Volume-dependent superior vena cava syndrome related to stenosis
... also complications of central lines.25–28 When central venous catheters are used for parenteral nutrition, the development of SVC syndrome has been associated with sepsis in approximately 40% of cases, and both these conditions increase the mortality associated with home parenteral nutrition and mus ...
... also complications of central lines.25–28 When central venous catheters are used for parenteral nutrition, the development of SVC syndrome has been associated with sepsis in approximately 40% of cases, and both these conditions increase the mortality associated with home parenteral nutrition and mus ...
Cytogenetics
... Results from errors in division during meiosis, where a daughter cell receives both pairs of a particular chromosome (nondisjunction errors). Addition of an extra chromosome, trisomy, has been described for all the chromosomes but only three autosomal trisomies survive to birth. Those are trisomies ...
... Results from errors in division during meiosis, where a daughter cell receives both pairs of a particular chromosome (nondisjunction errors). Addition of an extra chromosome, trisomy, has been described for all the chromosomes but only three autosomal trisomies survive to birth. Those are trisomies ...
The New England Journal of Medicine Volume 343 - hem
... interval was longer in the 12q-trisomy group (33 months) and the normal-karyotype group (49 months), and it was the longest by far in the 13q-deletion group (92 months). In the last group, nearly one third of the patients did not require therapy. ...
... interval was longer in the 12q-trisomy group (33 months) and the normal-karyotype group (49 months), and it was the longest by far in the 13q-deletion group (92 months). In the last group, nearly one third of the patients did not require therapy. ...
Pleural effusions in an overlap ... hypereosinophilic syndrome and erythema
... in addition, prominent pleural effusions and characteristic skin lesions. About 20% of patients with HES have pleural effusions [7]. These are generally secondary to congestive heart failure due to cardiac dysfunction, the main cause of morbidity and mortality in HES [8, 9]. Eosinophilic cardiomyopa ...
... in addition, prominent pleural effusions and characteristic skin lesions. About 20% of patients with HES have pleural effusions [7]. These are generally secondary to congestive heart failure due to cardiac dysfunction, the main cause of morbidity and mortality in HES [8, 9]. Eosinophilic cardiomyopa ...
as a PDF
... of spermatogenesis. Successful sperm retrieval procedures are reported in 16% to 49% of nonmosaic Klinefelter men,(13-16) and this rate is higher in mosaic patients.(17) Contradictory results have been reported on predictor factors of successful testicular sperm extraction (TESE) in Klinefelter pati ...
... of spermatogenesis. Successful sperm retrieval procedures are reported in 16% to 49% of nonmosaic Klinefelter men,(13-16) and this rate is higher in mosaic patients.(17) Contradictory results have been reported on predictor factors of successful testicular sperm extraction (TESE) in Klinefelter pati ...
Metabolic syndrome: pharmacological treatment
... in detail with the metabolic, and in particular the diabetogenic, actions of various groups of antihypertensive agents. In this connection, ‘older’ and ‘modern’ antihypertensive drugs were distinguished. Thiazide diuretics and b-blockers were classified as the ‘older’ antihypertensive agents, wherea ...
... in detail with the metabolic, and in particular the diabetogenic, actions of various groups of antihypertensive agents. In this connection, ‘older’ and ‘modern’ antihypertensive drugs were distinguished. Thiazide diuretics and b-blockers were classified as the ‘older’ antihypertensive agents, wherea ...
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal
... or different related ones depending on the developmental context. Considering midline craniofacial development, in known syndromes, most important involved genes are the SHH, TGIF, GLI2, TBX22, ZIC2, SIX3, TDGF1, among others [27; 28; 29; 30; 31; 32]. TGIF mutations in humans affect brain developmen ...
... or different related ones depending on the developmental context. Considering midline craniofacial development, in known syndromes, most important involved genes are the SHH, TGIF, GLI2, TBX22, ZIC2, SIX3, TDGF1, among others [27; 28; 29; 30; 31; 32]. TGIF mutations in humans affect brain developmen ...
Non-syndromic progressive hearing loss DFNA38 is caused by
... and deletion of the entire gene have been described in patients (2–4,8,10,12,21). With the exception of a single allele shared by most affected Spanish families (10), mutations are specific to one or a few families. At least 19 missense alleles have been identified in Wolfram patients, most of them ...
... and deletion of the entire gene have been described in patients (2–4,8,10,12,21). With the exception of a single allele shared by most affected Spanish families (10), mutations are specific to one or a few families. At least 19 missense alleles have been identified in Wolfram patients, most of them ...
More Than Skin Deep: Genetics, Clinical Manifestations, and Diagnosis of Albinism
... such as nystagmus and reduced visual acuity, are often subtle and initially missed. In oculocutaneous albinism, there is wide phenotypic variability, which correlates with specific mutations in genes with roles in melanin biosynthesis. Additionally, syndromic forms of albinism such as Hermansky-Pudl ...
... such as nystagmus and reduced visual acuity, are often subtle and initially missed. In oculocutaneous albinism, there is wide phenotypic variability, which correlates with specific mutations in genes with roles in melanin biosynthesis. Additionally, syndromic forms of albinism such as Hermansky-Pudl ...
A GUIDE FOR PARENTS
... experience something quite different. The noise of the paper will be an incentive for him to move. Sounds are the baby’s reward. ■ Forget about the baby’s comfort now and then. Put him too near the foot-end of the cot. He may want to push against it. Place the baby on his tummy and hold some bright, ...
... experience something quite different. The noise of the paper will be an incentive for him to move. Sounds are the baby’s reward. ■ Forget about the baby’s comfort now and then. Put him too near the foot-end of the cot. He may want to push against it. Place the baby on his tummy and hold some bright, ...
Autism spectrum disorder in Phelan
... implicated in the etiology of ASD [1]. Though it seems that the genetic contribution to ASD is complex, accumulating evidence suggests that the risk genes ultimately converge on a relatively small set of molecular pathways, including those critical for synaptic development and plasticity [2]. One su ...
... implicated in the etiology of ASD [1]. Though it seems that the genetic contribution to ASD is complex, accumulating evidence suggests that the risk genes ultimately converge on a relatively small set of molecular pathways, including those critical for synaptic development and plasticity [2]. One su ...
Medical Management of KS Part 2
... means to have Kabuki syndrome since it was first terms cognitive disability and intellectual disability are described in 1981. Studies and their resulting published articles have given us objective data, helping used interchangeably. ‘Developmental delay’ is a term to decipher what is typical for th ...
... means to have Kabuki syndrome since it was first terms cognitive disability and intellectual disability are described in 1981. Studies and their resulting published articles have given us objective data, helping used interchangeably. ‘Developmental delay’ is a term to decipher what is typical for th ...
Transient Prolongation of QT Interval in a Neonate
... In one study, a neonate who had presented with a sustained irregular heart rate during labor was found to have QT prolongation and repetitive polymorphic ventricular arrhythmias [12]. Sinus bradycardia in an otherwise normal fetus may be a symptom of long QT syndrome. With prolonged QT syndrome, ear ...
... In one study, a neonate who had presented with a sustained irregular heart rate during labor was found to have QT prolongation and repetitive polymorphic ventricular arrhythmias [12]. Sinus bradycardia in an otherwise normal fetus may be a symptom of long QT syndrome. With prolonged QT syndrome, ear ...
Transient Left Bundle Branch Block: An Unusual Electrocardiogram
... evidence of acute plaque rupture; (3) new ECG abnormalities (ST-segment elevation and/or T-wave inversion); and (4) absence of pheochromocytoma or myocarditis. Due to its clinical characteristics, TTC is frequently misdiagnosed as acute coronary syndrome (ACS), or myocarditis. Since the ECG and symp ...
... evidence of acute plaque rupture; (3) new ECG abnormalities (ST-segment elevation and/or T-wave inversion); and (4) absence of pheochromocytoma or myocarditis. Due to its clinical characteristics, TTC is frequently misdiagnosed as acute coronary syndrome (ACS), or myocarditis. Since the ECG and symp ...
Brugada Syndrome
... better prognosis because of the negative flecainide test and negative PES.10 Other investigators think flecainide and PES are not so reliable.13 Therefore, can one assume that individuals with ICCD, negative flecainide test, and negative PES are at lower risk? We must accept that the specific phenot ...
... better prognosis because of the negative flecainide test and negative PES.10 Other investigators think flecainide and PES are not so reliable.13 Therefore, can one assume that individuals with ICCD, negative flecainide test, and negative PES are at lower risk? We must accept that the specific phenot ...
Document
... trisomy-21: Down syndrome XO (no Y): Turner syndrome; primarily female; only viable human monosomic XXY: Klinefelter syndrome; primarily male ...
... trisomy-21: Down syndrome XO (no Y): Turner syndrome; primarily female; only viable human monosomic XXY: Klinefelter syndrome; primarily male ...
CHROMOSOMES AND DISEASE
... called a somatic or acquired abnormality. The latter can lead to a mosaic individual (one who possesses two or more genetically different cell lines derived from a single zygote). -Numerical abnormalities: There can be extra copies of the autosomes or the sex chromosomes. Aneuploidy represents an ab ...
... called a somatic or acquired abnormality. The latter can lead to a mosaic individual (one who possesses two or more genetically different cell lines derived from a single zygote). -Numerical abnormalities: There can be extra copies of the autosomes or the sex chromosomes. Aneuploidy represents an ab ...
PowerPoint-presentatie
... Molecular mechanisms for constitutional chromosomal rearrangements in humans Williams-Beuren syndrome • deletion of the elastin gene, responsable for supravalvular aortic stenosis • ~1.6 Mb deletion at 7q11.23 • heart defects, facial dysmorphy, ...
... Molecular mechanisms for constitutional chromosomal rearrangements in humans Williams-Beuren syndrome • deletion of the elastin gene, responsable for supravalvular aortic stenosis • ~1.6 Mb deletion at 7q11.23 • heart defects, facial dysmorphy, ...
Pediatric emergency case conference
... Circulation- hypotension, heart failure, signs of shock,. Signs in infants- irritability, tachypnea, and poor feeding. ...
... Circulation- hypotension, heart failure, signs of shock,. Signs in infants- irritability, tachypnea, and poor feeding. ...
First report of pentalogy of Cantrell in a calf: a case report
... Chromosomal abnormalities have also been associated with the syndrome (Carmi and Boughman, 1992). Less than 90 cases have been reported in the literature in humans, and even fewer have had the complete syndrome confirmed. Only four of the 90 cases involved twins and only two of them described discor ...
... Chromosomal abnormalities have also been associated with the syndrome (Carmi and Boughman, 1992). Less than 90 cases have been reported in the literature in humans, and even fewer have had the complete syndrome confirmed. Only four of the 90 cases involved twins and only two of them described discor ...
A mosaic infertile case of isodicentricY
... sign for Y chromosome. FISH analysis for SHOX region was used for conformation structural integrity towards any aberration p arm of Y chromosome and determination of double signals for SRY (Figure 1B). The QF-PCR analysis was made for the identification of SRY gene and Amelogenin duplication on the ...
... sign for Y chromosome. FISH analysis for SHOX region was used for conformation structural integrity towards any aberration p arm of Y chromosome and determination of double signals for SRY (Figure 1B). The QF-PCR analysis was made for the identification of SRY gene and Amelogenin duplication on the ...
Secondary deformity following lateral closing wedge
... Madelung deformity Growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist ...
... Madelung deformity Growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist ...
演題申込書 - 第10回日本―中国合同皮膚科学術会議
... Department of Dermatology, Ehime University Graduate School of Medical Science, Ehime, Japan Introduction: Capillary Leak Syndrome was first described in 1960 by Clarkson et al and characterized by chronic recurrent episodes of a triad of hypotension, hypoalbuminemia and hemoconcentration. It is cau ...
... Department of Dermatology, Ehime University Graduate School of Medical Science, Ehime, Japan Introduction: Capillary Leak Syndrome was first described in 1960 by Clarkson et al and characterized by chronic recurrent episodes of a triad of hypotension, hypoalbuminemia and hemoconcentration. It is cau ...
Journal of Medical Genetics: Large
... In the present study, we have identified CACNA1A rearrangements in 8 patients. Although, we have not undertaken fine mapping of these rearrangements to assess which predict translational frameshift, a number of points indicate they are likely to be pathogenic, not least their absence in a panel of ...
... In the present study, we have identified CACNA1A rearrangements in 8 patients. Although, we have not undertaken fine mapping of these rearrangements to assess which predict translational frameshift, a number of points indicate they are likely to be pathogenic, not least their absence in a panel of ...
Chapter 1 Introduction
... G-banding is widely used for clinical diagnostics and genomic research. However, over the past 30 years the development of new techniques with increasingly higher resolution has led to the new field of molecular cytogenetics. 1.2 History of Cytogenetics The field of human cytogenetics emerged in 187 ...
... G-banding is widely used for clinical diagnostics and genomic research. However, over the past 30 years the development of new techniques with increasingly higher resolution has led to the new field of molecular cytogenetics. 1.2 History of Cytogenetics The field of human cytogenetics emerged in 187 ...
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.