disease in 2 unrelated families. Neither was present in the ICR1000 and ExAC browsers. The mutations were confirmed by Sanger sequencing. Subsequently, Mahamdallie et al. (2015) performed Sanger sequencing of the full coding sequence and intron-exon boundaries of the REST gene in 38 individuals with familial Wilms tumor from 27 families.
He also had bilateral radial aplasia and other skeletal abnormalities, but there was no manifestation of any syndrome previously associated with Wilms tumors.
ICR1 and a neighboring imprinted gene cluster are implicated in Beckwith-Wiedemann syndrome (BWS; 130650), of which Wilms tumor is a common feature. ... Molecular Genetics Using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of the 11p15 growth regulatory region, Scott et al. (2008) identified constitutional abnormalities at chromosome 11p15 in 13 (3%) of 437 individuals with sporadic Wilms tumor without features of overgrowth syndromes. Six patients had paternal uniparental disomy of 11p15 and 6 had hypermethylation at the H19 differentially methylated region (DMR) (see ICR1, 616186).
The 'WAGR' syndrome (194072) is characterized by susceptibility to Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation; WAGR is a 'contiguous gene syndrome' in which a constitutional deletion on chromosome 11p13 affects several contiguous genes, resulting in a constellation of defects (Schmickel, 1986; Park et al., 1993). ... Beckwith (1998) provided useful data on the age at diagnosis of the first Wilms tumor in cases of syndrome-associated WT. Among 121 cases of Beckwith-Wiedemann syndrome (BWS; 130650), 96% were diagnosed by age 8 years; the oldest BWS patient had WT detected at 10 years, 2 months. ... Among 52 patients with Denys-Drash syndrome (DDS; 194080), WT was detected in 96% by age 5 years; the oldest DDS patient had WT detected at 6 years of age. ... One of the patients had Perlman syndrome (renal hamartomas, nephroblastomatosis, and fetal gigantism; 267000). ... Using denaturing gradient gel electrophoresis, they found a heterozygous point mutation in exon 8 in 1 of these patients: arg366-to-his, which had previously been described in a case of Denys-Drash syndrome (607102.0004). Reevaluation of the clinical data confirmed the diagnosis of Drash syndrome.
For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070). Mapping With loss of heterozygosity studies, Maw et al. (1992) concluded that a third Wilms tumor locus (WT3) is on 16q. In addition to loss on chromosome 11p (11 of 25 informative Wilms tumors), there was significant loss on 16q (9 of 45 informative tumors), while the total frequency of allele loss excluding these loci was low (9 of 426 total informative loci). They screened loci on 33 autosomal arms. The parental origin of the lost chromosome 16q allele was paternal in 4 and maternal in 4 sporadic tumors tested. Thus, unlike chromosome 11p, alleles of either parental origin are lost on 16q.
Etiology Nephroblastoma is sporadic in 99% of cases and, among these cases, 10% are associated with congenital anomalies (aniridia, hemihypertrophy, genitourinary defects) or form part of specific syndromes (Beckwith-Wiedemann, Denys-Drash, WAGR or Perlman syndromes; see these terms).
For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070). Clinical Features Rahman et al. (1996) described a large Canadian family with 7 confirmed cases of Wilms tumor in 3 generations. No congenital abnormalities or other cancers had been observed in the family. The average age of presentation was 5 years (age range of 2 to 12 years), which is older than the average age of diagnosis of sporadic WT (3 to 4 years). Typical triphasic histology with stromal, blastemal, and epithelial elements was found in 5 tumors, while the sixth tumor was predominantly myogenic.
Wilms tumor can occur as part of rare syndromes, including: WAGR syndrome. This syndrome includes Wilms tumor, aniridia, genital and urinary system problems, and intellectual disabilities. Denys-Drash syndrome. This syndrome includes Wilms tumor, kidney disease and male pseudohermaphroditism (soo-do-her-MAF-roe-dit-iz-um). In male pseudohermaphroditism, a boy's genitals aren't clearly male. Beckwith-Wiedemann syndrome. Children with this syndrome tend to be much larger than what is typical, known as macrosomia. This syndrome might cause organs in the stomach area to jut into the base of the umbilical cord, a large tongue, large internal organs and ears that are formed unusually.
Genetic conditions that share a genetic cause with Wilms tumor can also have this cancer as a feature. These conditions include WAGR syndrome, Denys-Drash syndrome, and Frasier syndrome, which are caused by mutations in the WT1 gene. Wilms tumor has also been seen in individuals with Beckwith-Wiedemann syndrome, which can be caused by changes in the genomic imprinting of the IGF2 and H19 genes. ... Mutations that are present in cells throughout the body (called germline mutations) are responsible for the remaining 10 percent of Wilms tumor cases and cause either Wilms tumor without any other signs or symptoms or syndromes in which Wilms tumor is one of multiple features. These cases follow autosomal dominant inheritance , which means one copy of the altered gene in each cell can cause a Wilms tumor-related syndrome or increase a person's chance of developing the cancer alone.
Shared psychosis, a psychiatric syndrome in which symptoms of a delusional belief are transmitted from one individual to another For other uses, see Folie à deux (disambiguation) . ... See Wikipedia's guide to writing better articles for suggestions. ( July 2020 ) ( Learn how and when to remove this template message ) Induced delusional disorder Other names Lasègue-Falret syndrome, induced delusional disorder, shared psychotic disorder Pronunciation UK : / ˌ f ɒ l i æ ˈ d ɜː , - i ɑː -/ , US : / f oʊ ˌ l iː ə ˈ d ʌ / , [1] French: [fɔli a dø] Specialty Psychiatry Folie à deux ('madness for two'), also known as shared psychosis [2] or shared delusional disorder ( SDD ), is a psychiatric syndrome in which symptoms of a delusional belief, and sometimes hallucinations , [3] [4] are transmitted from one individual to another. [5] The same syndrome shared by more than two people may be called folie à... trois ('three') or quatre ('four'); and further, folie en famille ('family madness') or even folie à plusieurs ('madness of several'). The disorder was first conceptualized in 19th-century French psychiatry by Charles Lasègue and Jean-Pierre Falret and is also known as Lasègue-Falret syndrome . [3] [6] Recent psychiatric classifications refer to the syndrome as shared psychotic disorder ( DSM-4 – 297.3) and induced delusional disorder ( ICD-10 – F24), although the research literature largely uses the original name. ... "Folie à deux (et Folie à plusieurs)." In Uncommon psychiatric syndromes (4th ed.). London: Arnold. ISBN 0340763884 Halgin, R., and S. ... External links [ edit ] Folie à deux: Two case reports " Shared Psychotic Manic Syndrome in Monozygotic Twins ". " Genetic of Psychogenic?
The discovery of the Urbach–Wiethe disease causing mutation to the ECM1 gene has now provided a definitive way to differentiate Urbach–Wiethe disease from these other conditions. [9] Society [ edit ] Urbach–Wiethe disease is used as the main plot element in a 2013 Dutch novel, De angstjager (The Fear Hunter) by author Joris van Os . [21] Released in 2015, A Fearless Life by author Joshua McCloskey is about a young woman's life living with Urbach-Wiethe. [22] Urbach–Wiethe disease and the case study of SM-046 are the source of the main plot elements in two stories in Movemind by author Robert New. [23] [24] See also [ edit ] Klüver–Bucy syndrome S.M. (patient) List of cutaneous conditions List of radiographic findings associated with cutaneous conditions References [ edit ] ^ https://www.washingtonpost.com/news/speaking-of-science/wp/2015/01/20/meet-the-woman-who-cant-feel-fear/? ... CS1 maint: multiple names: authors list ( link ) ^ Mallory SB, Krafchick BR, Holme SA, Lenane P, Krafchik BR (2005). "What syndrome is this? Urbach-Weithe syndrome (lipoid proteinosis)". ... External links [ edit ] Classification D ICD - 10 : E78.8 ICD - 9-CM : 272.8 OMIM : 247100 MeSH : D008065 DiseasesDB : 30808 SNOMED CT : 38692000 External resources eMedicine : derm/241 v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
Summary Clinical characteristics. Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, and spontaneous CNS hemorrhage. Males and females are affected equally. Generally, the disease course is chronic and fluctuating. Affected individuals have a normal life span unless they experience laryngeal obstruction. Diagnosis/testing. The diagnosis of lipoid proteinosis is established in a proband with characteristic clinical findings and either identification of biallelic ECM1 pathogenic variants on molecular genetic testing or characteristic histologic and/or immuno-labeling findings on skin biopsy.
Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract , the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas. The first symptom of this condition is usually a hoarse voice, which is due to deposits in the vocal cords. In infancy the hoarseness is expressed as a weak cry. The voice abnormalities persist throughout life and can ultimately cause difficulty speaking or complete loss of speech. Involvement of the throat, tonsils, and lips can result in breathing problems and upper respiratory tract infections.
A number sign (#) is used with this entry because of evidence that lipoid proteinosis is caused by homozygous or compound heterozygous mutation in the ECM1 gene (602201) on chromosome 1q21. Description Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).
Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. Epidemiology Incidence and prevalence are not known. More than 300 cases (ages 6 to 67 years) have been reported worldwide. Most patients are of European ancestry (Dutch or German). A founder effect is reported among large kindreds in South Africa. Many cases are also reported from the Middle East and India. The disease is more commonly seen in consanguineous unions. Clinical description A wide range of clinical signs is noted and disease severity is variable, while the course is usually slowly progressive.
Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia , speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities.
Fake syndrome supposed to be due to breathing air in an airplane Aerotoxic syndrome relates to ill-health effects that are caused by breathing contaminated airliner cabin air . ... The authors concluded that health complaints could not be linked to TCP exposure in cabin air.....A syndrome is a symptom complex, consistent and common to a given condition. ... All concluded there is insufficient consistency to establish a medical syndrome, and the ‘aerotoxic syndrome’ is not recognised in aviation medicine." [14] The ' nocebo effect ' was among the conclusions published in a 2013 COT (Committee on Toxicity) position paper: "The acute illness which has occurred in relation to perceived episodes of contamination might reflect a toxic effect of one or more chemicals, but it could also have occurred through nocebo effects. ... "Preliminary report on aerotoxic syndrome (AS) and the need for diagnostic neurophysiological tests". ... June 4, 2000. p. 2A. ^ a b Michael Bagshaw (2008-11-29). "The "Aerotoxic Syndrome " " (PDF) . European Society of Aerospace Medicine.
Some potential risk factors include smoking, alcohol consumption, specific genetic syndromes, congenital abnormalities, and more. Among these risk factors, specifically, the Klinefelter syndrome (KS) and cryptorchidism increase the possibility for males having testicular tumors and the Turner syndrome (TS) affects the risk of having ovarian cysts in females. [4] Swyer syndrome and other syndromes may increase the risk of having EGCTs in the gonads. [7] [8] The diagnosis is made by a combination of picture-taking testaments, physical examinations, and the investigation of samples from blood, urine, and tissue by using microscope. [3] [7] By collecting the data from the testaments, clinicians use the classifications of EGCTs to assist diagnosing the type of tumor. ... The risk factors had been recognized are genetic syndromes and congenital abnormalities. Klinefelter syndrome - mediastinal GCTs [11] Swyer syndrome - gonadoblastomas and seminomas (testicle) [11] Turner syndrome - gonadoblastomas and dysgerminomas (ovary) [11] These syndromes had been discovered of having higher risk in developing EGCTs. [7] [10] Besides the effects of syndromes, cryptorchidism , the absence of one or both testes, may increase the risk for male diagnose testicular seminoma tumor. [12] Environmental risk factors may increase the risk of diagnosing EGCTs, which includes smoking, alcohol consumption, chemical environment. ... Testicular GCT [ edit ] A painless bump in the testes represents the testicular GCT in male. The Klinefelter syndrome Swyer syndrome may increase the risk of having testicular GCT. [4] [11] Two common age ranges for testicular GCT is before 4 years old or after puberty. [4] A stage I testicular GCT is considered a low risk tumor where all ages of male may diagnose.
Overview Tachycardia (tak-ih-KAHR-dee-uh) is the medical term for a heart rate over 100 beats a minute. Many types of irregular heart rhythms (arrhythmias) can cause tachycardia. A fast heart rate isn't always a concern. For instance, the heart rate typically rises during exercise or as a response to stress. Tachycardia may not cause any symptoms or complications. But if left untreated, some forms of tachycardia can lead to serious health problems, including heart failure, stroke or sudden cardiac death. Treatment for tachycardia may include specific maneuvers, medication, cardioversion or surgery to control a rapid heartbeat.
Respiratory diseases range from mild and self-limiting, such as the common cold , influenza , and pharyngitis to life-threatening diseases such as bacterial pneumonia , pulmonary embolism , tuberculosis , acute asthma , lung cancer , [2] and severe acute respiratory syndromes , such as COVID-19 . [3] Respiratory diseases can be classified in many different ways, including by the organ or tissue involved, by the type and pattern of associated signs and symptoms, or by the cause of the disease. ... Restrictive lung diseases are a category of respiratory disease characterized by a loss of lung compliance , [5] causing incomplete lung expansion and increased lung stiffness, such as in infants with respiratory distress syndrome. Restrictive lung diseases can be divided into two categories: those caused by intrinsic factors and those caused by extrinsic factors. ... Some of the most common are asthma , chronic obstructive pulmonary disease , and acute respiratory distress syndrome . CRDs are not curable; however, various forms of treatment that help dilate major air passages and improve shortness of breath can help control symptoms and increase the quality of life. [7] Respiratory tract infections [ edit ] Infections can affect any part of the respiratory system. ... Other pathogens such as viruses and fungi can cause pneumonia for example severe acute respiratory syndrome , COVID-19 and pneumocystis pneumonia . ... Pulmonary hemorrhage can be due to auto-immune disorders such as granulomatosis with polyangiitis and Goodpasture's syndrome . Neonatal diseases [ edit ] Pulmonary diseases may also impact newborns, such as pulmonary hyperplasia , pulmonary interstitial emphysema (usually preterm births ), and infant respiratory distress syndrome .
Description Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA. For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (252900). Clinical Features Kresse et al. (1976) reported 2 related patients of Greek origin with the phenotype of Sanfilippo syndrome who had normal values of heparan sulfamidase (605270) and alpha-N-acetylglucosaminidase (NAGLU; 609701). ... Diagnosis Klein et al. (1981) described an assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo syndrome type C. Affected individuals had no residual activity of acetyl-CoA:alpha-glucosaminide N-acetyltransferase. ... Hrebicek et al. (2006) narrowed the candidate linkage region for Sanfilippo syndrome type C to a 2.6-cM interval between D8S1051 and D8S1831 on chromosome 8p and identified causative mutations in the HGSNAT gene (e.g., 610453.0003-610453.0005).
Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment.
Retrieved June 17, 2013 from EBSCOhost. [2] [ permanent dead link ] ^ James, R. (2006). Culture-bound syndromes: Taijin Kyofusho. In Y. Jackson (Ed.), Encyclopedia of multicultural psychology. ... Thousand Oaks, CA: SAGE Publications, Inc. doi : 10.4135/9781412952668.n76 ^ "SAGE Reference - Culture-Bound Syndromes: Taijin Kyofusho" . Knowledge.sagepub.com. 2007-09-15 . ... "Taijin Kyofusho: A Culture-Bound Syndrome" . BrainPhysics.com . The Deep Health Network. ... PMID 520018 . ^ Kawai, T., Minabe, Y., ori, N., Suzuki, K., Takei, N., (2003)., Is Taijin Kyofusho a Culture-Bound Syndrome?. http://ajp.psychiatryonline.org/article.aspx? ... "Is Taijin Kyofusho a Culture-Bound Syndrome?". American Journal of Psychiatry . 160 (7): 1358. doi : 10.1176/appi.ajp.160.7.1358 .