Symptoms of functional neurological disorders are clinically recognisable, but are not categorically associated with a definable organic disease. [7] The intended contrast is with an organic brain syndrome , although the terms imply a level of certainty about causation that is often clinically unconfirmed. ... At the same time, the origin of symptoms is complex since it can be associated with physical injury, severe psychological trauma (conversion disorder), and idiopathic neurological dysfunction. [ citation needed ] The core symptoms are those of motor or sensory function or episodes of altered awareness: [ citation needed ] Limb weakness or paralysis Blackouts (also called dissociative or non-epileptic seizures/attacks) – these may look like epileptic seizures or faints Movement disorders including tremors , dystonia (spasms), myoclonus (jerky movements) Visual symptoms including loss of vision or double vision Speech symptoms including dysphonia (whispering speech), slurred or stuttering speech Sensory disturbance including hemisensory syndrome (altered sensation down one side of the body) Associated conditions [ edit ] Epidemiological studies and meta-analysis have shown higher rates of depression and anxiety in patients with FND compared to the general population, but rates are similar to patients with other neurological disorders such as epilepsy or Parkinson's disease . ... Patients with functional neurological disorders are more likely to have a history of another illness such as irritable bowel syndrome, chronic pelvic pain or fibromyalgia but this cannot be used to make a diagnosis. ... Wessely and White have argued that FND may merely be an unexplained somatic illness (like fibromyalgia, irritable bowel syndrome, or chronic fatigue syndrome) single disorder than separate disorders. [28] References [ edit ] ^ a b Carson, A.; et al. ... "There is only one functional somatic syndrome" (PDF) . The British Journal of Psychiatry . 185 (2): 95–96. doi : 10.1192/bjp.185.2.95 .
For the philosophical use, see Atopy (philosophy) . Atopy Other names Atopic syndrome Eczema —a typical atopic manifestation Pronunciation / ˈ æ t ə p iː / [1] Specialty Dermatology , immunology Atopy is the tendency to produce an exaggerated IgE immune response to otherwise harmless environmental substances, while an allergic disease can be defined as the clinical manifestation of this inappropriate IgE immune response. [2] Atopy may have a hereditary component, although contact with the allergen or irritant must occur before the hypersensitivity reaction can develop. [3] Maternal psychological trauma in utero may also be a strong indicator for development of atopy. [4] The term atopy was coined by Coca and Cooke in 1923. [5] [6] Many physicians and scientists use the term "atopy" for any IgE -mediated reaction (even those that are appropriate and proportional to the antigen), but many pediatricians reserve the word "atopy" for a genetically mediated predisposition to an excessive IgE reaction. [7] The term is from Greek ἀτοπία meaning "the state of being out of place", "absurdity". [8] Contents 1 Signs and symptoms 2 Pathophysiology 3 Causes 3.1 Genetics 3.2 Staphylococcus aureus 4 Changes in prevalence 5 Treatments 6 See also 7 References 8 External links Signs and symptoms [ edit ] Atopic sensitization is considered IgE positivity or prick test positivity to any common food or air born allergen. [9] Atopic conditions are considered: atopic dermatitis , allergic rhinitis (hay fever), allergic asthma . ... Department of Health and Human Services. v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease
This might provide an alternate explanation for the presence of mild mirror movements in normally developing young children that typically disappear before the age of 7. [24] Some researchers propose that DCC mutations cause a reduction in gene expression and less robust midline guidance , which may lead to a partial failure of axonal fiber crossing and encourage development of an abnormal ipsilateral connection. [7] This is confirmed by other researchers who demonstrate that patients with DDC mutants show an increased proportion of ipsilateral axonal projections, and show that even a very small number of aberrant ipsilateral descending axons is sufficient to induce incorrect movement patterns. [11] [14] [25] These findings are corroborated by evidence from mice models, Kanga mice with a deletion of DCC , whose CST has been shown not to be altered , but rather partially rerouted ipsilaterally. [16] Diagnosis [ edit ] Currently, clinical diagnosis of CMM disorder has been based on clinical findings or molecular genetic testing . [2] Clinical Findings (Signs and Symptoms) [1] [2] [10] [26] [14] : onset of mirror movements in infancy or early childhood persistence of mirror movements into and throughout adulthood with the absence of other neurologic disorders little improvement nor deterioration of mirror movements over the course of one’s life intensity of mirrored movements increasing with the complexity of the voluntary movement involuntary mirror movements that are generally of lesser amplitude compared with voluntary movements predominant mirror movement in upper limbs, with increasing severity in more distal appendages (fingers) inability to perform tasks requiring skilled bimanual coordination occasional pain in the upper limbs during prolonged manual activities occasional observed subclinical mirroring movement, but detectable with accelerometer gloves Molecular genetic testing [1] : identification of a heterozygous mutant DCC, DNAL4, or RAD51 gene ( single gene test or multi-gene panel) Treatment and Management [ edit ] CMM has clear severe impacts on a patient’s ability to carry out daily manual tasks . [27] [17] It is recommended that children be placed under more forgiving school environments, allowing more time for written evaluations and limiting handwritten assignments, to ease the burden of the movement disability. [1] [3] Furthermore, because of patients’ inability to perform pure unilateral movements and their difficulty with tasks requiring skilled bimanual coordination, young and new members to the workforce are encouraged to consider professions that do not require complex bimanual movements, repetitive or sustained hand movements, or extensive handwriting, to reduce overuse, pain, and discomfort in upper limbs. [2] [5] Because of its pronounced and obviously noticeable signs and symptoms, CMM patients can suffer social stigma ; however, physicians need to make it clear to parents, family, and friends that the disorder bears no relation to intellectual abilities . [5] [28] However, the rarity of this neurologic disease, found in one in a million people, makes its societal and cultural significance quite limited. [6] Related Diseases [ edit ] Movement disorders Chiari malformation Klippel-Feil Syndrome Dystonia Cerebral palsy Parkinson's disease Epilepsies Amyotrophic lateral sclerosis Kallman's syndrome Alien hand syndrome Obsessive compulsive disorder Schizophrenia Congenital hemiplegia Moebius syndrome Seckel syndrome Wildervanck syndrome Polymicrogyria References [ edit ] ^ a b c d e f g h i j k l m n o Reference, Genetics Home.
Although primary dengue infections are mostly recovered, a secondary infection with a different serotype of the virus leads to the complex condition of dengue hemorrhagic fever (DHF) with plasma leakage and thrombocytopenia or a more fatal condition, dengue shock syndrome (DSS). High fever, hemorrhagic phenomenon, hepatomegaly, and circulatory failure are mainly associated with DHF. ... Khor et al. (2011) performed a genomewide association study of 2,008 pediatric cases treated for dengue shock syndrome and 2,018 controls from Vietnam. ... SNPs at 2 loci showed genomewide significant association with dengue shock syndrome. Khor et al. (2011) identified a susceptibility locus at MICB (602436), which was within the broad MHC region on chromosome 6 but outside the class I and class II HLA loci (rs3132468, p(meta) = 4.41 x 10(-11), per-allele odds ratio = 1.34, 95% confidence interval 1.23-1.46).
In both, the first manifestation took the form of generalized epileptic seizures, at ages 30 and 32, followed by a cerebellar syndrome with myoclonic jerks and extrapyramidal symptoms. ... Patients with CLN6 have retinal involvement, whereas none of the Kufs syndrome patients had retinal involvement. The authors suggested that Kufs syndrome patients may have some residual mutant protein function or that there are other disease modifiers.
A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693). Nomenclature The CLNs were originally classified broadly by age at onset: CLN1 as the infantile-onset form, or the infantile-onset Finnish form, having first been described in that population; CLN2 as the late infantile-onset form; CLN3 as the juvenile-onset form; and CLN4 as the adult-onset form.
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development.
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-8 (CLN8) is caused by homozygous or compound heterozygous mutation in the CLN8 gene (607837) on chromosome 8p23. See also the Northern epilepsy variant of CLN8 (610003), an allelic disorder with a different phenotype. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-2 is caused by homozygous or compound heterozygous mutation in the TPP1 gene (607998) on chromosome 11p15. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
Jansky–Bielschowsky disease Jansky–Bielschowsky disease is inherited in an autosomal recessive manner Specialty Medical genetics Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. [1] Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function ( ataxia ), drug resistant seizures ( epilepsy ), apraxia , development of muscle twitches ( myoclonus ), and vision impairment. [1] This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. [1] The prevalence of Jansky–Bielschowsky disease is unknown, however NCL collectively affects an estimated 1 in 100,000 individuals worldwide. [2] Jansky–Bielschowsky disease is related to late-infantile Batten disease and LINCL [ citation needed ] , and is under the umbrella of neuronal ceroid lipofuscinosis . [2] Contents 1 Signs and symptoms 2 Pathology 3 Diagnosis 4 Treatment 5 Eponym 6 References 7 External links Signs and symptoms [ edit ] This section is empty. You can help by adding to it . ( May 2017 ) Pathology [ edit ] The majority of cases are a result of mutations in the TPP1 gene, however mutations in the CLN5 , CLN6 , CLN8 , MFSD8 , and PPT1 genes also account for a small number of cases. [3] These mutations result in reduced activity of peptidase enzymes, particularly affecting lysosomes , but other mutations can affect protein catabolism in white blood cells , fibroblasts , and chorionic villi . [2] The reduced function of these enzymes results in insufficient or incomplete breakdown of proteins, consequently resulting in the buildup of lipopigments in the lysosome. Though the accumulation of lipopigments occurs throughout the body, neurons are especially vulnerable to damage by lipopigment aggregation; a ubiquitous accumulation in lipopigments occurs in neurons , primarily concentrated in the cerebral and cerebellar cortices. [4] This accumulation results in atrophy in these regions of the brain, and cause the pathogenesis of signs and symptoms of Jansky–Bielschowsky disease. Currently, it is unclear what mechanism in relation to enzyme activity is responsible for the buildup of lipoproteins. [2] Diagnosis [ edit ] Diagnosis of Jansky–Bielschowsky disease is increasingly based on assay of enzyme activity and molecular genetic testing.
Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Epidemiology LINCLs have been reported in populations with diverse ethnic origins with the highest prevalence being reported in Finland (around 1/385,000), estimates of below 1/1,000,000 in other Scandinavian counties and an annual incidence at birth of at least 1/200,000 in Germany. Clinical description The initial clinical symptoms are motor or/and cognitive decline or epilepsy but the mean age of onset and speed of progression may vary depending on the underlying genetic defect. Patients with classic LINCL generally present with a standstill of mental development or the onset of severe epilepsy around the third year of life. The disorder progresses to complete loss of almost all motor and mental capacities before school age.
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-7 (CLN7) is caused by homozygous or compound heterozygous mutation in the MFSD8 gene (611124), which encodes a putative lysosomal transporter, on chromosome 4q28. Description The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). Clinical Features Topcu et al. (2004) reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous. The mean age at disease onset was 5.1 years (range, 2 to 7 years), with seizures or motor impairment as the most common presenting symptom.
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-5 (CLN5) is caused by homozygous or compound heterozygous mutation in the CLN5 gene (608102) on chromosome 13q22. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
They used the deletion of nucleotide pair 4977, which is called the 'common deletion' because it has been found in about one-third of all Kearns-Sayre syndrome patients (530000). By this method, they estimated that there is a 10,000-fold increase in the deleted mtDNA species in muscle during the course of the normal human life span. ... Scaffidi and Misteli (2006) showed that the same molecular mechanism responsible for Hutchinson-Gilford progeria syndrome (HGPS; 176670) is active in healthy cells, implicating lamin A (150330) in physiologic aging. ... Patients with dyskeratosis congenita have a premature aging syndrome that can be caused by mutations in the RNA or catalytic component of telomerase (see TERC, 602322 and TERT, 187270).
The VHL gene is also mutated in von Hippel-Lindau syndrome (193300). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). ... Spinocerebellar hemangioblastomas, renal carcinomas, and pheochromocytomas typical of classic VHL syndrome were not found, suggesting that overexpression of the alpha subunit of hypoxia-inducible factor-1 (HIF1A; 603348) and VEGF is not sufficient for tumorigenesis. ... Gordeuk et al. (2004) concluded that Chuvash polycythemia is a distinct syndrome manifested by thrombosis, vascular abnormalities, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
Overview An incompetent cervix happens when weak cervical tissue causes or plays a part in a premature birth or the loss of a healthy pregnancy. An incompetent cervix also is called cervical insufficiency. The cervix is the lower part of the uterus that opens to the vagina. Before pregnancy, it's usually closed and firm. As pregnancy goes on and you get ready to give birth, the cervix slowly changes. It softens, gets shorter and opens. If you have an incompetent cervix, it might begin to open too soon causing you to give birth too early. An incompetent cervix can be a hard problem to diagnose and treat. If your cervix begins to open early, or if you've had cervical insufficiency in the past, you might benefit from treatment.
Once the child tolerates the milk, a vegetable mix can be added including sesame, casein, and sugar. [6] Refeeding must be done slowly to avoid refeeding syndrome . Once children start to recover, they should have more balanced diets which meet their nutritional needs. ... External links [ edit ] Classification D ICD - 10 : E41 - E42 ICD - 9-CM : 261 MeSH : D011502 DiseasesDB : 7826 External resources eMedicine : ped/164 v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight
External links [ edit ] Classification D ICD - 10 : N82.0 v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder v t e Women's health Reproductive & Sexual health Reproductive health Reproductive tract External female genitalia (vulva) Clitoris Clitoral hood Labia minora Labia majora Vagina Cervix Uterus Fallopian tube Ovary Reproductive system disease Maternal health Pregnancy Unintended pregnancy Gravidity and parity Obstetrics Antenatal care Adolescent pregnancy Complications of pregnancy Hyperemesis gravidarum Ectopic pregnancy Miscarriage Obstetrical bleeding Gestational diabetes Hypertension Preeclampsia Eclampsia Childbirth Midwifery Preterm birth Multiple births Oxytocin Obstructed labor Cesarian section Retained placenta Obstetrical fistulae Vesicovaginal fistula Rectovaginal fistula Episiotomy husband stitch Postpartum care Postpartum confinement Maternal deaths Perinatal mortality Stillbirths Abortion Mother-to-child transmission Sterilization Compulsory sterilization Breastfeeding and mental health Reproductive life plan Infertility Childlessness Assisted reproductive technology In vitro fertilization Parenting Adoption Fostering Contraception & Family planning Unsafe sex Intrauterine devices Oral contraceptives Condoms Contraceptive prevalence Contraceptive security Planned parenthood Fertility awareness Menstruation Culture and menstruation Feminine hygiene Menarche Menstrual cycle Menstrual aids Cloth menstrual pad Menstrual cup Tampon Sanitary pad Dysmenorrhea Menorrhagia Amenorrhoea Menopause Hormone replacement therapy Sexual health Sexually transmitted infections HIV Human papilloma virus HPV vaccine Pelvic inflammatory disease Female genital mutilation Clitoridectomy Infibulation Breast ironing Child marriage Forced marriage Leblouh Polygamy Sexual intercourse Orgasm Dyspareunia Sex differences Sex education Puberty Breast health Gynaecological disorders Vaginitis Non-reproductive health Violence against women Abuse during childbirth Domestic violence Intimate partner violence Misogyny Sexual harassment Sexual assault Rape Femicide Gender discrimination Non-communicable diseases Cancer Lung cancer Breast cancer Uterine cancer Endometrial cancer Cervical cancer Papanicolaou test Ovarian cancer Cardiovascular disease Dementia Alzheimer's disease Bone health Osteoporosis Hip fracture Anaemia Mental health Anxiety Depression Major depressive disorder Urinary tract Urethra Urinary tract infection Urinary incontinence Sociocultural factors Poverty Disadvantaged Gender equality Healthcare inequality Gender disparities in health Social determinants of health Reproductive justice Women's empowerment Politics, Research & Advocacy United Nations The Convention on the Elimination of All Forms of Discrimination against Women Declaration on the elimination of violence against women International Day of the Girl Child Commission on the Status of Women UN Women United States Office of Research on Women's Health Women's Health Initiative International Center for Research on Women Nurses' Health Study Black Women's Health Study Cartwright Inquiry Society for Women's Health Research Women's health by country Women's health in China Women's health in Ethiopia Women's health in India Family planning Birth control in the United States Category Commons WikiProject
External links [ edit ] Classification D ICD - 9-CM : 277.2 OMIM : 103050 MeSH : C538235 DiseasesDB : 33422 External resources Orphanet : 46 Scholia has a topic profile for Adenylosuccinate lyase deficiency . v t e Inborn error of purine–pyrimidine metabolism Purine metabolism Anabolism Adenylosuccinate lyase deficiency Adenosine Monophosphate Deaminase Deficiency type 1 Nucleotide salvage Lesch–Nyhan syndrome / Hyperuricemia Adenine phosphoribosyltransferase deficiency Catabolism Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Xanthinuria Gout Mitochondrial neurogastrointestinal encephalopathy syndrome Pyrimidine metabolism Anabolism Orotic aciduria Miller syndrome Catabolism Dihydropyrimidine dehydrogenase deficiency v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
She was initially diagnosed with West syndrome (308350). The first admission was at 9 weeks of age. ... They also had unusual behavioral features, including excessive laughter, very happy disposition, hyperactivity, short attention span, mouthing of objects, tantrums, and stereotyped movements, which were reminiscent of Angelman syndrome (AS; 105830). Both had had an increased succinyladenosine/SAICAr ratio of 1.6.
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. Epidemiology The prevalence and incidence of ADSL deficiency are unknown. More than 80 cases have been reported to date, mostly from Europe and the Mediterranean region. The disorder may be underdiagnosed as it is probably panethnic. Clinical description ADSL covers a continuous clinical spectrum with three major forms: fatal neonatal, severe (type I), and mild to moderate form (type II). Clinical variability is found, even in patients from the same family.
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size (microcephaly ). Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems.
Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features , epilepsy, low muscle tone, and feeding problems. In the most severe form of this condition, symptoms begin in infancy and death usually occurs in early childhood. Adenylosuccinase deficiency occurs due to a ADSL gene that is not working correctly and is inherited in an autosomal recessive fashion.
A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruptions, affecting pregnant women typically during the second and third trimester. Skin eruptions may include erythematous papules and plaques, erythema multiforme-like or eczematous lesions, papulovesicles, and bullae, and typically affect the umbilicus, abdomen, and extremities. Epidemiology The estimated incidence ranges between 1/3,000-60,000 pregnancies. Clinical description Pemphigoid gestationis (PG) Pemphoid gestationis (PG) typically presents during the second or third trimesters, although onset during the first trimester and postpartum is possible. Pruritus can be the presenting symptom and may remain the only symptom.
Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder . It usually begins abruptly during the 2nd or 3rd trimester of pregnancy, but it can begin at any time during pregnancy. Signs and symptoms often include the sudden formation of very itchy, red bumps and/or blisters on the abdomen and trunk, which may then spread to other parts of the body. Unrelenting itchiness (pruritus) often interferes with daily activities. Symptoms may improve at the end of pregnancy, but flares may occur during, or right after, delivery.
Overview Bladder exstrophy (EK-stroh-fee) is a rare birth defect in which the bladder develops outside the fetus. The exposed bladder can't store urine or function normally, resulting in urine leakage (incontinence). Problems caused by bladder exstrophy vary in severity. They can include defects in the bladder, genitals and pelvic bones, as well as defects in the intestines and reproductive organs. Bladder exstrophy may be spotted on a routine ultrasound during pregnancy. Sometimes, though, the defect isn't visible until the baby is born. Babies born with bladder exstrophy will need surgery to correct the defects.
In addition, she had macrothrombocytopenia consistent with Epstein syndrome (155100) and a heterozygous mutation in the MYH9 gene (160775.0012). ... All cases were reviewed and classified as isolated, syndromic, or occurring with multiple congenital anomalies.
A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. Epidemiology The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported. Clinical description CEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface.
Testicle pain Other names Scrotal pain, orchialgia 1 - 6: Epididymis 7: Vas deferens Specialty Urology Diagnostic method Ultrasound , urine tests , blood tests [1] [2] Differential diagnosis Acute : Epididymitis , testicular torsion , testicular cancer , varicocele , Fournier gangrene [1] Chronic : Varicocele , spermatocele , Henoch–Schönlein purpura , post-vasectomy pain syndrome , chronic pelvic pain syndrome [2] Testicular pain , also known as scrotal pain , occurs when part or all of either one or both testicles hurt. ... Chronic scrotal pain [ edit ] Chronic scrotal pain (pain for greater than 3 months) may occur due to a number of underlying conditions. [3] It occurs in 15-19% of men post vasectomy , due to infections such as epididymitis , prostatitis , and orchitis , as well as varicocele , hydrocele , spermatocele , polyarteritis nodosa , testicular torsion , previous surgery and trauma. [3] In 25% of cases the cause is never determined. [3] The pain can persist for a long and indefinite period of time following the vasectomy , in which case it is termed post-vasectomy pain syndrome (PVPS). Differential diagnosis [ edit ] See also: List of the causes of genital pain The differential diagnosis of testicular pain is broad and involves conditions from benign to life-threatening.