Familial spontaneous pneumothorax and mutation CASE STUDY
... Mutations in FLCN cause the BHD syndrome and mutations have been identified along the entire length of the gene (exons 4, 5, 6, 7, 9, 11, 12, 13 and 14) [4]. The isolated pneumothorax phenotype has previously been reported in association with mutations on exon 4 [5] and exons 9 and 12 [6]. It is pos ...
... Mutations in FLCN cause the BHD syndrome and mutations have been identified along the entire length of the gene (exons 4, 5, 6, 7, 9, 11, 12, 13 and 14) [4]. The isolated pneumothorax phenotype has previously been reported in association with mutations on exon 4 [5] and exons 9 and 12 [6]. It is pos ...
Cardiovascular Malformations and Complications in Turner Syndrome
... syndrome in our clinic population have had cardiac echocardiography performed on at least one occasion. An additional 28 have had normal examinations by cardiologists, but they are not included in the results, because structural malformations may not result in detectable murmurs or electrocardiograp ...
... syndrome in our clinic population have had cardiac echocardiography performed on at least one occasion. An additional 28 have had normal examinations by cardiologists, but they are not included in the results, because structural malformations may not result in detectable murmurs or electrocardiograp ...
The implications of genetic mutations in the sodium channel gene (SCN5A) REVIEW
... isolated PCCD (Lev–Lenegre disease)[2,4,28,38]. SCN5A mutations have been identified in the patients diagnosed as having this disorder, thus confirming that SUNDS and BS are the same clinical entity. SCN5A seems to play different kinds of roles, leading in an apparent Ôsplit personalityÕ clinically. In ...
... isolated PCCD (Lev–Lenegre disease)[2,4,28,38]. SCN5A mutations have been identified in the patients diagnosed as having this disorder, thus confirming that SUNDS and BS are the same clinical entity. SCN5A seems to play different kinds of roles, leading in an apparent Ôsplit personalityÕ clinically. In ...
Cardiac Channelopathies and Sudden Death: Recent Clinical and
... heart, which could underlie the pathogenesis of BrS-pattern ECG [42]. KCNE5 is located on the X chromosome and encodes an auxiliary β subunit for K channels. Mutations in KCNE5 cause modifications to potassium channels that lead to an increase in the Ito current and have been linked to BrS [43]. Fun ...
... heart, which could underlie the pathogenesis of BrS-pattern ECG [42]. KCNE5 is located on the X chromosome and encodes an auxiliary β subunit for K channels. Mutations in KCNE5 cause modifications to potassium channels that lead to an increase in the Ito current and have been linked to BrS [43]. Fun ...
Congenital Heart Disease
... CV defects among most common malformations and are the most common cause of heart disease in children Higher in premies and stillborns ...
... CV defects among most common malformations and are the most common cause of heart disease in children Higher in premies and stillborns ...
The Deletion Stocks of Common Wheat
... 7 triple-deletion lines, and 3 in 3 quadruple-deletion lines. The fewer number of deletions than are expected from the number of multiple-deletion lines are due to the fact that part of the deletions involved in the multiple-deletion lines also were established in the single-deletion lines. Figure 3 ...
... 7 triple-deletion lines, and 3 in 3 quadruple-deletion lines. The fewer number of deletions than are expected from the number of multiple-deletion lines are due to the fact that part of the deletions involved in the multiple-deletion lines also were established in the single-deletion lines. Figure 3 ...
Gene Section JAG1 (jagged 1 (Alagille syndrome)) Atlas of Genetics and Cytogenetics
... Jagged1 and jagged2 in dog (Canis familiaris); Partial jagged1 in Bos Taurus; JAGGED2 in Homo sapiens. ...
... Jagged1 and jagged2 in dog (Canis familiaris); Partial jagged1 in Bos Taurus; JAGGED2 in Homo sapiens. ...
Myocardial infarction in an individual with Wolff-Parkinson
... death. Nevertheless, it is clear that CBN is observed in cases of sudden death [14]. CBN was described in young subjects dying suddenly and unexpectedly with no clinical history of any disease. They had normal coronary arteries; the unique findings were CBN and myofiber breakup. The latter may be al ...
... death. Nevertheless, it is clear that CBN is observed in cases of sudden death [14]. CBN was described in young subjects dying suddenly and unexpectedly with no clinical history of any disease. They had normal coronary arteries; the unique findings were CBN and myofiber breakup. The latter may be al ...
Volume 11 - Número 6 - Novembro / Dezembro de 2001
... insufficiency, elevated serum cholesterol and hypercalcemia during infancy, with symptoms and signs such as hypotonia, constipation, anorexia, vomiting, polyuria, polydipsia, renal insufficiency, vicarious calcification, and transient facial palsy. Autism has been reported. The molecular defect unde ...
... insufficiency, elevated serum cholesterol and hypercalcemia during infancy, with symptoms and signs such as hypotonia, constipation, anorexia, vomiting, polyuria, polydipsia, renal insufficiency, vicarious calcification, and transient facial palsy. Autism has been reported. The molecular defect unde ...
Reverse Takotsubo Cardiomyopathy
... in regard to ECG changes, ST elevations in the anterolateral leads are the most common manifestation.17 Our patient had ST depressions in the anterolateral leads that were consistent with the reverse morphology of her presentation. Modest elevations of cardiac enzymes have been seen, and a recent st ...
... in regard to ECG changes, ST elevations in the anterolateral leads are the most common manifestation.17 Our patient had ST depressions in the anterolateral leads that were consistent with the reverse morphology of her presentation. Modest elevations of cardiac enzymes have been seen, and a recent st ...
Scimitar syndrome in an older adult - Journal of the Chinese Medical
... sonography and neither pulmonary hypertension nor atrial septal defects were observed, invasive cardiac catheterization was not performed. The patient also refused cardiac catheterization or further surgical intervention. 3. Discussion Scimitar syndrome is a rare congenital heart disease first repor ...
... sonography and neither pulmonary hypertension nor atrial septal defects were observed, invasive cardiac catheterization was not performed. The patient also refused cardiac catheterization or further surgical intervention. 3. Discussion Scimitar syndrome is a rare congenital heart disease first repor ...
Rett syndrome: clinical correlates of the newly discovered gene
... learning disability. In males, typical RS profiles have been identified in at least two boys with Klinefelter syndrome [12,13]. Other males have also been described. These include (1) severe X-linked mental retardation and progressive spasticity in two boys in one family [16], (2) a Rett-like phenot ...
... learning disability. In males, typical RS profiles have been identified in at least two boys with Klinefelter syndrome [12,13]. Other males have also been described. These include (1) severe X-linked mental retardation and progressive spasticity in two boys in one family [16], (2) a Rett-like phenot ...
Nosology of Deafness - American Academy of Audiology
... genes for hearing loss, one recessive gene from each parent to produce the disorder. The mutant gene must be present in a double dose for abnormal characteristics to present. The term recessive applies only to homozygous (a condition having similar genetic patterns at both alleles) expressed traits ...
... genes for hearing loss, one recessive gene from each parent to produce the disorder. The mutant gene must be present in a double dose for abnormal characteristics to present. The term recessive applies only to homozygous (a condition having similar genetic patterns at both alleles) expressed traits ...
XYY Syndrome - Society for the Study of Behavioural Phenotypes
... Physical features and natural history Physical phenotypic differences associated with XYY syndrome are usually mild . Hypertelorism, macrodontia, pes planus , central adiposity, clinodacty have been described (Bardsley,2014, Lalatta,2012). Speech delay is common. Delayed development of motor skills ...
... Physical features and natural history Physical phenotypic differences associated with XYY syndrome are usually mild . Hypertelorism, macrodontia, pes planus , central adiposity, clinodacty have been described (Bardsley,2014, Lalatta,2012). Speech delay is common. Delayed development of motor skills ...
Gynecologic and obstetric implications of the joint hypermobility
... disturbances with irregularity and meno/metrorrhagias. Dysmenorrhea was the most relevant feature, being observed in >80% patients with a mean intensity of 8/10, corresponding to severe pain. Pelvic pain was also complicated by dyspareunia and/or vulvodinia in nearly 1/3 of the cases. The mechanism ...
... disturbances with irregularity and meno/metrorrhagias. Dysmenorrhea was the most relevant feature, being observed in >80% patients with a mean intensity of 8/10, corresponding to severe pain. Pelvic pain was also complicated by dyspareunia and/or vulvodinia in nearly 1/3 of the cases. The mechanism ...
Case Report Jadassohn-Lewandowsky syndrome: A rare
... Jackson- Lawler PC type 2 (PC-2). Pachyonychia congenita tarda, another variant, characterized by a later onset ranging from late childhood to middle age has been described.5 ...
... Jackson- Lawler PC type 2 (PC-2). Pachyonychia congenita tarda, another variant, characterized by a later onset ranging from late childhood to middle age has been described.5 ...
Case Report Clinical Expression of an Inherited Unbalanced
... major clinical problem since childhood. She did not have a single miscarriage so far, and she was able to achieve a pregnancy immediately after marriage with no medical intervention. However, any balanced translocation requires at least one chromosome break on each participating chromosome which mig ...
... major clinical problem since childhood. She did not have a single miscarriage so far, and she was able to achieve a pregnancy immediately after marriage with no medical intervention. However, any balanced translocation requires at least one chromosome break on each participating chromosome which mig ...
Genetic of PWS – Explanation for the Rest of Us - Prader
... In this less common form of PWS, the baby inherits both copies of chromosome 15 from one parent—the mother. (Maternal means mother; uniparental means one parent; and disomy means two chromosome bodies). In these cases, the developing baby usually starts out with three copies of chromosome 15 (a cond ...
... In this less common form of PWS, the baby inherits both copies of chromosome 15 from one parent—the mother. (Maternal means mother; uniparental means one parent; and disomy means two chromosome bodies). In these cases, the developing baby usually starts out with three copies of chromosome 15 (a cond ...
An unusual case of a bicuspid aortic valve and non compaction of
... resulting from singlegene defect begs the question of whether this concept could be the underlying cause of LVNC. Although the pathogenesis of myocardial hypertrabeculations is thought to be polygenic in nature, there may be a common signaling pathway defect like Notch or ADAMTS9 that interferes wit ...
... resulting from singlegene defect begs the question of whether this concept could be the underlying cause of LVNC. Although the pathogenesis of myocardial hypertrabeculations is thought to be polygenic in nature, there may be a common signaling pathway defect like Notch or ADAMTS9 that interferes wit ...
Sick Sinus Syndrome: 21 Years Follow-Up
... commoner in older age groups but also occurs in young, and both sexes are equally affected. SSS may manifest as sinus bradycardia or sinus arrest. Chronic atrial fibrillation may replace ceased sinus rhythm and ventricular rate may also be slow. Lone artial fibrillation, without cardiac abnormality ...
... commoner in older age groups but also occurs in young, and both sexes are equally affected. SSS may manifest as sinus bradycardia or sinus arrest. Chronic atrial fibrillation may replace ceased sinus rhythm and ventricular rate may also be slow. Lone artial fibrillation, without cardiac abnormality ...
Guide to Marfan syndrome
... time this gene is inherited from a parent who is also affected. However, about 25% of the cases occur when the abnormal gene appears in an egg or sperm (a spontaneous “new” mutation) producing an affected child from two unaffected parents. Marfan syndrome is inherited as an “autosomal dominant” cond ...
... time this gene is inherited from a parent who is also affected. However, about 25% of the cases occur when the abnormal gene appears in an egg or sperm (a spontaneous “new” mutation) producing an affected child from two unaffected parents. Marfan syndrome is inherited as an “autosomal dominant” cond ...
LP 6 Chromosome abnormalities
... and impaired speech. Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. Other conditions, such as Beckwith-Wiedemann syndrome (a disorder characterized by accelerated growth and an increased risk of cancerous tumors), are asso ...
... and impaired speech. Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. Other conditions, such as Beckwith-Wiedemann syndrome (a disorder characterized by accelerated growth and an increased risk of cancerous tumors), are asso ...
How imprinting is relevant to human disease - Development
... a conception occurred with trisomy 7 which then predisposed to the loss of one copy of chromosome 7 since, without such a loss, trisomy 7 would result in intrauterine lethality. If the first aneuploid event producing a gamete with two copies of chromosome 7 was in the first meiotic division, then he ...
... a conception occurred with trisomy 7 which then predisposed to the loss of one copy of chromosome 7 since, without such a loss, trisomy 7 would result in intrauterine lethality. If the first aneuploid event producing a gamete with two copies of chromosome 7 was in the first meiotic division, then he ...
BASIC CARDIAC DEFECTS - Ohio Association of Physician Assistants
... Incidence: 0.1% to 0.3% of population Gender ratio: male to female 2:1 Pre-excitation ...
... Incidence: 0.1% to 0.3% of population Gender ratio: male to female 2:1 Pre-excitation ...
PDF - Circulation
... bpm, a PR interval of 200 ms, a QRS interval of 95 ms (with a slightly rightward axis), and a QT interval of 535 ms (QTc 534 ms). The latter notably demonstrates a marked delay of the T wave inscription (a long ST segment) with normal T wave width and only minor if any abnormalities in T wave morpho ...
... bpm, a PR interval of 200 ms, a QRS interval of 95 ms (with a slightly rightward axis), and a QT interval of 535 ms (QTc 534 ms). The latter notably demonstrates a marked delay of the T wave inscription (a long ST segment) with normal T wave width and only minor if any abnormalities in T wave morpho ...
DiGeorge syndrome
DiGeorge syndrome is also known as 22q11.2 deletion syndrome,DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF) or Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia. This syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name ""22q11.2 deletion syndrome (22q11.2DS)"" be used.22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.