ART (Anti Retroviral Therapy) along with ATT (Anti Tuberculosis Treatment) is the only available treatment in present time. [13] Though the timing of starting ART is the debatable question due to the risk of immune reconstitution inflammatory syndrome (IRIS). The advantages of early ART include reduction in early mortality, reduction in relapses, preventing drug resistance to ATT and reduction in occurrence of HIV-associated infections other than TB. [14] The disadvantages include cumulative toxicity of ART and ATT, drug interactions leading to inflammatory reactions are the limiting factors for choosing the combination of ATT and ART. [15] A systematic review investigated the optimal timing of starting antiretroviral therapy in adults with newly diagnosed pulmonary tuberculosis . [16] The review authors included eight trials, that were generally well-conducted, with over 4500 patients in total. ... Research at molecular level [ edit ] A study conducted on 452 patients revealed that the genotype responsible for higher IL-10 expression makes HIV infected people more susceptible to tuberculosis infection. [17] Another study on HIV-TB co-infected patients also concluded that higher level of IL-10 and IL-22 makes TB patient more susceptible to Immune reconstitution inflammatory syndrome (IRIS). [18] It is also seen that HIV co-infection with tuberculosis also reduces concentration of immunopathogenic matrix metalloproteinase (MMPs) leading to reduced inflammatory immunopathology . [19] References [ edit ] ^ World Health Organization (2012). ... "Incidence and Predictors of Mortality and the Effect of Tuberculosis Immune Reconstitution Inflammatory Syndrome in a Cohort of TB/HIV Patients Commencing Antiretroviral Therapy" . Journal of Acquired Immune Deficiency Syndromes . 58 (1): 32–37. doi : 10.1097/QAI.0b013e3182255dc2 . ... "Role of the Interleukin 10 Family of Cytokines in Patients With Immune Reconstitution Inflammatory Syndrome Associated With HIV Infection and Tuberculosis" .
ISBN 9780965993036 External links [ edit ] OSF Healthcare The Sleep Well Somniloquies in the form of albums and books by Bryan Lewis Saunders Filmmaker Adam Rosenberg's four-minute film of himself sleeptalking v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring
Interrupted aortic arch (especially Type B) is often associated with DiGeorge syndrome . Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 3.1 Classification 4 Treatment 4.1 Prostaglandins 4.2 Surgery 5 Prognosis 5.1 Surgical complications 6 Epidemiology 7 History 8 Research directions 9 References 10 Further reading 11 External links Signs and symptoms [ edit ] Patients with an interrupted aortic arch usually have symptoms from birth, with nearly all presenting symptoms within two weeks (when the ductus arteriosus is usually closed). [2] Causes [ edit ] It is thought that an interrupted aortic arch occurs through excessive apoptosis in the developing, embryonic aorta. [3] Around 50% of patients have DiGeorge syndrome . [2] [4] Diagnosis [ edit ] It can be diagnosed with a standard echocardiogram . [4] An echocardiogram can also aid in classifying the type of defect. [4] The diagnosis can also be made prior to birth via ultrasound . [3] Patients will have a loss of appetite, appear tired and weak, and exhibit rapid breathing and a rapid heart rate . [5] If the condition progresses, the infant may turn pale, feel cold in the lower half of the body, and have a weak pulse due to insufficient blood flow. [5] The pattern of pulse abnormalities is dependent upon the classification; e.g., for type B interrupted aortic arch, the right brachial pulse will be palpable and the left brachial and femoral pulses will be impalpable due to closure of the ductus arteriosus . [3] Rarely, an interrupted aortic arch can be associated with an intracranial aneurysm . [6] Signs of ischemia due to interrupted aortic arch can be separated by the organ system involved: [3] Liver injury : elevated serum glutamic oxaloacetic transaminase (SGOT) (also known as aspartate transaminase, AST) and lactic acid dehydrogenase (LDH) Kidney injury : elevated serum creatinine Intestinal injury: signs of necrotizing enterocolitis , such as bloody stools CHARGE syndrome , a specific, rare pattern of genetic abnormalities, commonly features conotruncal and aortic arch heart defects, which can include an interrupted aortic arch. [7] Classification [ edit ] There are three primary classifications for an interrupted aortic arch, on the basis of the specific, anatomic anomaly. [5] They are: Type A : The aortic arch is interrupted after the left subclavian artery . [2] [5] Type B : The aortic arch is interrupted between the left common carotid artery and the left subclavian artery . This is the most common form of the condition, and is the classification most often associated with DiGeorge syndrome . [2] [5] Type C : The aortic arch is interrupted between the innominate artery and the left common carotid artery . ... External links [ edit ] Classification D ICD - 10 : Q25.2 ( EUROCAT ) ICD - 9-CM : 747.11 External resources eMedicine : ped/2515 v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation
A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Find sources: "Blepharospasm" – news · newspapers · books · scholar · JSTOR ( February 2009 ) ( Learn how and when to remove this template message ) Blepharospasm Other names Eye dystonia Animated image of benign fasciculation syndrome in the upper eyelid of a 19-year-old male. ... Blepharospasm is sometimes part of benign fasciculation syndrome . Although there is no cure, botulinum toxin injections may help temporarily. [1] [2] A surgical procedure known as myectomy may also be useful. [1] BEB is a fairly rare disease, affecting only one in every 20,000 people in the United States. [3] The word is from Greek: βλέφαρον / blepharon, eyelid, and σπασμός / spasmos, spasm , an uncontrolled muscle contraction. ... Prolonged use of benzodiazepines can induce blepharospasm and is a known risk factor for the development of blepharospasm. [5] Blepharospasm may also come from abnormal functioning of the brain's basal ganglia . [6] Simultaneous dry eye and dystonias such as Meige's syndrome have been observed. Blepharospasms can be caused by concussions in some rare cases, when a blow to the back of the head damages the basal ganglia. [7] Multiple sclerosis can cause blepharospasm. [8] Treatment [ edit ] Drug therapy for blepharospasm has proved generally unpredictable and short-termed. ... External links [ edit ] Classification D ICD - 10 : G24.5 ICD - 9-CM : 333.81 OMIM : 606798 MeSH : D001764 DiseasesDB : 15748 External resources MedlinePlus : 000756 eMedicine : oph/202 Patient UK : Blepharospasm Blepharospasm – Resource Guide from the National Eye Institute (NEI) v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome . Treatment includes standard methods for hair removal such as shaving, laser hair removal , electrolysis , chemical methods and others.
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.
A number sign (#) is used with this entry because of evidence that Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is caused by homozygous mutation in the DDRGK1 gene (616177) on chromosome 20p13. Description Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017). Clinical Features Shohat et al. (1993) described 3 patients, 2 brothers and a son of their male cousin, with spondyloepimetaphyseal dysplasia (SEMD). All 3 boys had severe short stature, short neck, small chest, distended abdomen, lumbar lordosis, and marked genu varum.
Megarbane et al. (2004) described what they considered to be a newly recognized autosomal recessive syndrome in a 4-year-old girl, the offspring of healthy first-cousin Lebanese parents.
Sigmund Freud (1895) reported that he and one of his sons had this condition. The carpal tunnel syndrome (115430) is another entrapment neuropathy that is sometimes familial.
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence.
Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or all of of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester of pregnancy. The presence of an extra copy of only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals.
They based this conclusion on the finding of a 10-fold greater response to beta-adrenergic agonists (as monitored by intracellular cyclic AMP accumulation) in cultured fibroblasts from Down syndrome patients than that in either normal diploid skin fibroblasts or other aneusomic fibroblasts (trisomy 13, 18, 22).
Castori et al. (2007) suggested that the family reported by Kumar and Levick (1986) may have Cooks syndrome (106995). Nails - Anonychia - Onychodystrophy Inheritance - Autosomal dominant Limbs - Ectrodactyly - Absent/hypoplastic metacarpals - Absent/hypoplastic distal phalanges - Hypoplastic metatarsals Skin - Ectodermal dysplasia ▲ Close
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability.
Nevus psiloliparus Specialty Dermatology Nevus psiloliparus is a cutaneous condition, a rare scalp anomaly characterized by a variable degree of alopecia and an excessive amount of adipose tissue. [1] It is the main hallmark of encephalocraniocutaneous lipomatosis (ECCL), otherwise known as Haberland syndrome . [2] See also [ edit ] Congenital erosive and vesicular dermatosis List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
According to the WHO classification, three lesional patterns can be observed Inflammatory myofibroblastic tumour , that can be associated with an ALK gene rearrangement Plasmocytic pattern (" plasma cell granuloma "), that can be linked to IgG4-related disease Fibrous and hyalinizing pattern: Pulmonary hyalinizing granuloma References [ edit ] This medical sign article is a stub . You can help Wikipedia by expanding it . v t e
Inflammatory myofibroblastic tumour Other names Inflammatory fibrosarcoma [1] Micrograph of an inflammatory myofibroblastic tumour of the kidney. Kidney biopsy . H&E stain . Inflammatory myofibroblastic tumour is a lesional pattern of inflammatory pseudotumour , as plasma cell granuloma . [2] It is abbreviated IMT . Contents 1 Symptoms 2 Pathology 3 Diagnosis 3.1 Localization 4 Treatment 5 See also 6 References 7 External links Symptoms [ edit ] The symptoms depend on the specific location of the tumour, which can be anywhere in the body. [3] Pathology [ edit ] Inflammatory myofibroblastic tumours are characterized by a mix of inflammatory cells, e.g. plasma cells , lymphocytes and eosinophils , and bland spindle cells without nuclear atypia . These tumours may have necrosis , hemorrhage , focal calcification and mitotic activity. The histologic differential diagnosis includes: calcifying fibrous pseudotumour inflammatory fibroid tumour nodular fasciitis .
An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery . Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and become locally invasive and/or spread ( metastasize ) to other parts of the body.
This article is an orphan , as no other articles link to it . Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2013 ) Inflammatory myeloblastic tumor Inflammatory myeloblastic tumor (IMT), also known as an "inflammatory pseudotumor", is a rare benign tumor occurring in the liver and/or bile ducts. [1] References [ edit ] ^ Faraj W., Ajouz H., Mukherji D. et al. World J Surg Oncol 2011; 9:5. This oncology article is a stub . You can help Wikipedia by expanding it . v t e
Newcomb et al. (1967) described an apparently 'new' bleeding syndrome characterized by deep tissue bleeding, poor wound healing, pseudotumor formation, and umbilical cord bleeding.