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Rendered from PDB : 4GIZ . [106] The two primary oncoproteins of high risk HPV types are E6 and E7. The “E” designation indicates that these two proteins are early proteins (expressed early in the HPV life cycle), while the "L" designation indicates that they are late proteins (late expression). [46] The HPV genome is composed of six early (E1, E2, E4, E5, E6, and E7) open reading frames (ORF), two late (L1 and L2) ORFs, and a non-coding long control region (LCR). [107] After the host cell is infected viral early promoter is activated and a polycistronic primary RNA containing all six early ORFs is transcribed. This polycistronic RNA then undergoes active RNA splicing to generate multiple isoforms of mRNAs . [108] One of the spliced isoform RNAs, E6*I, serves as an E7 mRNA to translate E7 protein. [109] However, viral early transcription subjects to viral E2 regulation and high E2 levels repress the transcription. HPV genomes integrate into host genome by disruption of E2 ORF, preventing E2 repression on E6 and E7. Thus, viral genome integration into host DNA genome increases E6 and E7 expression to promote cellular proliferation and the chance of malignancy. The degree to which E6 and E7 are expressed is correlated with the type of cervical lesion that can ultimately develop. [101] Role in cancer The E6/E7 proteins inactivate two tumor suppressor proteins, p53 (inactivated by E6) and pRb (inactivated by E7). [110] The viral oncogenes E6 and E7 [111] are thought to modify the cell cycle so as to retain the differentiating host keratinocyte in a state that is favourable to the amplification of viral genome replication and consequent late gene expression.
Overview HPV infection is a viral infection that commonly causes skin or mucous membrane growths (warts). There are more than 100 varieties of human papillomavirus (HPV). Some types of human papillomavirus (HPV) infection cause warts, and some can cause different types of cancer. Most HPV infections don't lead to cancer. But some types of genital HPV can cause cancer of the lower part of the uterus that connects to the vagina (cervix). Other types of cancers, including cancers of the anus, penis, vagina, vulva and back of the throat (oropharyngeal), have been linked to HPV infection. These infections are often transmitted sexually or through other skin-to-skin contact.
Its genome encodes the early (E) oncoproteins E5, E6 and E7 and the late (L) capsid proteins L1 and L2. ... Like most HPV+ cancers, HPV+OPC express p16 but the latter does not function as a tumour-suppressor, because the mechanism by which this is achieved, pRb, has been inactivated by E7. p16 is upregulated (over-expressed) due to E7-related loss of pRB with reduced negative feedback, [39] [42] whereas it is downregulated in up to 90% of HPV-OPC. [43] This diffuse over-expression in the tumour cells provides a diagnostic marker for HPV involvement. [44] [45] Although HPV E6 and E7 reduce tumour suppressor activity, they do so less than genetic and epigenetic processes do in HPV-OPC. [46] [47] [11] The tonsillar epithelia ( palatine and lingual ) share similar nonkeratinization characteristics with the cervix , where HPV infection plays the major role in cases of cervical cancer . [14] [48] Also E6 and E7 may make HPV+OPC more immunogenic than HPV-OPC, since anti-E6 and E7 antibodies may be detected in these patients. ... For instance in HPV+OPC the HPV E6 and E7 oncogenes merely render the p53 and pRb pathways dormant, leaving open the possibility of reactivation of these pathways by down-regulating (reducing) expression of the oncogenes. ... This implies a role for an adaptive immune system in suppressing tumour progression . [90] [91] [89] Surgery [ edit ] Historically, surgery provided the single approach to head and neck cancer. ... In early stage disease, including involvement of neck nodes, TORS produces a 2-year survival of 80–90%. [105] TLM similarly, is reported to have a five-year survival of 78% and local control rates of 85–97%. [106] [107] In addition to early disease, minimally invasive surgery has been used in advanced cases, with up to 90% local control and disease specific survival. [94] [107] Postoperative swallowing was excellent in 87%, but long term dysphagia was associated with larger (T4) cancers, especially if involving the base of the tongue. [107] [12] The details of the surgical approach depend on the location and size of the primary tumour and its N stage.
In contrast to the ICD-10, the term BD does not appear anywhere in ICD-11. ... However, the BD diagnosis has been used as recently as 2019 in Le Groupe Hospitalier Universitaire Paris psychiatrie & neurosciences (GHU Paris), Maison Blanche Bichat XVIII. [16] Older estimates of the incidence of BD in psychiatric hospitalizations ranges from 1-5%. [17] [18] Psychiatric admission reviews show that 2-7% of first episode psychotic episodes are due to brief psychotic disorder; here serving as a surrogate diagnosis for BD. [19] Some authors state that the diagnostic category of BD can be eliminated because it can be fully integrated into the 'Polymorphic subgroup of Acute and Transient Psychotic Disorders' of the ICD-10. [20] Treatment [ edit ] There are no current published guidelines in the English language psychiatric literature that discuss treatment for BD. ... This has led to the term " culture-bound syndrome ." It must be stressed that the term BD long predates any such socio-cultural, ethnic, or regional uses. The African and Caribbean nuances of the diagnosis and presentation of BD has been extensively reviewed by Henry MB Murphy. [25] Note that DSM-5 does not use the term culture-bound and the term BD is not listed in the "Glossary of Cultural Concepts of Distress" in DSM-5. Summary [ edit ] BD is a psychotic disorder of short duration generally considered to have a relatively good prognosis.
This protein acts as a sensor for damaged DNA. [ citation needed ] Diagnosis [ edit ] Diagnosis is made by examination of the circulating lymphocytes and gene sequencing. [ citation needed ] Differential diagnosis [ edit ] Ataxia telangectasia Artemis deficiency LIG4 syndrome Nijmegen breakage syndrome Severe combined immunodeficiency with Cernunnos X-linked agammaglobulinemia Management [ edit ] This section is empty. You can help by adding to it . ( January 2018 ) Epidemiology [ edit ] This condition is rare. ... J Allergy Clin Immunol 135(6):1578-1588.e5. doi: 10.1016/j.jaci.2015.01.040. ^ Woodbine L, Neal JA, Sasi, N-K, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA (2013) PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest 123: 2969-2980 ^ van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari, P-O, Tezcan I, Chen, DJ, Zdzienicka MZ, van Dongen JJM, van Gent DC (2009) A DNA-PKCS mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest 119: 91-98
A number sign (#) is used with this entry because of evidence that immunodeficiency-26 (IMD26) is caused by homozygous or compound heterozygous mutation in the PRKDC gene (600899) on chromosome 8q11. Clinical Features Van der Burg et al. (2009) reported a Turkish girl, born of consanguineous parents, who was clinically diagnosed with severe combined immunodeficiency (SCID) at 5 months of age. She presented with recurrent candidiasis and lower respiratory tract infections, as well as a large oral aphthous lesion. B and T cells were virtually absent from peripheral blood, but NK cells were normal. Bone marrow analysis showed a complete block in B-cell differentiation, comparable to that observed in Artemis (DCLRE1C; 605988)-deficient SCID (602450), suggesting a defect in V(D)J recombination during immune development.
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Among women who experience a third or fourth degree tear, 60-80% are asymptomatic after 12 months. [21] Faecal incontinence, faecal urgency, chronic perineal pain, pain with sex, and fistula formation occur in a minority of people, but may be permanent. [22] The symptoms associated with perineal tear are not always due to the tear itself, since there are often other injuries, such as avulsion of pelvic floor muscles, that are not evident on examination. [23] There are claims that sometimes the perineum is excessively repaired after childbirth, using a so-called " husband stitch " and that this can increase vaginal tightness or result in pain during intercourse. [24] References [ edit ] ^ a b Elharmeel, Suzan MA; Chaudhary, Yasmin; Tan, Stephanie; Scheermeyer, Elly; Hanafy, Ashraf; van Driel, Mieke L (2011-08-10). ... American Journal of Obstetrics and Gynecology . 200 (5): 573.e1–573.e7. doi : 10.1016/j.ajog.2008.11.022 . ... Third degree obstetric anal sphincter tears: risk factors and outcome of primary repair" . BMJ . 308 (6933): 887–91. doi : 10.1136/bmj.308.6933.887 . ... Lancet . 354 (9183): 983–986. doi : 10.1016/S0140-6736(98)11205-9 . PMID 10501360 . S2CID 37825406 . ^ Moore JE, Witt WP, Elixhauser A (April 2014). ... Obstetrics and Gynecology . 107 (6): 1261–8. doi : 10.1097/01.aog.0000218693.24144.bd . PMID 16738150 . S2CID 23901136 . ^ Lammers, K; Prokop, M; Vierhout, ME; Kluivers, KB; Fütterer, JJ (August 2013).
Okunuki et al. (2007) used proteomic techniques to compare retinal autoantigens recognized by sera from BD patients with uveitis or healthy donors. Six protein spots showing high reactivity with the serum from the BD patients were detected as candidate retinal autoantigens, and 3 of them were identified by mass spectrometry. ... Behcet disease is most frequent in Turkey and Japan. HLA-B5 (see 142830) has been found to predominate in cases. ... Of the 505 patients from whom the age of attaining criteria could be ascertained, 106 showed definitive BD before the age of 16 years and were considered pediatric patients with BD; the other 399 were classified as nonpediatric patients. ... In genotypic differentiation between patients and controls, the authors found that only HLA-B51 was significantly associated with BD in all 3 populations. These results suggested that the pathogenic gene of BD is HLA-B51 itself and not other genes located in the vicinity of HLA-B.
Overview Behcet's (beh-CHETS) disease, also called Behcet's syndrome, is a rare disorder that causes blood vessel inflammation throughout your body. The disease can lead to numerous signs and symptoms that can seem unrelated at first. They can include mouth sores, eye inflammation, skin rashes and lesions, and genital sores. Treatment involves medications to reduce the signs and symptoms of Behcet's disease and to prevent serious complications, such as blindness. Symptoms Behcet's disease symptoms vary from person to person, can come and go or become less severe over time.
Vasculitis in BD is more frequent in the venous system where thromboses in femoro-iliac, superior and inferior vena cava and cerebral territories may occur. ... HLAB5101 antigen is associated to BD in 50-60% of patients. NF-kB activation and aberrant cytokine levels (eg- IL-6, TNF-a, IL-8, IL-12, IL-17 and IL-21) have been implicated in the pathogenesis of BD. A familial, autosomal dominant form of BD, A20 haploinsufficiency, is linked to mutations in TNFAIP3 (6q23.3). ... A family history of BD also increases the probability of diagnosis. ... Apremilast has been recently approved in refractory oral ulceration of BD. Efficacy is dependent upon rapid initiation and patient compliance.
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils.
Behçet disease leads to swelling of the blood vessels and affects multiple organs throughout the body. Symptoms generally begin when individuals are in their 20s or 30s, but may occur at any age. Symptoms may include ulcers affecting the mouth and genitals, various skin lesions, and swelling of the membranes affecting the eyes. In some people, symptoms include arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive tract, brain, and spinal cord. Symptoms of Behçet disease may be active and then become inactive, but they never completely go away.
Please help improve this article by adding citations to reliable sources . ... Please help improve this section by adding citations to reliable sources . ... The American Journal of Emergency Medicine . 36 (8): 1525.e5–1525.e7. doi : 10.1016/j.ajem.2018.05.002 .
Please help improve this article by adding citations to reliable sources . ... It is suggested that the pathogenesis of the two types are probably different.[3] Statistics indicate that approximately 75% (772 of 1031) BD patients advanced to parenchymal NBD while 17.7% (183 of 1031) of BD patients advanced to non-parenchymal NBD. ... On the other hand, some doctors only give steroids and immunosuppressants alone. [8] [9] Epidemiology [ edit ] In one study of 387 Behçet's disease (BD) patients that has been done for 20 years, 13% of men with BD developed to NBD and 5.6% of women developed to NBD. ... J Neurol Neurosurg Psychiatry . 64 (3): 382–84. doi : 10.1136/jnnp.64.3.382 . PMC 2169980 . ... "Neurological complications of Behçet's syndrome" . Brain . 122 (11): 2183–94. doi : 10.1093/brain/122.11.2183 .
Diagnosis [ edit ] This section is empty. You can help by adding to it . ( January 2019 ) Treatment [ edit ] Doctors recommend discontinuing the use of phenytoin. ... The American Journal of Emergency Medicine . 33 (1): 123.e5–123.e6. doi : 10.1016/j.ajem.2014.05.039 .
Please help improve this article by adding links that are relevant to the context within the existing text. ( October 2013 ) ( Learn how and when to remove this template message ) This article may be too technical for most readers to understand . ... You can help by adding to it . ( March 2018 ) [4] [13] [14] See also [ edit ] Vanishing twin Twin-to-twin transfusion syndrome References [ edit ] ^ a b Lopriore, E.; Middeldorp, J.M.; Oepkes, D.; Kanhai, H.H.; Walther, F.J.; Vandenbussche, F.P.H.A. (2007). ... American Journal of Obstetrics and Gynecology . 199 (5): 514.e1–514.e8. doi : 10.1016/j.ajog.2008.03.050 . ... American Journal of Obstetrics and Gynecology . 201 (4): 417.e1–417.e7. doi : 10.1016/j.ajog.2009.07.046 . ... American Journal of Obstetrics and Gynecology . 198 (2): e4–e7. doi : 10.1016/j.ajog.2007.08.073 .
Brody myopathy Other names Brody disease (BD) This condition is inherited in an autosomal recessive manner Specialty Neurology Brody myopathy, is a rare disorder that affects skeletal muscle function. [1] BD was first characterized in 1969 by Dr. ... Brody at Duke University Medical Center . [2] Individuals with BD have difficulty relaxing their muscles after exercise. [2] This difficulty in relaxation leads to symptoms including cramps , stiffness , and discomfort in the muscles of the limbs and face. [2] Symptoms are heightened by exercise and commonly progress in severity throughout adulthood. [1] Contents 1 Cause 2 Diagnosis 3 Treatment 4 References 5 External links Cause [ edit ] Most cases of BD are inherited through autosomal recessive mutations in ATP2A1 , where each copy of the affected individual's gene contain a mutation. [1] The gene involved in BD encodes the fast-twitch skeletal muscle ATPase, SERCA1 . [3] SERCA1 is a protein pump that uses ATP to pump Ca 2+ ions from the cytosol to the sarcoplasmic reticulum in skeletal muscle. [3] In those with BD, SERCA1 pumps are unable to effectively move Ca 2+ across the membrane , leading to increased levels of cytoplasmic Ca 2+ . [3] Increases in cytoplasmic Ca 2+ levels interfere with muscle contraction , leading to the characteristic symptoms of BD. [3] In some cases of BD, no mutations in ATP2A1 have been observed. [1] Disease transmission in cases of non- ATP2A1 BD have been characterized as autosomal dominant pattern of inheritance. [1] These cases have revealed that the cause of the disease likely exhibits genetic heterogeneity , meaning the disease involves mutations in other locations within the genome (although no other loci have been identified in the development of BD as of now). [4] Diagnosis [ edit ] Diagnosis of BD begins with clinical evaluation of individuals for characteristic symptoms of cramping and stiffness of exercised muscles. [2] A few techniques are involved in confirming a diagnosis of BD. [ citation needed ] Blood testing may be used to measure serum creatine kinase , which ranges from normal to slightly elevated in those with BD. [5] Skeletal muscle biopsies are used to examine muscle fibers . Biopsies in individuals with BD often show variation in muscle fiber size, atrophied fast-twitch muscle fibers, and increased nuclei number. [6] Electromyography (EMG) can be used in diagnosis to rule out myotonia , or muscle stiffness that is detected by EMG. Individuals with BD have stiff muscles but normal EMG results (pseudo-myotonia), where no myotonic discharges are detected. [1] Genetic testing may also be used in the diagnosis of BD to look for mutations in ATP2A1 . [7] Since only some forms of the disease are associated with ATP2A1 , results of genetic testing do not always confirm a diagnosis of BD, but are useful to rule out other similar disorders. [ citation needed ] Treatment [ edit ] There is no cure for BD, although treatment options are available for reducing the negative symptoms of BD. The drugs dantrolene and verapamil are used in BD treatment due to their effects on Ca 2+ . [1] Dantrolene is a muscle relaxer that decreases the symptoms of BD by inhibiting Ca 2+ release channels in the sarcoplasmic reticulum, while verapamil sequesters Ca 2+ in the sarcoplasmic reticulum of muscle cells by functioning as a Ca 2+ channel blocker . [8] [9] These drugs act by limiting the amount of Ca 2+ from being released from the sarcoplasmic reticulum.
A number sign (#) is used with this entry because of evidence that Brody myopathy is caused by homozygous or compound heterozygous mutation in the ATP2A1 gene (108730), which encodes the fast-twitch skeletal muscle sarcoplasmic reticulum Ca(2+) ATPase (SERCA1), on chromosome 16p11. Description Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000). Clinical Features Brody (1969) defined a disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. In a normal muscle contraction/relaxation cycle, Ca(2+) is released from the sarcoplasmic reticulum into the cytoplasm, where it binds to troponin in the thin filament, releasing constraints on the interaction between actin and myosin and inducing muscle contraction. Ca(2+) is then pumped back into the lumen of the sarcoplasmic reticulum by the Ca(2+) pump to initiate relaxation.
Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis).
A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.
Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown.
Epidemiology Prevalence of clinical biotinidase deficiency (BD) is estimated to be 1/61,000. Carrier frequency in the general population is approximately 1/120. Clinical description Symptoms of BD deficiency typically appear within the first few months of life, but later onset has also been reported. ... Individuals with untreated partial BD (10% to 30% of mean normal biotinidase activity) may be asymptomatic, but during periods of stress, such as illness, fever or fasting, may develop symptoms similar to those of individuals with profound BD. ... There are more than 150 known mutations of the BTD gene that cause BD. Diagnostic methods The disorder is detected through newborn screening when available. ... Prognosis The prognosis for individuals diagnosed with BD is very good, provided they are treated before symptoms occur and are compliant with biotin therapy.
Molecular Genetic Testing Used in Biotinidase Deficiency View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 Detectable by Method BTD Sequence analysis 3 ~99% 4 Gene-targeted deletion/duplication analysis 5 See footnote 6 1. ... The liquid preparations usually do not provide a consistent dose and should not be added to milk in a bottle. The biochemical abnormalities and seizures rapidly resolve after biotin treatment, followed by improvement of the cutaneous abnormalities.
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. Epidemiology The prevalence of BD is unknown. Clinical description Affected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and proviso born alive have severe cardio respiratory failure. ... Boomerang dysplasia clinically differs from AOI and AOIII because of the boomerang shaped bowing of the femur and occasionally observed encephalocele and omphalocele. Etiology BD results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, normally expected to translate full length but biochemically abnormal filamin B protein. ... Distinctive radiographic findings are similar to AOI but, BD presents with a more severe deficiency in mineralization, with non-ossification of certain segments of limbs and vertebrates, and a boomerang-like shape of some long tubular bones. ... Antenatal diagnosis The prenatal diagnosis of BD is difficult to ascertain by ultrasound.
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet ) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
A number sign (#) is used with this entry because of evidence that boomerang dysplasia (BOOMD) is caused by heterozygous mutation in the FLNB gene (603381) on chromosome 3p14. Clinical Features Kozlowski et al. (1981), Tenconi et al. (1983), and Kozlowski et al. (1985) each described 1 patient with a disorder termed boomerang dysplasia because of the unusual shape of the long bones of the legs. All 3 patients died in the neonatal period. They had dwarfism with short, bowed, rigid limbs and characteristic facies. In particular, the nose had a broad root and severe hypoplasia of the nares and septum. Radiographically, the radii and fibulae were absent, while the remaining long bones had the boomerang configuration.
Journal of Minimal Access Surgery . 4 (4): 95–98. doi : 10.4103/0972-9941.45204 . PMC 2699222 . ... "An Unexpected Cause of Acute Abdomen" . Gastroenterology . 153 (4): e4–e5. doi : 10.1053/j.gastro.2017.01.057 . ... Annals of the Royal College of Surgeons of England . 95 (2): 98–100. doi : 10.1308/003588413X13511609957092 . ... "Incidence and outcome of surgical repair of spigelian hernia". The British Journal of Surgery . 91 (5): 640–4. doi : 10.1002/bjs.4524 . ... "Congenital Spigelian hernia with cryptorchidism: probably a new syndrome". Hernia . 9 (4): 378–80. doi : 10.1007/s10029-005-0316-z .
"A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation". Fertil. Steril . 92 (6): 2037.e5–2037.e9. doi : 10.1016/j.fertnstert.2009.08.013 . ... "Does severe teratozoospermia affect blastocyst formation, live birth rate, and other clinical outcome parameters in ICSI cycles?". Fertil Steril . 93 (4): 1097–1103. doi : 10.1016/j.fertnstert.2008.10.051 .
This means that the spermatozoa show the same abnormality, and over 85% of spermatozoa in sperm have this abnormality. [1] Globozoospermia is responsible for less than 0.1% of male infertility. [2] It is characterised by round-headed spermatozoa without acrosomes , an abnormal nuclear membrane and midpiece defects. [1] Affected males therefore suffer from either reduced fertility or infertility. [2] Studies suggest that globozoospermia can be either total (100% round-headed spermatozoa without acrosomes) or partial (20-60% round acrosomeless spermatozoa with normal sperm also identified in the sperm count, [3] ) however it is unclear whether these two forms are variations on the same syndrome, or actually different syndromes. [2] Infertility in this condition results from the sperm heads missing their acrosome . ... "Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient". Fertility and Sterility . 90 (4): 1202.e1–5. doi : 10.1016/j.fertnstert.2007.11.056 . ... Proceedings of the National Academy of Sciences of the United States of America . 99 (17): 11211–11216. doi : 10.1073/pnas.162027899 .
Stroke (Sixth ed.). Elsevier. pp. 413–448.e7. doi : 10.1016/B978-0-323-29544-4.00026-8 . ... The movements may involve the Eustachian tube and make a click that the patient can hear. ^ Zadikoff C, Lang AE, Klein C. (29 November 2005). "The 'essentials' of essential palatal tremor: a reappraisal of the nosology" .
Bipolar disorder NOS Specialty Psychiatry Bipolar disorder not otherwise specified ( BD-NOS ) is a diagnosis for bipolar disorder (BD) when it does not fall within the other established sub-types. Bipolar disorder NOS is sometimes referred to as subthreshold bipolar disorder. [1] Contents 1 Classification 2 Diagnosis 3 Treatment 4 Epidemiology 5 References 6 External links Classification [ edit ] BD-NOS is a mood disorder and one of three subtypes on the bipolar spectrum, which also includes bipolar I disorder and bipolar II disorder . [1] BD-NOS was a classification in the DSM-IV and has since been changed to Bipolar "Other Specified" and "Unspecified" in the 2013 released DSM-5 (American Psychiatric Association, 2013). ... Bipolar NOS may be diagnosed when it is difficult to tell whether bipolar is the primary disorder due to another general medical condition, such as a substance use disorder. [3] Treatment [ edit ] Individual approaches to treatment are recommended, usually involving a combination of mood stabilizers and atypical antipsychotics . [4] Psychotherapy may be beneficial and should be started early. [4] Epidemiology [ edit ] The prevalence of BD-NOS is 1.4%. [1] References [ edit ] ^ a b c "International impact of bipolar disorder highlights need for recognition and better treatment availability" .
A defect in bicarbonate reabsorption with normal urinary acidification" . Pediatr. Res . 1 (2): 81–98. doi : 10.1203/00006450-196703000-00001 . ... Journal of the American Society of Nephrology . 13 (8): 2160–2170. doi : 10.1097/01.ASN.0000023430.92674.E5 . ISSN 1046-6673 . PMID 12138150 . ^ Gahl WA, Thoene JG, Schneider JA (2002). ... Its resemblance to renal tubular acidosis" . J. Clin. Invest . 47 (6): 1389–98. doi : 10.1172/JCI105830 . PMC 297294 . ... Nephrol . 13 (8): 2160–70. doi : 10.1097/01.ASN.0000023430.92674.E5 . PMID 12138150 . ^ McSherry E (1981).
Growth retardation and reduced bone density, due to metabolic acidosis, are seen in autosomal dominant pRTA (AD pRTA; see this term). Hypokalemia may be present in some cases of pRTA and can occasionally cause symptoms of hypokalemic periodic paralysis (see this term). ... AR pRTA is due to a mutation in the SLC4A4 gene (4q13.3) that encodes the electrogenic sodium bicarbonate cotransporter 1 (kNBC1). AD pRTA is due to mutations in a gene that has not yet been identified. As the proximal tubule reabsorbs around 80% of the filtered load of bicarbonate, a defect in it leads to the loss of bicarbonate.
Proximal RTA is distinct from classic, or distal, RTA (see 179800), which is characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. Thus, excretion of ammonium ions and titratable acid are reduced, and urinary pH is usually above 6.5 despite overt acidosis. In the proximal, or bicarbonate-wasting, type of RTA, excretion of acid in the distal tubule is normal, and the urine is normally acidic, with a pH down to 5 during acidosis. In this type of RTA, an inability to reabsorb bicarbonate in the proximal tubules causes hyperchloremic acidosis. Type II RTA is a feature of the Fanconi syndrome (see 134600). As an isolated defect, it is a transitory condition in male infants, with growth retardation as the main clinical feature (Nash et al., 1972).
The people that met the criteria were more likely than others to have worse symptoms when their psychosis returned (relapsed), have residual psychotic symptoms, had overall worse health outcomes at 6 month follow-up, and were more likely to live in residential care. [14] Further reading [ edit ] Chouinard G, Jones BD (1980). "Neuroleptic-induced supersensitivity psychosis: clinical and pharmacologic characteristics". ... Biol Psychiatry . 34 (10): 713–38. doi : 10.1016/0006-3223(93)90044-e . PMID 7904833 . Notes [ edit ] ^ Whitaker's book, a New York Times bestseller, discusses the work of Chouinard and Jones in the section "Supersensitivity Psychosis". ... Katzung & Trevor's Pharmacology: Examination & Board Review (12 ed.). McGraw-Hill. ^ Chouinard G, Jones BD, Annable L (1978). "Neuroleptic-induced supersensitivity psychosis". ... "Tardive psychosis: Does it exist?". Psychopharmacology . 94 (1): 144–5. doi : 10.1007/BF00735897 . ... Schizophr Res . 5 (1): 21–33. doi : 10.1016/0920-9964(91)90050-2 . PMID 1677263 . ^ Whitaker, Robert (2015).