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According to the Histiocytosis Association of America , 1 in 200,000 children in the United States are born with histiocytosis each year. [2] HAA also states that most of the people diagnosed with histiocytosis are children under the age of 10, although the disease can afflict adults. The disease usually occurs from birth to age 15. [3] Histiocytosis (and malignant histiocytosis ) are both important in veterinary as well as human pathology. ... Information concerning histiocytosis and clinicians located in European countries may be found in many languages at the web portal of Euro Histio Net (EHN). This is a project funded by the European Union, coordinated by Jean Donadieu, APHP , Paris, France. ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Goldberg, J; Nezelof, C (1986), "Lymphohistiocytosis: a multi-factorial syndrome of macrophagic activation clinico-pathological study of 38 cases", Hematol Oncol , 4 (4): 275–289, PMID 3557322 . ^ Egan, Caoimhe; Jaffe, Elaine S. (2018). ... Springer Science & Business Media. p. 383. ISBN 978-0-387-73743-0 . External links [ edit ] Classification D ICD - 10 : C96.1 , D76.0 ICD - 9-CM : 202.3 , 277.89 MeSH : D015614 SNOMED CT : 60657004 External resources MedlinePlus : 000068 eMedicine : ped/1997 v t e Histiocytosis WHO-I/ Langerhans cell histiocytosis / X-type histiocytosis Letterer–Siwe disease Hand–Schüller–Christian disease Eosinophilic granuloma Congenital self-healing reticulohistiocytosis WHO-II/ non-Langerhans cell histiocytosis / Non-X histiocytosis Juvenile xanthogranuloma Hemophagocytic lymphohistiocytosis Erdheim-Chester disease Niemann–Pick disease Sea-blue histiocyte Benign cephalic histiocytosis Generalized eruptive histiocytoma Xanthoma disseminatum Progressive nodular histiocytosis Papular xanthoma Hereditary progressive mucinous histiocytosis Reticulohistiocytosis ( Multicentric reticulohistiocytosis , Reticulohistiocytoma ) Indeterminate cell histiocytosis WHO-III/ malignant histiocytosis Histiocytic sarcoma Langerhans cell sarcoma Interdigitating dendritic cell sarcoma Follicular dendritic cell sarcoma Ungrouped Rosai–Dorfman disease
Glycogen storage disease type 0 Glycogen storage disease type 0 has defect in glycogen synthase Specialty Medical genetics Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). ... Contents 1 Signs and symptoms 2 Causes 3 Pathophysiology 4 Diagnostic 4.1 Laboratory Studies 4.2 Imaging Studies 4.3 Other Tests 4.4 Procedures 4.5 Histologic Findings 4.6 Differential Diagnoses 4.7 Types 5 Treatment 6 Epidemiology 6.1 Mortality/Morbidity 6.2 Sex 6.3 Age 7 References 8 External links Signs and symptoms [ edit ] The most common clinical history in patients with glycogen-storage disease type 0 (GSD-0) is that of an infant or child with symptomatic hypoglycemia or seizures that occur before breakfast or after an inadvertent fast. ... Serum electrolytes calculate the anion gap to determine presence of metabolic acidosis ; typically, patients with glycogen-storage disease type 0 (GSD-0) have an anion gap in the reference range and no acidosis. ... In patients with glycogen-storage disease type 0, hyperlipidemia is absent or mild and proportional to the degree of fasting. ... In patients with glycogen-storage disease type 0, urine ketones findings are positive, and urine-reducing substance findings are negative.
Affluenza: How to Be Successful and Stay Sane . Vermilion . ISBN 978-0-09-190011-3 . ^ James, Oliver (2008). The Selfish Capitalist . Vermilion . ISBN 978-0-09-192381-5 . ^ James, Oliver (2007). ... London: Vermilion. p. 344 . ISBN 978-0-09-190010-6 . 1. The mean prevalence of emotional distress for the six English-speaking nations combined was 21.6%. ... O'Neill, ISBN 978-0-9678554-0-0 Voluntary Simplicity , Duane Elgin, ISBN 0-688-12119-5 Voluntary Simplicity , Daniel Doherty & Amitai Etzioni, ISBN 0-7425-2066-8 How Much Is Too Much? Raising Likeable, Responsible, Respectful Children-From Toddler to Teens-In an Age of Overindulgence , Clarke, Jean Illsley, Bredehoft, David & Dawson, Connie, ISBN 978-0-7382-1681-2 External links [ edit ] Look up affluenza in Wiktionary, the free dictionary.
It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known. ... Additional infrequently observed features of AGS are summarized in Table 2. Table 2. Infrequent Features Seen in a Cohort of 123 Individuals with Molecularly Confirmed AGS View in own window Feature Number of Affected Individuals by Gene RNASEH2A RNASEH2B RNASEH2C TREX1 Scoliosis 0 9 00 Cardiomegaly 1 0 1 4 Abnormal antibody profile 0 3 1 2 Preserved language 0 6 00 Demyelinating peripheral neuropathy 0 2 1 1 Congenital glaucoma 00 1 2 Micropenis 00 1 1 Hypothyroidism 0 1 0 1 Insulin-dependent diabetes mellitus 0 1 0 1 Transitory deficiency of antidiuretic hormone 000 1 Rice et al [2007b]. ... CSF was not analyzed. These cases most likely represent AGS [Aicardi & Goutières 2000]. Additional individuals with AGS who have signs and symptoms similar to systemic lupus erythematosus have also been described. ... Given the phenotype of early-onset Aicardi-Goutières syndrome (AGS) cases (see Clinical Characteristics) [Reardon et al 1994], it is likely that most cases of MICS are in fact AGS (see Nomenclature).
Five patients presented with classic clinical features of AGS, including neonatal or infantile onset of growth retardation, irritability, poor feeding, axial hypotonia, and delayed psychomotor development. ... Two patients presented around 6 months of age with developmental delay, and the third presented at 4 days of age with omphalitis and thrombocytopenia. ... Adang et al. (2018) described 3 patients with AGS7 who had typical features of syndrome but also presented with pulmonary hypertension, 1 at age 16 years, 1 at 7 years, and 1 at 1 month of age. ... At age 33 years, he showed lower limb spasticity without upper limb involvement. ... Crow et al. (2014) emphasized the phenotypic variability associated with AGS, noting that neurologic dysfunction is not always marked in this disorder.
Crow et al. (2003) proposed that AGS and Cree encephalitis are allelic disorders. ... Cerebrospinal fluid examination at age 3 years demonstrated 4 white cells/cubic mm, and a raised titer of IFN-alpha (147660). ... Analysis of 4 other AGS-related genes and the entire mitochondrial DNA did not reveal any other mutations. ... The data from the study of Rice et al. (2007) indicated that at least 1 further AGS-causing gene remained to be identified. Pathogenesis At the level of its clinical presentation, AGS is a notable mendelian mimic of the sequelae of congenital viral infection.
Crow et al. (2014) reported a 5-year-old boy, born of unrelated Hispanic parents, who presented at age 2 years with toe walking and frequent falls associated with slowly progressive spastic paraplegia following normal early psychomotor development. ... Crow et al. (2014) emphasized the phenotypic variability associated with AGS, noting that neurologic dysfunction is not always marked in this disorder. ... They sequenced other individuals without known mutations from their AGS cohort and identified a total of 9 distinct mutations, including 1 recurrent missense mutation, pro193 to ala (P193A; 146920.0007). ... The skin lesions typical of DSH had not been reported in AGS (they are distinct from AGS-related chilblains) and no individual with AGS6 had obvious features of DSH. ... Rice et al. (2012) remarked that although their findings did not necessarily implicate dysregulation of type 1 interferon in the DSH phenotype, they suggested that missense and null heterozygous mutations in ADAR1 are consistent with both DSH and with carrier or affected status for AGS. Thus, Rice et al. (2012) suggested that the lack of DSH skin features in their AGS cases and their heterozygous parents most likely relates to nonpenetrance and/or variable expressivity due to ancestry or other genetic or nongenetic factors.
Clinical Variability Crow et al. (2014) reported 2 Egyptian sibs and an unrelated patient of North African descent who presented with nonsyndromic spastic paraplegia around age 2 years following normal psychomotor development. ... All 3 children remained ambulatory between the ages of 5 and 11 years. All had normal head size and normal cognition. Brain imaging of the 2 sibs was normal; the unrelated child had diffuse nonspecific high signal on T2-weighted imaging with some dilatation of the lateral ventricles at age 3. One of the sibs had unilateral optic atrophy, but this may have been unrelated to the primary disorder. ... Crow et al. (2014) emphasized the phenotypic variability associated with AGS, noting that neurologic dysfunction is not always marked in this disorder. ... In 2 Egyptian sibs and an unrelated patient of North African descent who presented with nonsyndromic spastic paraplegia around age 2 years following normal psychomotor development, Crow et al. (2014) identified a homozygous A177T mutation in the RNASEH2B gene (610326.0001).
The 13-year-old older sister had normal development until age 6 months when she showed mildly delayed psychomotor development. ... Her skin became gradually tight, particularly on the distal extremities, and biopsy showed an inflammatory reaction. Since age 3 years, she experienced stiffness and pain in the joints, resulting in secondary contractures, reduced hand function, and intermittent use of a wheelchair. ... In contrast, her brother developed a stiff gait with scissoring and toe walking at age 3 years. He had lower limb spasticity and hyperreflexia, but no learning disabilities and no microcephaly. ... Dale et al. (2010) noted that the diagnosis of AGS can be made even when some of the original diagnostic features, such as progressive neurologic dysfunction and intracranial calcifications, are absent. ... Leshinsky-Silver et al. (2011) reported a boy, born of unrelated Ashkenazi Jewish parents, who presented at age 3 weeks with failure to thrive, poor growth, and lack of development.
However, less severe forms have been described with onset after 1 year of age and preservation of language skills and cognitive function, and normal head circumference.
The proband appeared vacant, with no social smile and poor visual fixation in the first months of life. Around 2 months of age, she showed poor head control, truncal hypotonia, and intermittent stiffening with jerky movements. Examination at age 1 year showed nystagmus, roving eye movements, hypotonia, dystonia, and brisk lower limb reflexes.
Anemia, leukopenia, and thrombocytopenia were present, but resolved after 2 months of age; elevated liver enzymes persisted. At 7 years of age, the patient had short stature and was underweight and microcephalic. ... The patients were discordant across this region, suggesting linkage to a novel AGS locus. Inheritance The transmission pattern of AGS in the family reported by Sanchis et al. (2005) was consistent with autosomal recessive inheritance. ... Rice et al. (2007) found RNASEH2A mutations in 3 of 127 pedigrees with a clinical diagnosis of AGS. Four children in these 3 families had biallelic mutations. ... The patient with the homozygous mutation, who was affected at birth and required immediate support, died at 7 years of age. In 1 family Rice et al. (2007) identified a single mutation in RNASEH2A that had been inherited.
Bowman (1954) described 2 affected male sibs; one died at age 33 months and the other at age 31 months. ... Three sibs in 1 family had onset at 13 to 24 months of age of severe spastic tetraplegia, contractures of all 4 limbs, and mental retardation. ... Babbitt et al. (1969) described this disorder, which they called 'familial cerebrovascular ferrocalcinosis,' in 2 sisters and a brother. Symptoms appeared before age 10 years and consisted of mental deterioration, seizures, extrapyramidal signs, abnormal EEG, and retinitis pigmentosa. ... The patients died at 30 days and 50 days of age. At least 1 had corneal clouding. ... INHERITANCE - Autosomal dominant - Autosomal recessive GROWTH Height - Short stature Weight - Low weight Other - Poorly developed body habitus HEAD & NECK Head - Microcephaly - Dolichocephaly SKELETAL - Limb contractures, severe NEUROLOGIC Central Nervous System - Developmental delay, severe - Mental retardation, severe - Spasticity, severe - Tetraplegia - Extrapyramidal signs - Seizures - Dysarthria - CT scan shows dense calcifications in the basal ganglia - Dense calcifications in the cerebellar dentate nucleus - Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex - Neuropathologic examination shows calcification of the small brain vessels IMMUNOLOGY - No evidence of intrauterine or perinatal infection LABORATORY ABNORMALITIES - Normal serum calcium - Normal serum phosphorus MISCELLANEOUS - Onset in infancy - Many patients die by 1-3 years of age - See also an adult-onset form ( 213600 ) ▲ Close
A number sign (#) is used with this entry because of evidence that liver glycogen storage disease-0 (GSD0A) is caused by homozygous or compound heterozygous mutation in the GYS2 gene (138571), which encodes glycogen synthase-2, on chromosome 12p12. ... Aynsley-Green et al. (1977, 1977) did metabolic and enzyme studies on a 9-year-old girl who first presented with hypoglycemic convulsions at the age of 7 years. They found that the 13-year-old brother of the proband had the same 'metabolic profile' but was asymptomatic. ... Laberge et al. (2003) described hepatic glycogen synthase deficiency in a French Canadian girl referred at 7 years of age for a family history of hyperlipidemia. ... Unlike most other reported patients, the patient showed an increase in fasting plasma glucose levels after glucagon administration during episodes of hypoglycemia. At 13 years of age, growth and intellect were normal; however, she still had hypoglycemia after 18 hours of fasting. Mapping Orho et al. (1998) established linkage of glycogen storage disease 0 to intragenic and flanking polymorphic markers of the GYS2 gene on chromosome 12p12.2.
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Epidemiology It is an extremely rare disease; about 20 cases have been reported in the literature so far. Clinical description It commonly appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia.
Glycogen storage disease type 0, liver (liver GSD 0), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose). Unlike other types of GSD, liver GSD 0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver. ... This condition differs from another form of GSD 0 which chiefly affects the muscles and heart ( Glycogen storage disease type 0, muscle ) and is thought to be caused by mutations in the GYS1 gene.
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired. The signs and symptoms of muscle GSD 0 typically begin in early childhood. ... Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. Causes Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0.
Lippincott Williams & Wilkins. p. 1152. ISBN 0-7817-7513-2 . ^ Pryse-Phillips, William (2003). ... Oxford University Press US. p. 587. ISBN 0-19-515938-1 . ^ Bradley, Walter George (2004). ... Lippincott Williams & Wilkins. p. 2695. ISBN 0-7817-5777-0 . ^ Miller, Neil R.; Frank Burton Walsh; Valérie Biousse; William Fletcher Hoyt (2005). ... Lippincott Williams & Wilkins. p. 1289. ISBN 0-7817-4811-9 . ^ a b Loder, Elizabeth; Dawn A. ... McGraw-Hill Professional. p. 127. ISBN 0-07-105467-7 . ^ G. D. Schott (2007).
Matsui et al. (1983) collected detailed information on 45 patients with MMA: 15 with mut(0) type, 5 with mut(-), 14 with cblA, and 11 with cblB. ... Other common features included hepatomegaly, developmental delay, and coma. Mut(0) patients presented earlier in infancy than the 3 other groups. ... Shevell et al. (1993) compared the clinical features in 11 mut(0) patients with those in 9 mut(-) patients. ... Giorgio et al. (1976) reported 2 French-Canadian brothers, aged 62 and 70 years, who had a benign form of MMA due to methylmalonyl-CoA mutase deficiency. ... All the patients exhibited a severe mut(0) methylmalonic acidemia phenotype, and 3 of them were homozygous for the mutation.
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Epidemiology Prevalence of this disorder is not known. Clinical description The disease typically presents very early in life (<1 to 4 weeks), although rare later onset cases have been observed, with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, developmental delay, intellectual deficit, hepatomegaly and coma. Patients may show signs of anemia. They may also have potentially life-threatening ketoacidosis and/or hyperammonemia, renal and neurological complications, metabolic stroke and cardiomyopathy. Etiology The disease is caused by complete deficiency in the activity of the mitochondrial enzyme methylmalonyl-CoA mutase which is a result of mutations in the MUT gene (6p21). Genetic counseling It is transmitted as an autosomal recessive trait.
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms). Epidemiology Prevalence of 1/48,000-1/61,000 has been reported for methylmalonic aciduria of all causes in North America, and 1/26,000 in China, but only a subset of this is vitamin B12-unresponsive methylmalonic acidemia. Clinical description Patients with vitamin B12-unresponsive methylmalonic acidemia without homocystinuria typically present very early in life (<1 to 4 weeks) with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscular hypotonia, hepatomegaly and coma. Later-onset manifestations may include developmental delay and intellectual deficit.
Methylmalonyl-CoA mutase deficiency Other names MCM Deficiency [1] Methylmalonyl-CoA mutase Rendering based on PDB 2XIJ . Identifiers Symbol MMUT Alt. symbols MCM, MUT NCBI gene 4594 HGNC 7526 OMIM 609058 RefSeq NP_000246 UniProt P22033 Other data EC number 5.4.99.2 Locus Chr. 6 p21 Search for Structures Swiss-model Domains InterPro methylmalonyl-CoA mutase Identifiers EC number 5.4.99.2 CAS number 9023-90-9 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme view KEGG KEGG entry MetaCyc metabolic pathway PRIAM profile PDB structures RCSB PDB PDBe PDBsum Gene Ontology AmiGO / QuickGO Search PMC articles PubMed articles NCBI proteins Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme (EC. 5. 4.99.2) that focuses on the catalysis of methylmalonyl CoA to succinyl CoA . The enzyme is bound to adenosylcobalamin , a hormonal derivative of vitamin B12 in order to function. Methylmalonyl-CoA mutase deficiency [2] is caused by genetic defect in the MUT [3] gene responsible for encoding the enzyme. Deficiency in this enzyme accounts for 60% of the cases of methylmalonic acidemia . [4] Contents 1 Symptoms 2 Causes 3 Enzymatic activity 4 Metabolic activity 5 Metabolic pathology 6 Diagnosis 7 Treatment 8 Prognosis 9 See also 10 References 11 External links Symptoms [ edit ] People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism .
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Epidemiology Prevalence of this form of the disorder is not known. More than 450 cases have been reported to date. Clinical description The disease typically presents very early in life (<1 to 4 weeks), although later onset cases have been observed, with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, developmental delay, intellectual deficit, hepatomegaly and coma. Patients may show signs of anemia. They may also have potentially life-threatening ketoacidosis and/or hyperammonemia, renal and neurological complications, metabolic stroke and cardiomyopathy. mut- is generally less severe than vitamin B12-unresponsive methylmalonic acidemia type mut0 (see this term) and may in some cases respond to vitamin B12 therapy. Long term complications include metabolic stroke and development of end stage renal failure.
A number sign (#) is used with this entry because of evidence that muscle glycogen storage disease-0 (GSD0B) is caused by homozygous mutation in the GYS1 gene (138570), which encodes muscle glycogen synthase, on chromosome 19q13. ... The oldest brother developed normally until the age of 4 years, when he had an episode of tonic-clonic seizures. At the age of 10.5 years, while playing outside his school, he suddenly collapsed as the result of cardiac arrest. ... Two years later, an 11-year-old brother was investigated. After the age of 6 years, he had been unable to keep up with the physical activity of his peers and had muscle symptoms similar to those of patient 1. ... Nomenclature Kollberg et al. (2007) suggested that the entity they described be termed muscle glycogen storage disease 0 in analogy with the disease caused by liver glycogen synthase deficiency (240600).
The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability.
Prevalence (%) of anosmia/severe hyposmia (scores 0 to 3) was 0.3 at age 40-49 rising to 14.1 at age 80+. Prevalence of hyposmia (scores 4 to 5) was much higher: 3.7% at age 40-49 and 25.9% at 80+. Both were more prevalent in blacks than whites. ... The prevalence of smell disorder (scores 0-5 out of 8 correct) was 13.5% in persons aged 40 years and over. [9] If the same prevalence occurred in 2016, an estimated 20.5 million persons 40 and over had hyposmia or anosmia . ... Boston: Butterworth-Heinemann. pp. 49–50. ISBN 0-7506-7287-0 . ^ Hoffman, Howard J.; Rawal, Shristi; Li, Chuan-Ming; Duffy, Valerie B. (10 June 2016). ... Infectious Diseases . 20 (9): 1015–1016. doi : 10.1016/S1473-3099(20)30293-0 . PMC 7159875 . PMID 32304629 . ^ Hoffman, Howard J.; Rawal, Shristi; Li, Chuan-Ming; Duffy, Valerie B. (10 June 2016).
Goddard [4] from the Ancient Greek word μωρός ( moros ), which meant "dull" [5] and used to describe a person with a mental age in adulthood of between 7 and 10 on the Binet scale . [6] It was once applied to people with an IQ of 51–70, being superior in one degree to " imbecile " (IQ of 26–50) and superior in two degrees to " idiot " (IQ of 0–25). ... University of Illinois Press, ISBN 978-0-252-06741-9 ^ Black, Edwin (2004). ... Oxford University Press, ISBN 978-0199396184 ^ μωρός , Henry George Liddell, Robert Scott, A Greek–English Lexicon , on Perseus Digital Library ^ Zaretsky, Herbert H.; Richter, Edwin F.; Eisenberg, Myron G. (2005), Medical aspects of disability: a handbook for the rehabilitation professional (third edition, illustrated ed.), Springer Publishing Company, p. 346 , ISBN 978-0-8261-7973-9 . ^ Zenderland, Leila (2001). ... Cambridge University Press, ISBN 978-0-521-00363-6 ^ World Health Organization (1977). ... The Legacy of Malthus: The Social Costs of the New Scientific Racism . Knopf/Random House, ISBN 978-0-394-48045-9
One possible explanation is that the onset of age-related changes in the body can be delayed by calorie restriction . ... Needham Heights, MA, USA: Allyn & Bacon. ISBN 0-205-14164-1 . Das, J.P. (2002). A better look at intelligence. ... Cambridge: Cambridge University Press. pp. 445–476. ISBN 978-0-521-59648-0 . Lay summary (22 July 2013). ... Essentials of Psychological Testing . John Wiley & Sons. ISBN 978-0-471-41978-5 . Lay summary (10 October 2013). ... Cambridge: Cambridge University Press. pp. 20–38. ISBN 978-0-521-73911-5 . Lay summary (9 February 2012).
Three parameters are analyzed: Concentration of C26:0 Ratio of C24:0 to C22:0 Ratio of C26:0 to C22:0 Table 1 summarizes mean results for normal controls, affected males, and carrier females. ... Plasma Very Long Chain Fatty Acid (VLCFA) Values in X-ALD View in own window VLCFA Normal Males with X-ALD Obligate Female Carriers C26:0 µg/mL 1 0.23+0.09 1.30+0.45 0.68+0.29 C24:0/C22:0 2 0.84+0.10 1.71+0.23 1.30+0.19 C26:0/C22:0 2 0.01+0.004 0.07+0.03 0.04+0.02 Steinberg et al [2008] 1. ... Presentation occurs most commonly between age four and eight years, with a peak at age seven years. ... Males present with signs of adrenal insufficiency between age two years and adulthood, most commonly by age 7.5 years. ... It is presently recommended that this should start at age 12 months and be repeated yearly till age three.
A brother of his developed paraparesis at age 13 and progressed to death at age 19. ... However, there was a negative correlation between age and visual perception as well as age and visuomotor skills. ... The mean age of onset is approximately 7 years. ... She died of pneumonia at age 52. Her brother had Addison disease at age 47, and later developed spastic paraparesis and polyneuropathy. ... Treatment with lovastatin resulted in a small decrease of plasma C24:0 and C26:0, likely due to a decrease in LDL cholesterol.
Clinical description X-ALD most severely affects male hemizygotes and less severely affects 60% of female heterozygotes. The age of onset and morbidity are highly variable and progression is unpredictable. ... AMN is characterized by the onset of spastic paraparesia in adult men (mean age of 30) associated with gait disturbances due to sensory ataxia, urinary disorders and sexual dysfunction.
A subtype of X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. Epidemiology X-CALD manifests in 70% of male and 2% of female cases of X-ALD, whose estimated birth incidence (male and female) is 1/20,000. Clinical description X-CALD may occur in healthy boys (2.5-10 years old, 50% of cases), in symptomatic male adrenomyeloneuropathy (AMN, see this term) cases (35%), in adult males as the initial manifestation of X-ALD (~12%) and most rarely in adult women (2%). Adrenocortical insufficiency (AI, 65% of cases) is often latent, lacking melanoderma, presenting as fatigue, nausea or even acute primary adrenal insufficiency (see this term). AI sometimes precedes neurologic symptoms that are limited to mild cognitive dysfunction mimicking attention deficit disorder (ADD) in children.
Ford (1966) referred to this form as the subacute childhood type. It begins at age 8-10 years and is characterized by deafness, blindness, weakness and spasticity of the legs, and dementia. ... However, in the family reported by Scholz (1925), although the affected males in the youngest generation showed this picture, their maternal grandfathers, aged 65 and 60, had the picture of spastic paraplegia.
This form of X-linked ALD usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and symptoms worsen over time.
Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. ... Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. ... However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types. ... The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy type.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disease that affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disease often have progressive loss of the fatty covering (myelin) that surrounds the nerves in the brain and spinal cord. They may also have a shortage of certain hormones that is caused by damage to the outer layer of the adrenal glands (adrenal cortex). This is called adrenocortical insufficiency , or Addison disease. There are three forms of X-ALD: a childhood cerebral form , an adrenomyeloneuropathy (AMN) type, and an adrenal-insufficiency-only-type. The disease primarily affects males. X-ALD is caused by a variation (mutation) in the ABCD1 gene and it is inherited in an X-linked. manner .
John Wiley and Sons. p. 719 . ISBN 978-0-470-57712-7 . ^ Becker, Judith V.; Stinson, Jill D. (2008). ... John Wiley & Sons . pp. 522 . ISBN 978-0-470-25721-0 . ^ Money 1986 , p. 290 . ^ Money 1986 , p. 34 . ^ Money, J. (1984). ... Prometheus Books . p. 147. ISBN 978-0-87975-277-4 . ^ Wilson, Glen Daniel (1987). ... Taylor and Francis. pp. 107–11 . ISBN 978-0-7099-3698-5 . ^ Kaufman, F (1997). ... Washington Square Press. ISBN 978-0-87140-840-2 . Further reading [ edit ] Love, B (1992).
Cutaneous endometriosis is characterized by the appearance of brownish papules at the umbilicus or in lower abdominal scars after gynecologic surgery in middle-aged women. [1] : 628 See also [ edit ] Endometriosis Skin lesion References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . This Dermal and subcutaneous growths article is a stub .
Annular erythema of infancy Specialty Dermatology Annular erythema of infancy is a skin condition reported in children roughly six months in age, characterized by transitory skin lesions that resolved without treatment within eleven months. [1] : 143 See also [ edit ] List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 .
A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
In some cases, the onset of keratoderma is not seen until later childhood. By about 12 years of age the majority of patients have painful plantar keratoderma.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
Connors et al. (2001) described a young girl with clinical features of pachyonychia congenita type 1 in whom the typical skin and nail changes were not noted until the age of 6 years. Direct sequencing of the KRT16 gene revealed a novel lys354 to asn mutation (K354N; 148067.0008) in the central 2B domain of the KRT16 polypeptide.
Suggestive intestinal findings: Neonatal bilious emesis, abdominal distention, and feeding intolerance Intestinal malrotation and long-term intestinal motility problems often resulting in chronic abdominal pain and constipation Neonatal microcolon In individuals of any age: chronic intestinal pseudoobstruction (CIPO) (i.e., unexplained chronic functional intestinal obstruction involving small bowel and/or colon without evidence of mechanical blockage). ... Summary of Bladder and Intestinal Findings in Individuals with Molecularly Confirmed ACTG2 -Related Disorders View in own window Finding # Reported by Study Sipponen et al [2009], Lehtonen et al [2012] Thorson et al [2014] Holla et al [2014] Wangler et al [2014] Klar et al [2015] Bladder Prenatal or postnatal megacystis Not reported 2 Not Reported 8 7 Prune belly syndrome Not reported 0 Not Reported 1 0 Chronic functional impairment 2 2 Not Reported 8 7 Intestinal Microcolon Not reported 1 Not Reported 5 0 Bilious emesis or inability to tolerate feeds as a neonate Not reported 2 Not Reported 7 0 History of abdominal surgery 3 2 1 12 7 Dependent on parenteral nutrition 2 (intermittent) 2 0 7 0 CIPO 7 0 1 8 7 De novo cases (# of families) 0 (0) 2 (2) 0 (0) 10 (10) 0 (0) Dominant familial cases (# of families) 8 (1) 0 (0) 1 (1) 9 (3) 7 (1) Undetermined inheritance cases (# of families) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) Total molecularly confirmed cases (total # of families) 8 (1) 2 (2) 1 (1) 21 (15) 7 (1) Urologic. ... These individuals can survive to an advanced age. Long-term survival. Long-term survival in those with a de novo ACTG2 pathogenic variant usually requires total parenteral nutrition and urinary catheterization or diversion. ... In this series, almost 30% (86/289) of those with severe fetal urinary tract dilatation had an abnormal serum creatinine concentration at age two years. Gastrointestinal. Chronic intestinal pseudoobstruction (CIPO) has been reported at ages ranging from infancy to adulthood. ... Examples: (1) one individual (in a multi-generation Finnish family) with an ACTG2 pathogenic variant reported episodic mild abdominal pain but no surgery and no signs of visceral myopathy at age 19 years [Lehtonen et al 2012]; (2) one individual diagnosed with "spastic colon" and irritable bowel syndrome had not required surgery or intervention in middle age [Wangler et al 2014].
Linear IgA bullous dermatosis (a) Widespread vesiculobullous eruption on the lower limbs with elements in a “string of pearls” arrangement; (b) targetoid vesicular lesions on erythematous skin involving the dorsa of the hands; (c) blisters with a “string of pearls” configuration and crusts in the perioral area; (d) erythematous, vesicular lesions partially eroded on the posterior aspects of both thighs; (e) vesicles involving the vulvar area in a child. [1] Specialty Immunology , dermatology Linear IgA bullous dermatosis is a rare immune-mediated blistering skin disease frequently associated with medication exposure, especially vancomycin , with men and women being equally affected. [2] : 135 It was first described by Tadeusz Chorzelski in 1979 and may be divided into two types: [3] : 587 Adult linear IgA disease is an acquired, autoimmune blistering disease that may present with a clinical pattern of vesicles indistinguishable from dermatitis herpetiformis, or with vesicles and bullae in a bullous pemphigoid-like appearance. [2] This disease can often be difficult to treat even with usually effective medications such as rituximab . [4] Childhood linear IgA disease (also known as "Chronic bullous disease of childhood") is an acquired, self-limited bullous disease that may begin by the time the patient is age 2 to 3 and usually remits by age 13. [2] Micrograph : Subepidermal blister formation and neutrophils See also [ edit ] Skin lesion List of cutaneous conditions List of target antigens in pemphigoid List of immunofluorescence findings for autoimmune bullous conditions References [ edit ] ^ Genovese, Giovanni; Venegoni, Luigia; Fanoni, Daniele; Muratori, Simona; Berti, Emilio; Marzano, Angelo Valerio (2019). ... Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ He Y, Shimoda M, Ono Y, Villalobos IB, Mitra A, Konia T, Grando SA, Zone JJ, Maverakis E (2015).
Childhood onset is typically before 5 years of age, rarely affects neonates, and tends to resolve spontaneously before puberty. ... Sites of predilection include the face, extension faces of the limbs, large body folds, buttocks and trunk. LAD can occur at any age, however there is an increased risk of chronic disease in those less than 70 years of age.
