Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. ... Serious manifestations include confusion, shock, renal and myocardial dysfunction, acute respiratory distress syndrome (ARDS; see this term) and coma.
Description Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004). See also pseudopili annulati (613241), a distinct entity. Clinical Features Cady and Trotter (1920) reported 3 unrelated families with ringed hair. The condition was restricted to hairs on the scalp. Based on refractive patterns under transmitted and reflective light, Cady and Trotter (1920) concluded that the light areas were caused by the presence of gas in the interstices of the medulla and cortex of the hair shaft, and not by lack of pigmentation. Ashley and Jacques (1950) reported a 4-generation pedigree with ringed hair inherited in an autosomal dominant pattern.
Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as "striped" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair.
Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.
Anomalous left coronary artery from the pulmonary artery Other names Bland-White-Garland syndrome Possible communication between left coronary artery and pulmonary artery in a 45-year-old woman with Bland-White-Garland syndrome. Specialty Medical genetics Anomalous left coronary artery from the pulmonary artery ( ALCAPA or Bland-White-Garland syndrome or White-Garland syndrome ) is a rare congenital anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus . [1] After birth, the pressure in other coronary arteries (namely the RCA ) will have a pressure that exceeds the LCA and collateral circulation will increase. This, ultimately, can lead to blood flowing from the RCA into the LCA (retrograde) and into the pulmonary artery, thus forming a left-to-right shunt . [2] The syndrome is named for Edward Franklin Bland , Paul Dudley White , and Joseph Garland .
Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. ... The autosomal recessive condition is referred to as Matthew-Wood syndrome and was probably named after one of the affected children.
A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-12 (MCOPS12) is caused by compound heterozygous or heterozygous mutation in the RARB gene (180220) on chromosome 3p24. ... An earlier pregnancy had resulted in death due to presumed tangled cord, but was strongly suspected to represent the same syndrome. Chitayat et al. (2007) also reported an unrelated living child, a 9.5-year-old boy born to nonconsanguineous French parents, who had bilateral severe microphthalmia and underwent repair of a left diaphragmatic hernia at 2 months of age; lung CT scan did not show pulmonary hypoplasia, and pulmonary function tests at 19 months of age showed normal lung capacity.
Overview Corticobasal degeneration, also called corticobasal syndrome, is a rare condition in which areas of your brain shrink and your nerve cells degenerate and die over time. ... Causes Corticobasal degeneration (corticobasal syndrome) can be caused by several underlying pathologies. ... Complications The symptoms of corticobasal degeneration (corticobasal syndrome) progress to serious complications, such as pneumonia, blood clots in the lungs, or sepsis, a life-threatening response to an infection. ... Diagnosis A diagnosis of corticobasal degeneration (corticobasal syndrome) is made based on your signs and symptoms. ... Treatment There are no treatments that help slow the progression of corticobasal degeneration (corticobasal syndrome). Your doctor may recommend medications to try to manage your symptoms.
A number sign (#) is used with this entry because of evidence that Tn polyagglutination syndrome (TNPS) is caused by somatic mutation in the C1GALT1C1 gene (300611) on chromosome Xq24. ... Vainchenker et al. (1985) demonstrated that the Tn antigen is present on hematopoietic progenitors of all cell lines (erythroid, granulocytic, and megakaryocytic) of patients with Tn syndrome, indicating that the antigen is present at early stages of differentiation. Molecular Genetics Ju and Cummings (2005) showed that Tn syndrome is associated with somatic mutations in COSMC (C1GALT1C1; 300611), a gene on the X chromosome that encodes a molecular chaperone that is required for the proper folding and hence full activity of T synthase (C1GALT1). Ju and Cummings (2005) sequenced the T synthase and COSMC genes from whole blood cells from 2 individuals with Tn syndrome and found no mutations in T synthase. ... Crew et al. (2008) identified 2 different somatic mutations in the C1GALT1C1 gene (300611.0004-300611.0005) in 2 unrelated patients with Tn syndrome. Expression of the mutations in Jurkat T lymphocytes resulted in the cells expressing the Tn antigen, indicating loss of C1GALT1C1 function.
Retired husband syndrome ( 主人在宅ストレス症候群 , Shujin Zaitaku Sutoresu Shoukougun , literally "One's Husband Being at Home Stress Syndrome") [1] ( RHS ) is a psychosomatic stress -related illness which has been estimated to occur in 60% of Japan 's older female population. [2] It is a condition where a woman begins to exhibit signs of physical illness and depression as their husband reaches, or approaches, retirement. [2] Contents 1 Common symptoms 2 Theorized reason for RHS 3 Research 4 References Common symptoms [ edit ] The following are some of the common symptoms of RHS: [2] Depression Skin rash Asthma Ulcers High blood pressure Theorized reason for RHS [ edit ] This syndrome was identified and coined by Nobuo Kurokawa [2] and first appeared in a presentation of his to the Japanese Society of Psychosomatic Medicine in 1991. [3] Kurokawa has theorized that RHS is a result of the fact that many of Japan's citizens who are reaching retirement age, 60, [2] are members of the Baby Boomer generation of Japan. ... They may also ask their husbands to stay on at work past retirement age. [2] Many wives do not tell their husbands what is happening [2] and this can worsen the stress as their husbands may not understand or even realize their wives are RHS sufferers. [2] [3] Research [ edit ] Marco Bertoni and Giorgio Brunello of the University of Padova published a discussion paper in July 2014 based on empirical research in Japan. [5] References [ edit ] ^ "Retired husband syndrome あるいは「主人在宅ストレス症候群」 [医学・科学関連]" (in Japanese). ... Retrieved 2006-11-30 . ^ a b c d e f g h i j k l m n Kenyon, Paul (November 13, 2006). "Retired husband syndrome" . BBC News , This World . BBC . ... Retrieved 27 May 2011 . ^ Pappa Ante Portas: The Retired Husband Syndrome in Japan
A number sign (#) is used with this entry because of evidence that Sifrim-Hitz-Weiss syndrome (SIHIWES) is caused by heterozygous mutation in the CHD4 gene (603277) on chromosome 12p13. Description Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. ... Clinical Features Sifrim et al. (2016) reported 5 unrelated patients, ranging in age from 1 to 16 years, with a syndrome associated with congenital heart defects. ... The patients were ascertained from a cohort of 518 trios in which a child had syndromic congenital heart defects who underwent exome sequencing. ... Both Sifrim et al. (2016) and Weiss et al. (2016) noted phenotypic overlap with CHARGE syndrome (214800), which is caused by mutation in the CHD7 gene (608892).
See OMIM Phenotypic Series: Autosomal dominant ID; Autosomal recessive ID; Nonsyndromic X-linked ID; and Syndromic X-linked ID. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CHD4 neurodevelopmental disorder ( CHD4 -NDD), the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to diagnosis) are recommended.
A number sign (#) is used with this entry because of evidence that autosomal recessive cornea plana-2 (CNA2) is caused by homozygous or compound heterozygous mutation in the KERA gene (603288) on chromosome 12q21. Description Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400). Clinical Features Eriksson et al. (1973) pointed out that the autosomal recessive form of CNA has more severe manifestations than the dominant form (CNA1; 121400) in terms of reduced visual activity, extreme hyperopia (usually +10 diopters (D) or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). Tahvanainen et al. (1996) noted that a round and opaque thickening, approximately 5 mm wide and located centrally, occurs in most cases of the recessive form but never in the dominant form.
This is referred to as sinoatrial block typically manifesting with various degrees and patterns of sinus bradycardia . Sudden arrhythmic death syndrome [ edit ] Sudden arrhythmic death syndrome (SADS), is a term used as part of sudden unexpected death syndrome to describe sudden death because of cardiac arrest occasioned by an arrhythmia in the presence or absence of any structural heart disease on autopsy. ... There are many inherited conditions and heart diseases that can affect young people which can subsequently cause sudden death without advance symptoms. [12] Causes of SADS in young people include viral myocarditis , long QT syndrome , Brugada syndrome , Catecholaminergic polymorphic ventricular tachycardia , hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia . [13] [14] Fetal arrhythmia [ edit ] Arrhythmias can also be found in the fetus . [15] The normal heart rate of the fetus is between 110 and 160 beats per minute. ... Problems with the electrical pathway of the heart can cause very fast or even deadly arrhythmias. Wolff–Parkinson–White syndrome is due to an extra pathway in the heart that is made up of electrical muscle tissue. ... When the node is stimulated, the patient will go into ventricular tachycardia, which does not allow the heart to fill with blood before beating again. Long QT syndrome is another complex problem in the heart and has been labeled as an independent factor in mortality. ... These types of re-entry circuits are different from WPW syndromes, which utilize abnormal conduction pathways.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Premature heart beat" – news · newspapers · books · scholar · JSTOR ( March 2015 ) ( Learn how and when to remove this template message ) Premature heart beat A premature ventricular contraction marked by the arrow. Specialty Cardiology A premature heart beat is a heart rhythm disorder corresponding to a premature contraction of one of the chambers of the heart. Premature heart beats come in two different types, premature atrial contractions and premature ventricular contractions . Often they cause no symptoms but may present with fluttering in the chest or a skipped beat.