Sometimes an individual can, in attempts to recover from codependency, go from being overly passive or overly giving to being overly aggressive or excessively selfish . [25] Many therapists maintain that finding a balance through healthy assertiveness (which leaves room for being a caring person and also engaging in healthy caring behavior) is true recovery from codependency and that becoming extremely selfish, a bully , or an otherwise conflict-addicted person is not. [25] [26] Developing a permanent stance of being a victim (having a victim mentality ) would also not constitute true recovery from codependency and could be another example of going from one extreme to another. [25] A victim mentality could also be seen as a part of one's original state of codependency (lack of empowerment causing one to feel like the "subject" of events rather than being an empowered actor). [25] Someone truly recovered from codependency would feel empowered and like an author of their life and actions rather than being at the mercy of outside forces. [25] A victim mentality may also occur in combination with passive–aggressive control issues. [25] From the perspective of moving beyond victim-hood, the capacity to forgive and let go (with exception of cases of very severe abuse) could also be signs of real recovery from codependency, but the willingness to endure further abuse would not. [25] Unresolved patterns of codependency can lead to more serious problems like alcoholism, drug addiction, eating disorders , sex addiction , psychosomatic illnesses, and other self-destructive or self-defeating behaviors . [28] People with codependency are also more likely to attract further abuse from aggressive individuals (such as those with BPD or NPD ), more likely to stay in stressful jobs or relationships, less likely to seek medical attention when needed and are also less likely to get promotions and tend to earn less money than those without codependency patterns. [28] For some people, the social insecurity caused by codependency can progress into full-blown social anxiety disorders like social phobia , avoidant personality disorder or painful shyness . [28] Other stress-related disorders like panic disorder , depression or PTSD may also be present. [28] Controversy [ edit ] While Timmen Cermak, M.D., proposed that co-dependency be listed as a personality disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-III-R; American Psychiatric Association, 1987), it was not accepted by the committee and, as such, no medical consensus exists on the definition of codependency. [1] With no definition, the term is easily applicable to many behaviors and has been overused by some self-help authors and support communities. [29] Some clinicians think that the term codependency has been overused by the general populace and labeling a patient as codependent can be confusing and may even shame them rather than help them focus on how their traumas shape their current relationships. [30] Codependency is a theory.
In the period 2000 to 2004, abortion was the third leading cause of maternal mortality in the country, accounting for 12% of all maternal deaths. [28] While there are no accurate statistics, it is estimated that between 2000 and 2002 there were between 132,000 and 160,000 abortions in the country. [29] A 1997 study found that the majority of eighty women prosecuted in Santiago for having an abortion were young, single mothers, and that many were domestic workers who had moved to the city from rural areas. ... Archived from the original on 2007-12-28 . Retrieved 2010-12-30 . ^ a b "El Tribunal Constitucional de Chile da luz verde a la despenalización del aborto en tres causales en histórica decisión" . ... "Chilean Tribunal Weighs In: Some Abortions Will Now Be Legal" – via NYTimes.com. ^ a b "Aborto en tres causales: Isapres comienzan a cubrir nuevas prestaciones relacionadas a esta norma" (in Spanish). Emol. 28 January 2018. ^ a b "RES-23 EXENTA 27-ENE-2018 MINISTERIO DE SALUD" (in Spanish). ... Archived from the original on 2009-10-28. ^ http://www.cadem.cl/wp-content/uploads/2017/01/Track-PP158-Ene-S3-VF.pdf [ permanent dead link ] ^ a b "Organismos internacionales insisten en despenalizar aborto terapéutico en Chile" (in Spanish). 2009-03-17.
ACTG1 is the same gene that, when mutated, causes Baraitser-Winter syndrome. [28] A loss-of-function mutation in the Doublesex- and Mab-3–Related Transcription factor A2 ( DMRTA2 , also known as DMRT5) gene has been reported in a case of microlissencephaly, implicating DMRTA2 as a critical regulator of cortical neural progenitor cell dynamics. [29] Microlissencepahly is considered a tubulinopathy (tubulin gene defect) [30] i.e. is caused by mutation in tubulin genes, mainly TUBA1A [31] and less commonly TUBB2B , TUBB3 , TUBA3E and TUBG1 . [32] Central pachygyria , polymicrogyria are more commonly seen in patients with defects in TUBB2B , TUBB3 , and TUBB5 . [33] This implys the critical role of microtubule cytoskeleton in the pathophysiology of microlissencephaly as well as other neuronal migration disorders. [20] Congenital infections like cytomegalovirus are also known to cause microlissencephaly. [16] Both microlissencephaly and microcephaly with simplified gyral pattern result from either decreased stem cell proliferation or increased apoptosis in the germinal zone of the cerebral cortex . [2] Diagnosis [ edit ] Microlissencephaly can be diagnosed by prenatal MRI . [30] MRI is better than ultrasound when it comes to detecting microlissencephaly or MSGP prenatally. [34] The ideal time for proper prenatal diagnosis is between the 34th and 35th gestational week which is the time when the secondary gyration normally terminates. In microlissencephaly cases, the primary sulci would be unusually wide and flat while secondary sulci would be missing. [35] At birth, lissencephaly with a head circumference of less than minus three standard deviations (< –3 SD) is considered microlissencephaly. [36] Although genetic diagnosis in patients with MLIS is challenging, exome sequencing has been suggested to be a powerful diagnostic tool. [28] Dobyns-Barkovich classification [ edit ] In 1999, Dobyns and Barkovich suggested a classification of patients with severe microcephaly combined with gyral abnormalities including: microcephaly with simplified gyral pattern (MSGP), microlissencephaly and polymicrogyria . ... usually present not present (MSGP is usually isolated) Prognosis [ edit ] Microlissencephaly usually leads to an early fatal outcome during the neonatal period. [28] Epidemiology [ edit ] Microlissencephaly is listed in Orphanet database as a rare disease. [15] There is not much information available about the epidemiology of microlissencepahly in literature. ... Proceedings of the National Academy of Sciences . 114 (28): E5599–E5607. doi : 10.1073/pnas.1705186114 .
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
A number sign (#) is used with this entry because lissencephaly-4 (LIS4) is caused by homozygous mutation in the NDE1 gene (609449) on chromosome 16p13. Mutation in the NDE1 gene has also been reported in microhydranencephaly (MHAC; 605013). Description Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
A number sign (#) is used with this entry because of evidence that lissencephaly-6 with microcephaly (LIS6) is caused by homozygous mutation in the KATNB1 gene (602703) on chromosome 16q21. Description Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). Clinical Features Mishra-Gorur et al. (2014) reported clinical details of 7 patients from 5 unrelated families, 4 of whom were consanguineous, with microcephaly and various complex malformations of cortical development.
Athletes with sickle cell trait and their instructors must be aware of the dangers of the condition during anaerobic exertion especially in hot and dehydrated conditions. [25] In rare cases, exercise-induced dehydration or exhaustion may cause healthy red blood cells to turn sickle-shaped, which can cause death during sporting activities. [26] While more research is necessary on the topic, the correlation found between individuals with sickle cell trait and an increased risk of sudden death appears to be related to microcirculatory disorders, during exercise. [27] In recent years the NCAA has partnered with the ACSM and issued a joint statement, warning athletes about both the prevalence and the potential risk factors of sickle cell trait. [28] The NCAA has also recently encouraged athletes to become aware of their sickle cell trait status, as the trait itself does not typically result in symptoms under normal conditions but can become dangerous during extreme physical activity similar to the daily training that athletes undergo. ... The resulting microvasculatory distress in capillaries specific to muscle tissue can cause acute rhabdomyolysis and necrosis within the muscle cells. [28] [29] The inflammation and leakage of intracellular material resulting from muscle cell necrosis releases a particular protein, myoglobin , into the blood stream. ... Among these preventative measures are proper hydration [25] and gradual acclimation to conditions such as heat, humidity, and decreased air pressure due to higher altitude. [28] [29] [32] Gradual progression of exertion levels also helps athletes' bodies adjust and compensate, gaining fitness slowly over the course of several weeks. [28] [29] [33] See also [ edit ] Ryan Clark (American football) References [ edit ] ^ Roach, E.
Some cases may arise from balanitis (inflammation of the glans penis). [27] Lichen sclerosus et atrophicus (thought to be the same condition as balanitis xerotica obliterans ) is regarded as a common (or even the main) [28] cause of pathological phimosis. [29] This is a skin condition of unknown origin that causes a whitish ring of indurated tissue (a cicatrix ) to form near the tip of the prepuce. ... Archived from the original on 5 November 2017 . Retrieved 28 October 2016 . ^ a b c d e f g h "What are the treatment options for phimosis?" ... Archived from the original on 5 November 2017 . Retrieved 28 October 2016 . ^ a b c d e f McGregor, TB; Pike, JG; Leonard, MP (March 2007). ... "The prevalence of phimosis of the clitoris in women presenting to the sexual dysfunction clinic: lack of correlation to disorders of desire, arousal and orgasm". J Sex Marital Ther . 28 (Suppl 1): 181–5. doi : 10.1080/00926230252851302 .
In addition to hair abnormalities, common reported features were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%; primarily cataract), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%), and defective DNA repair (37%). ... Corrective lenses were required by 65% of the participants, and decreased best-corrected visual acuity was present in 28% of TTD patients and 71% of XP/TTD patients. ... Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; 126340.0006) seen previously in TTD patients, and a leu485-to-pro mutation (L485P; 126340.0013) on the other allele.
Food & Drug Administration. Archived from the original on 28 May 2016 . Retrieved 28 May 2016 . ^ Marks, Dawn B.; Swanson, Todd; Kim, Sandra I.; Glucksman, Marc (2007). ... Consciousness and Cognition . 58 : 97–110. doi : 10.1016/j.concog.2017.10.015 . ISSN 1053-8100 . Retrieved 28 November 2019 . ^ Nitrous Oxide ^ Vijverberg, H.P., van den Bercken, J.
Data from Switzerland , for example, demonstrated a decline in the prevalence of analgesic nephropathy among people with end-stage kidney disease, from 28% in 1981 to 12% in 1990. [4] An autopsy study performed in Switzerland suggested that the prevalence of analgesic nephropathy in the general population has likewise decreased; the prevalence was 3% in 1980 and 0.2% in 2000. [8] While these data demonstrate that analgesic nephropathy has been all but eliminated in some regions, in other regions the condition persists. ... "Relevance of animal models to analgesic-associated renal papillary necrosis in humans". Kidney Int . 28 (4): 605–13. doi : 10.1038/ki.1985.172 . ... "Combination analgesic-induced kidney disease: the Australian experience". Am. J. Kidney Dis . 28 (1 Suppl 1): S39–47. doi : 10.1016/S0272-6386(96)90568-5 .
Applied behavioral analysis (ABA) [ edit ] Applied behavioral analysis (ABA) is considered the most effective therapy for Autism spectrum disorders by the American Academy of Pediatrics . [24] ABA focuses on teaching adaptive behaviors like social skills, play skills, or communication skills [25] [26] and diminishing problematic behaviors like eloping or self-injury [27] by creating a specialized plan that uses behavioral therapy techniques, such as positive or negative reinforcement, to encourage or discourage certain behaviors over-time. [28] Medication [ edit ] There are no medications specifically designed to treat autism. ... "An update on pharmacotherapy for autism spectrum disorder in children and adolescents". Current Opinion in Psychiatry . 28 (2): 91–101. doi : 10.1097/YCO.0000000000000132 . ... US Autism and Asperger Association . Archived from the original on 28 December 2015 . Retrieved 16 December 2015 . ^ Strunecká, A (2011).
Contents 1 Honey bee stings 2 Venom and apitherapy 3 Treatment 4 See also 5 References 6 External links Honey bee stings [ edit ] Microscope magnified image of a queen wasp's stinger The left side of the image shows the ≈4 °C (7 °F) temperature increase (saturated red zone) caused by a bee sting after about 28 hours. A honey bee that is away from the hive foraging for nectar or pollen will rarely sting, except when stepped on or roughly handled. ... Encyclopedia.com . HighBeam Research . Retrieved 28 September 2016 . ^ American Cancer Society's Guide to complementary and alternative cancer methods . ... Science-Based Medicine . Retrieved 28 September 2016 . ^ Visscher P, Vetter R, Camazine S (1996).
Overview Bee stings are a common outdoor nuisance. In most cases, bee stings are just annoying, and home treatment is all that's necessary to ease the pain. But if you're allergic to bee stings or you get stung numerous times, you may have a more-serious reaction that requires emergency treatment. You can take several steps to avoid bee stings — as well as hornet and wasp stings — and find out how to treat them if you do get stung. Symptoms Bee stings can produce different reactions, ranging from temporary pain and discomfort to a severe allergic reaction. Having one type of reaction doesn't mean you'll always have the same reaction every time you're stung or that the next reaction will necessarily be more severe.
Most therapies are related to symptoms and day-to-day living. [4] For cases related to focal brain lesions, epilepsy surgery or functional hemispherectomy may be considered. [7] [3] [28] Risk factors include infection, blood loss, loss of vision, speech, memory, or movement. [ citation needed ] Therapy for those with OS are based on severity of seizure activity and are supportive in nature. ... "NINDS Ohtahara Syndrome Information Page" . Archived from the original on 28 February 2009 . Retrieved 2009-03-10 . ^ Ohtahara S, Ishida T, Oka E, et al. (1976). ... "Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome)". Journal of Child Neurology . 28 (12): 1607–1617. doi : 10.1177/0883073812464395 .
A number sign (#) is used with this entry because infantile epileptic encephalopathy-13 (EIEE13) is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Veeramah et al. (2012) reported a girl with early-onset epileptic encephalopathy. She developed refractory generalized seizures at age 6 months. At age 4 years, the seizure phenotype changed to epileptic spasms, followed by regression of speech and language skills. She also had developmental delay, intellectual disability, hypotonia, and difficulties with coordination and balance.
SCN8A encephalopathy is a very rare form of early-onset epilepsy that causes multiple types of seizures and developmental delay or regression (loss of skills). Seizures begin during the first 18 months of life, at an average age of 4 months. Types of seizures may include generalized tonic-clonic seizures , infantile spasms , absence seizures , and focal seizures . Other signs and symptoms of SCN8A encephalopathy may include low muscle tone (hypotonia), a high pain tolerance, movement disorders (such as dystonia and ataxia), mild to severe intellectual disability, sleep problems, and autistic-like features . In some people with SCN8A encephalopathy, various other medical problems have been reported including hearing or vision problems, scoliosis, and difficulty regulating body temperature.
SCN8A -related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy. The seizures in SCN8A -related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A -related epilepsy with encephalopathy have more than one type of seizure. The frequency of seizures in different individuals with this condition ranges from hundreds per day to fewer than one per month. In many individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications.
Summary Clinical characteristics. SCN8A -related epilepsy with encephalopathy is characterized by developmental delay, seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and absence and focal seizures). Epilepsy syndromes can include Lennox-Gastaut syndrome, West syndrome, and epileptic encephalopathies (e.g., Dravet syndrome). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common. Psychomotor development varies from normal prior to seizure onset (with subsequent slowing or regression after seizure onset) to abnormal from birth. Intellectual disability, present in all, ranges from mild to severe (in ~50% of affected individuals).
The Boston Criteria require evidence of multiple lobar or cortical hemorrhages to label a patient as probably having CAA. [26] Susceptibility weighted imaging has been proposed as a tool for identifying CAA-related microhemorrhages. [28] Imaging [ edit ] Cerebral amyloid angiopathy can be presented with lobar intracerebral hemorrhage or microbleeds in the brain. ... ISBN 9780199710041 . ^ Godefroy, Olivier (2013-02-28). The Behavioral and Cognitive Neurology of Stroke . ... PMC 6059159 . PMID 28334869 . Retrieved 28 August 2020 . Further reading [ edit ] Chao, Christine P.; Kotsenas, Amy L.; Broderick, Daniel F.
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein ( amyloid ) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life. There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. Based on the region in which they were first described, the subtypes include: The Dutch , Arctic , Piedmont , Iowa , Flemish , Italian types are caused by mutations in the APP gene The British and Danish types are caused by mutations in the ITM2B gene The Icelandic type is caused by mutations in the CST3 gene All types of HCHWA currently described are inherited in an autosomal dominant manner. There is no cure for HCHWA, however, antihypertensive therapy is typically recommended.
A number sign (#) is used with this entry because of evidence that this form of cerebral amyloid angiopathy (CAA) is caused by mutation in the gene encoding cystatin C (CST3; 604312) on chromosome 20p11.2. For a discussion of genetic heterogeneity of CAA, see 605714. Description Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA). Clinical Features Arnason (1935) described 10 Icelandic families with a high incidence of cerebral hemorrhage and concluded that a hereditary form of the disease was present in these families. Also in Iceland, Gudmundsson et al. (1972) studied a kindred in which 18 persons in 3 generations had cerebral hemorrhage, some of them at a young age.
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Epidemiology The prevalence is unknown. HCHWA has been described in several families from all over the world. The estimated number of affected patients is between 300 and 400. Clinical description Unlike sporadic forms of cerebral amyloid angiopathy (CAA), HCHWA usually presents in younger patients (<55 years of age) and has more severe manifestations. Clinical features depend on the HCHWA disease type, with 7 discovered to date: Icelandic, Dutch, Arctic, Piedmont, Iowa, Flemish and Italian (see these terms). In general, patients present with either a stroke (with headache, nausea, vomiting, focal neurological deficits, and alterations in consciousness) or progressive dementia of the Alzheimer type.
Convulsive seizures occurred in 73% of patients, with onset between 20 and 28 years. Other neurologic features included ataxia and dysarthria, and 8 patients had cerebellar atrophy on MRI. ... She developed focal segmental glomerulosclerosis at age 22 years and had a renal transplant at age 28. Neurologic symptoms began at age 25, with fine action tremor of the hands and deterioration in walking.
Congenital disorder of nervous system Dentatorubral–pallidoluysian atrophy Dentatorubral–pallidoluysian atrophy is inherited in an autosomal dominant manner. Specialty Neurology Dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. [1] It is also known as Haw River Syndrome and Naito–Oyanagi disease . Although this condition was perhaps first described by Smith et al. in 1958, and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan. There are at least eight neurodegenerative diseases that are caused by expanded CAG repeats encoding polyglutamine (polyQ) stretches (see: Trinucleotide repeat disorder ). The expanded CAG repeats create an adverse gain-of-function mutation in the gene products.
Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function . The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at rest and is most noticeable when trying to make small movements, such as writing. Over time, tremors can affect other parts of the body, such as the head, torso, legs, and tongue. Eventually, the tremors worsen to become myoclonic jerks, which can be triggered by voluntary movements or the intention to move (action myoclonus).
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
The mutation truncated DAF near the N terminus, explaining the complete absence of surface DAF in the red cells of the individual. In a 28-year-old Japanese woman, Wang et al. (1998) demonstrated that the Cromer Inab phenotype was due to homozygosity for a c.1579C-A transversion at the position 24 bp upstream of the 3-prime end of exon 2 of the CD55 gene (125240.0002). ... Flow cytometry initially indicated that the patient's red blood cells lacked CD55 (1.6% of that of control); however several months later, CD55-positive cells had increased to 28% of control, and the anti-IFC was virtually undetectable.
A number sign (#) is used with this entry because of evidence that autosomal recessive primary hypertrophic osteoathropathy-1 (PHOAR1) is caused by homozygous mutation in the HPGD gene (601688) on chromosome 4q34. Isolated digital clubbing (119900) as well as cranioosteoarthropathy can also be caused by homozygous mutation in the HPGD gene. Description Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.
Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis ) and presacral mass consisting of a teratoma , anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present. Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons. Currarino triad is most often caused by mutations in the MNX1 gene . Treatment depends on the type and severity of abnormalities present, but may involve surgery.
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Epidemiology Prevalence is unknown. To date, about 30 cases have been reported. Clinical description COA presents in childhood with features of primary hypertrophic osteoarthropathy including digital clubbing and clinodactyly of the fingers, eczematous skin eruption, arthropathy and periosteal new bone formation as well as poor neurocranium ossification with delayed closure of the cranial sutures and fontanels, resulting in wide fontanels, and an increased number of wormian bones. COA may also be associated with congenital heart disease. Etiology It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait; however, heterozygous carriers can have a mild phenotype.
Currarino syndrome Other names Currarino triad An X-ray showing Imperforate anus The Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis ) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum . It occurs in approximately 1 in 100,000 people. [1] Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome occurring in 60% of cases. Its presence may significantly affect the surgical management of these patients. [2] [3] Other potential presacral masses include presacral teratoma and enteric cyst. Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma . However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind. [4] Contents 1 Genetics 2 Diagnosis 3 Treatment 3.1 Posterior approach 3.2 Anterior approach 4 See also 5 References 6 External links Genetics [ edit ] Currarino syndrome has an autosomal dominant pattern of inheritance The disorder is an autosomal dominant genetic trait [5] caused by a mutation in the HLXB9 homeobox gene.
Movement Disorders: a video atlas. New York: Humana Press; 2012:28-29. ^ a b Jeppesen DK, Bohr VA, Stevnsner T (July 2011). ... PMID 21550379 . ^ Spinocerebellar ataxia with axonal neuropathy type 2 Orphanet. Retrieved 28 December 2019 ^ a b Klivényi, P, Nemeth, D, Sefcsik, T, Janacsek, K, Hoffmann, I, Haden, G, Londe, Z, Vecsei, L.
Mean age at the time of antenatal diagnosis is about 28 weeks [3] A microscopic analysis of urine in individuals with probable multicystic dysplastic kidney should be done. [4] One meta-analysis demonstrated that unilateral MCDK occurs more frequently in males and the greater percentage of MCKD occur on the left side of the body. [11] Treatment [ edit ] MCDK is not treatable. ... Ultrasound in Medicine & Biology . 28 (7): 853–858. doi : 10.1016/s0301-5629(02)00535-5 .
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.
Asystole is found initially in only about 28% of cardiac arrest cases in hospitalized patients, [1] but only 15% of these survive, even with the benefit of an intensive care unit , with the rate being lower (6%) for those already prescribed drugs for high blood pressure . [2] Asystole is treated by cardiopulmonary resuscitation (CPR) combined with an intravenous vasopressor such as epinephrine (a.k.a. adrenaline). [3] Sometimes an underlying reversible cause can be detected and treated (the so-called " Hs and Ts ", an example of which is hypokalaemia ). ... Critical Care Nursing Clinics of North America . 28 (3): 317–329. doi : 10.1016/j.cnc.2016.04.004 .
Womens-health-beauty.com . Retrieved 28 November 2011 . ^ Brendler; et al. ... Thedoctorsdoctor.com. 1 December 2008 . Retrieved 28 November 2011 . ^ Tamega A, Aranha AM, Guiotoku MM, Miot LD, Miot HA (1 January 2010).
Abortion in Azerbaijan is legal on request up to 12 weeks of pregnancy, and in specific circumstances between 12 and 28 weeks. [1] The current abortion law of Azerbaijan is based on the abortion law of the Soviet Union of 1955 when Azerbaijan was a Republic of the Soviet Union (as the Azerbaijan Soviet Socialist Republic ), and no changes were made after Azerbaijan became independent in 1991. [2] Between 1965 and 1987 the abortion rate used to be very high (between 20 and 28%). [3] Since independence, the abortion rate has almost halved and relatively stabilized after 2000 (between 12 and 14%). [3] In the 2014, 13.8% of pregnancies in Azerbaijan ended in abortion, a slight rise from the all-time low recorded in 2005 (12.1%). [3] History [ edit ] As in all of the former USSR , Azerbaijan, known prior to 1992 as the Azerbaijan Soviet Socialist Republic , was subject to the abortion legislation and regulations of the former Union of Soviet Socialist Republics.
