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Handbook of Abiogenetic Counseling Velopharyngeal Blemish (VPI)

 Velopharyngeal Blemish (VPI)***Airflow measures*Endoscopy**Allows decision of valving apparatus during speech**Pass adjustable tube through nasal passages*Multiview videofluoroscopy**For accouchement too adolescent for endoscopy**May crave barium for contrast*Nonsurgical**Mild VPI cases**Speech analysis to advance delivery and strengthen cease patterns**Prosthetic devices***For patients who cannot abide anaplasty or are not helped by again surgeries***Obturator (dental prosthesis) that extendsinto velopharyngeal amplitude and closes valve if pharyngeal walls move inward***Palatal lift lifts bendable aficionado into position so that velum is abutting to pharyngeal walls if palatal motion is not sufficient*Surgical**Recommended if possible**Usually performed about 4-5 years old**To anticipate aberrant arising of air through adulterated valve**Pharyngeal flap***Create accessory of close film and beef from aback of throat to bendable palate***Small openings abide on either ancillary to acq... Read More by user

Handbook of Abiogenetic Counseling Turner Syndrome-2

 Turner Syndrome(Assess compassionate throughout discussion)*Do you accept family/friends in the area?*Provide hope…discuss ancestors planning options….no decreased lifespan…a lot of the medical problems associated with TS, we understand that you do not have.*Im traveling to alarm you tomorrow afternoon, is that ok?*I accept appointed an arrangement to accommodated next week. Will your fiance be aback in town?*I will agenda accessories for you to accept testing done and will acquaint you with those dates.**These are not burning tests that accept to be done tomorrow. You accept lived 27 years with Turner syndrome. Annihilation has changed, except that now you understand why you accept abbreviate ability and havent amorphous menstruating.*Patient actuality area information: (print off archetype for patient)*http://www.endo-society.org*http://www.turner-syndrome-us.org*Provides advice on the medical facts of Turner syndrome, associates alone website area there are babble rooms, bulletin bo... Read More by user

Handbook of Abiogenetic Counseling Tuberous Sclerosis-2

 Tuberous SclerosisThe tumors are not cancerous!*We still cannot adumbrate the severity of concrete affection in a being with a new analysis of TSC.*A being can accept TSC and accept actual few or balmy symptoms, while a ancestors affiliate with TSC can accept added astringent or extensive*In alotof individuals, the ache affects alone some of these organs.*The severity of TSC can ambit from balmy derma abnormalities to, in astringent cases, brainy amentia or renal failure.*Many TSC manifestations aswell advance after in life.*Most individuals who are agilely afflicted by TSC advance alive and advantageous lives*Echocardiogram can appearance rhabdomyomas, the alotof accepted primary cardiac bump of tuberous sclerosis circuitous (TSC) in adolescence and childhood.*The accident of these tumors in TSC has been appear to alter from 47 percent to 67 percent.*Childhood bump corruption is the rule. In additional words, in alotof cases, cardiac tumors are their better at bearing and may compress... Read More by user

Handbook of Abiogenetic Counseling Tuberous Sclerosis

 Tuberous Sclerosis**Children should accept EKG to analysis for these problems*Lung**Lymphangioleiomyomatosis of lung (1-6%)***Degenerative cystic ache of lung***May advance to respiratory abortion or death**Primarily affects women amid ages of 20 and 40 years*Eye (75%)**Hamartomas or achromatic (hypopigmented regions)**Rarely couldcause eyes accident or problems**Opthalmoscopy with pupils aggrandized may advice analyze TS in children*Liver, pancreas, and additional organs may advance amiable cysts after in life*Pits in both babyish and developed teeth (90%)*Diagnosis based on analytic findings**Three classes***Definite TSC - 2 above appearance or 1 above additional 2 accessory features***Probably TSC - 1 above affection additional 1 accessory feature***Possible TSC - 1 above affection or 2 or added accessory features**Many of allegation are all-embracing and may be abandoned or associated with additional syndromes**Major features***Facial angiofibromas or forehead plaque***Non-traumati... Read More by user

Abstruse algebra Accumulation tables

 Here is the accumulation table for the alone accumulation of adjustment 2Here is the accumulation table for the alone accumulation of adjustment 3Here are the accumulation tables for the alone groups of adjustment 4||| align=center colspan=3||-| colspan=7 | To see added acutely that these two tables infact accept the same|-| colspan=7 | accumulation anatomy youll charge to rename the entries|-|      | style=background:gray;color:white; align=center |0||       || maps to ||       || style=background:gray; color:#ffdead align=center |1 ||     |-| | style=background:gray;color:white; align=center |1|| || maps to || || style=background:gray; color:#ffdead align=center |2 |||-|| style=background:gray;color:white; align=center |2|| || maps to || || style=background:gray; color:#ffdead align=center |4 |||-|| style=background:gray;color:white; align=center |3|| || maps to || || style=background:... Read More by user

Handbook of Abiogenetic Counseling Trisomy 18

 Trisomy 18*****80% of ONTD*****60% Down Syndrome*Clinical picture**Can couldcause affection problems, branch problems and additional bloom issues**Usually baleful aural first year of life**Children that survive accept astringent brainy retardation*Increased accident for abundance loss*Ultrasound**Confirm gestational age or analyze assorted fetuses to advice adapt amateur awning results**Can ascertain some above bearing defects - aphorism out 95% of NTDs if decision is not limited**Many fetuses with Trisomy 18 accept assertive markers that can be articular on ultrasound***Growth retardation***Single umbilical artery***Heart problems***Polyhydramnios**Cant analyze chromosomal abnormalities*Amniocentesis**Performed afterwards 15 weeks**Diagnostic analysis for some conditions***99.7% accurateness for fetal chromosome analysis***Detects 96% of accessible neural tube defects by testing AFAFP***Cannot ascertain all bearing defects or brainy retardation**Risk of abundance accident due to actio... Read More by user
Tags: abdomen, counseling, birth, defects

Handbook of Abiogenetic Counseling Trisomy 13 - Avant-garde Affectionate Age - Anatomic Exposures

 Trisomy 13 - Avant-garde Affectionate Age - Anatomic Exposures***Skeletal****Thin after or missing ribs****Simian crease****Flexion of the fingers****Camptodactyly****Polydactyly**Organ Malformations***Central Afraid System****Severe brainy retardation****Holoprosencephaly (lack of the septation of the forebrain)****Apnea****Seizures***Cardiovascular****Coarctation, ASD, PDA, VSD, dextroposition***Gastrointestinal****Inguinal or umbilical hernia****Omphalocele***Genitourinary****Polycystic kidneys****Males: cryptorchidism, aberrant scrotum, cryptic genitalia****Females: bicornuate uterus*Etiology***Occurs in 75% of cases***Due to meiotic nondisjunction**Translocation***20% of cases***May be de novo or familial**Mosaicism***5% of cases***Due to postzygotic mitotic nondisjunction***Usually beneath astringent than abounding trisomy 13, but is variable*Incidence**1/5000 - 1/12,000 reside births**AMA is a accident factor**The prevalence of asymmetric chromosomal aberancy in the accomplished... Read More by user

Amusing sciences bookshelf

 The amusing sciences are a accumulation of bookish disciplines that abstraction the animal aspects of the world. They bend from the and in that the amusing sciences accent the use of the accurate adjustment and accurate standards of affirmation in the abstraction of humanity.__TOC__Anthropology is the abstraction of animal cultures of the accomplished and the present. It incorporates some additional accurate disciplines such as biology, geography, story and psychology. There are four capital categories of anthropology as listed below:: See for science topics.: See for biking guides.: See for added topics.:: See for capacity accompanying to Australia.:: See for capacity accompanying to India.Geography courses:Science-related Books:Regional books:Sociology can be subdivided into the afterward courses:... Read More by user
Tags: related, study, social

Handbook of Abiogenetic Counseling Treacher Collins

 Treacher Collins**Screening for audition loss***Intervention to acquiesce bigger bookish performance**Plastic anaplasty for baby chin, broken palate, and additional defects**Complications***Feeding difficulty***Speaking difficulty***Communication problems***Vision problems***Cosmetic actualization can couldcause additional humans to anticipate the problem is worse than it is*Prognosis**Children with Treacher-Collins abound to become commonly activity adults of accustomed intelligence.**Careful absorption to any audition problems helps ensure bigger achievement in school.**Johns Hopkins Hospital Baltimore, MD:Contact: Barbara Karczeski, MS:email: bkarczes@jhmi.edu:phone: (410) 955-0483:fax: (410) 955-0484*CellsaChromosomesaGenes**Chromosome location: 5*AD inheritance**50% adventitious of casual gene one**40-50% of mutations are de novo*Treacher Collins Foundation:P.O. Box 683:Norwich, Vermont 05055:1-800-823-2055:www.treachercollinsfnd.org*Treacher Collins Ancestors Abutment Accumulatio... Read More by user

Handbook of Abiogenetic Counseling Tay-Sachs Ache

 Tay-Sachs Disease*As the accommodating becomes added disabled, acceptable bowel administration is important*Older patients with the adult-onset anatomy may charge antidepressants or antipsychotic therapy*Enzyme and gene therapy:**Attempts accept been unsuccessful**Infusions and cartilage bottom transpantation accept had no benefit**CNS agitator backup are in the beginning date at this time*Activator amiss TSD**The enzymatic action of both HEX A and HEX B is normal**GM2 ganglioside accession occurs due to a arrears of the intralysosomal glycoprotein GM2 activator that is appropriate for the abasement of GM2 ganglioside.**The phenotype is identical to TSD*The blooming red atom of the fovea centralis of the birthmark of the retina is apparent during the first year of activity in patients with Gaucher disease, GM1 gangliosidosis, galactosialidosis, Niemann-Pick blazon A, and Sandhoff disease*Neurologic corruption during the first 6 months of activity is apparent in some disorders including... Read More by user
Tags: disease, diseases, jewish

Handbook of Abiogenetic Counseling Tamoxifen - Careful Estrogen Acknowledgment Modifiers (SERMS)

 Tamoxifen - Careful Estrogen Acknowledgment Modifiers (SERMS)Risk Abridgement Agents for Breast Cancer****41% of women in the abstraction accustomed HRT which is a abeyant abashing factor***Results****At 70 months chase up, no aberration in the accident of breast blight was seen**Italian Randomized Balloon of Breast Blight Blockage in Hysterectomized Women***In 1992, this balloon of tamoxifen (20mg circadian for 5 years) against placebo began***Ended in 1997 with 5408 women with low to accustomed accident of breast cancer****The ambition was to recruit 20,000 women****Half of the women recruited had already had an oophorectomy, which is accepted to abate the accident of breast cancer, so alone 3986 were accessible for evaluation***Eligibility: Advantageous women age 35-70 who had a hysterectomy***Results: At average of 46 months chase up, there was no aberration in the amount of breast blight cases in analysis against ascendancy arms.**How do we explain the alterity of the 3 trials?***... Read More by user

Handbook of Abiogenetic Counseling Stickler Affection

 Stickler Syndrome*COL2A1 gene (cause in 75% of families)**Typically accept blazon 1 brittle aberration and a top accident for retinal detachment, accustomed audition or balmy SNHL, and early-onset arthritis.*COL11A1**Typically accept blazon 2 brittle aberration and added astringent audition loss*COL11A2**Causes anocular Stickler syn because protein is not bidding in the eye -a.k.a oto-spondylo-megaepiphyseal dysplasia (OSMED).*Clinical testing accessible for COL2A1 and COL11A1**Tulane University Bloom Sciences CenterMatrix DNA Affection Class New Orleans, LA**email:jhyland@tulane.edu phone: (504) 988-7061 fax: (504) 988-7704**co-Contact: Charlene Crain, MBA, BS**email:ccrain@tulane.edu phone: (504) 988-7706 fax: (504) 988-7704**Methodology: Absolute DNA*Research testing may be accessible for COL11A2 and mutations in alien loci*Geneclinics*Option of prenatal testing exists for fetuses at 50% accident for Stickler affection if a alteration in COL2A1 or COL11A1 has been articular in the a... Read More by user

Handbook of Abiogenetic Counseling Sotos Affection

 Sotos Syndrome(thought to be rare)(rare, but may action in about 2-4% of individuals with Sotos syndrome)*How is absorption and behavior?*Assess amusing relationships (is she getting teased or socially isolated)*Any changes in the family?*Confirm amount of siblings*Number of additional ambiguous overgrowth syndromes*Sotos affection is acclaimed from others by attendance of adorning adjournment and appropriate facial features.*Other overgrowth syndromes accept additional frequently associated characteristics that aswell aid in distinction*Soto Affection Abutment Association:http://www.well.com/user/sssa/ -- website is actual adapted and contains acceptable authentic information:Three Danada Aboveboard East, #235:Wheaton, IL 60187*Genetests and advice from Chicago about NSD1 testing*Soto Affection Abutment Association*Sotos Syndrome: A Handbook for Families by Rebecca Rae Anderson, M.S., J.D. and Bruce A. Buehler, M.D.*Kurotaki et al., Haploinsufficiency of NSD1 causes Sotos affection (2... Read More by user

Handbook of Abiogenetic Counseling Smith-Lemli-Opitz Affection

 Smith-Lemli-Opitz Syndrome*Gastrointestinal*Surgical barometer and accepted analysis for anniversary specific condition*Genitourinary*Ultrasound of urinary amplitude at diagnosis*Treatment is abased aloft the action identified*Repair of hypospadias*Observe boys with cryptorchidism to see if ad-lib coast occurs*Determine chromosomal sex if cryptic genetalia is present.*Musculoskeletal*Simple abatement of extra digits*Skin*Cholesterol analysis has been appear to couldcause a abatement in photosensitivity and derma rashes.*Limit breadth of sun acknowledgment to abstain sun photosensitivity*Chromosomal abnormalities including Trisomy 18 (Growth deficiency, broken palate, and DD) and Trisomy 13 (Growth retardation, polydactyly, and DD)*Noonan affection (short stature, DD, cardiac defects, cryptorchidism)*Smith-Lemli-Opitz/RSH Foundation:P.O. Box 212:Georgetown, MA 01833:(978) 352-5885:Contact person: Cynthia Gold:email: info@smithlemliopitz.org:http://www.smithlemliopitz.org*Cunniff C, Affi... Read More by user
Tags: counseling, syndrome

Handbook of Abiogenetic Counseling Septo-optic dysplasia

 Septo-optic dysplasia(follow form)*Dependent on whether it is a desultory case or a alteration is present*Few accurate letters of afflicted siblings*Testing was accessible on a analysis base for the HESX1 gene as of first allotment of Nov. 2001, but we would charge to acquaintance the researcher to see if they are still analytic for mutations (researcher is in UK).*May be a lot of new advice and it is not simple*We accept some accounting advice that you can apprehend through if you would like*May affliction not accepting analysis earlier*May feel that added could accept been done if it was diagnosed earlier*What are affairs for her in the future*Will she reside at home or in a accumulation home*Is she affiliated with anyone who can advice her with a job adjustment if academy is done*Focus Families - ancestor support:www.focusfamilies.org*The Abracadabra Foundation for Childrens Growth:www.magicfoundation.org/sodp.html*Hormone Abnormalities in SOD: A Advertence Guide:Mary J. Sarrantonio... Read More by user

Handbook of Abiogenetic Counseling Access Medications

 Access Medications(3 generations)*Clearance increases during abundance so doses may charge adjustment*Series of 125 breed exposed, 17 (12%) had complete anomalies*Several additional letters appearance a 2-3 times as abundant of accident for bearing defects as in the accepted citizenry (this is agnate to letters of accouchement built-in to women advised with additional anticonvulsants)*Study with controls who had atomic acknowledgment to ethanol**Found malformations in 18% of babies apparent to Carbitrol during pregnancy**Hypoplastic fingernails, abbreviate nose, continued philtrum, upslanting palpebral fissures, distal agenda hypoplasia and microcephaly**But above bearing defects not increased**20% of apparent were begin to accept adorning adjournment (5 of 25 offspring)***problems with the architecture though*may be ashamed by SES cachet or affectionate IQ*used alone one accepted aberration as the cut off rather than two*Other studies abort to appearance any cogent furnishings of pren... Read More by user
Tags: women, times, children, breast, studies, medications, counseling, pregnancy, recommended, birth, defects

Handbook of Abiogenetic Counseling Ring Chromosome 22

 Ring Chromosome 22Supernumary ring chromosomes*supernumerary ring chromosomes generally gradually abandon in vivo and alone beef with accustomed karyotype are eventually empiric (Michalski K et al 1993 cited Hoo et al 1980)*not actual some letters makes it difficult to adumbrate cast or accommodate empiric accident data*supernumerary brand chromosomes are added accepted than extra rings occurring in 1 in 1,500 to 1 in 500 for a (Michalski K et al 1993 extrapolated this from assorted studies from 1984-1990)*the after-effects will be agnate to fractional trisomies or duplications*Different characteristics depending on:*which chromosome is involved*the position of breakpoints aural the chromosome.*patients with added rings do not alone affectation assorted affection consistent from deletions or duplications*In a meta-study including added than two-hundred patients with complete ring chromosomes it has been approved that the majority of accouchement with rings appearance a abortion to adva... Read More by user

Handbook of Abiogenetic Counseling Rett Affection

 Rett Syndrome**Osteoporosis is problem, possibly due to poor cartilage accumulation - after-effects in fractures*Stage IV (late motor abasement stage)**Can endure for years or decades**Characterized by bargain mobility***Muscle weakness, acerbity (stiffness), spasticity, dystonia (increased beef accent with aberrant assuming of acme or trunk), and scoliosis***Girls may stop walking***Generally no abatement in cognition, communication, or duke skills***Repetitive duke movements may decrease***Eye boring usually improves*Girls about survive into adulthood**Incidence of sudden, alien afterlife decidedly higher**May be due to bargain affection amount airheadedness and acoustic differences*Atypical Rett syndrome**Females accept balmy acquirements affliction or a few women with no affection and skewed X-inactivation**Mutations accept been begin in those ahead diagnosed with autism, balmy acquirements disability, and Angelman syndrome*Males**Males affair analytic phenotype accept been begin w... Read More by user
Tags: information, child, association, family, counseling, learning, syndrome, normal, disability, diagnosis

Handbook of Abiogenetic Counseling Protein S Absence

 Protein S Deficiency(pregnancy loss)*late abundance diffusion added accepted in women with thrombophilia*Individuals with homozygosity for the MTHFR alteration and any additional predisposing agency (protein S deficiency, protein C deficiency, antithrombin III deficiency, the thrombophilic prothrombin mutation, agency V Leiden, or antiphospholipid antibodies), top dosage folate supplementation alpha preconceptually may accept a careful effect.*Those who accept had one or added stillbirths and are begin to accept a thrombophilic alteration (not including MTHFR homozygosity in isolation) heparin and low dosage aspirin may be appropriate*Absent /reduced protein S and accustomed absolute proteins in heterozygote*Protein S antigen testing:*Functional protein S:*Assays for anatomic protein S are difficult to perform, aberrant and are based on assiduity of claret array by the bearing of APC and its function*Several additional factors can adapt the estimation of analysis after-effects falsely ... Read More by user

Handbook of Abiogenetic Counseling Prader-Willi Syndrome-2

 Prader-Willi Syndrome**~40% accept ambiguous MR or low accustomed intelligence**~20% accept abstinent MR**Academic achievement is poor for cerebral ability**Strengths are in reading, abiding memory, and visual-spatial skills**Weaknesses are in math, consecutive processing, and concise memory**Patients generally accept an abnormal accomplishment with jigsaw puzzles and word-find puzzles.*Hypogonadism**Prenatal in access and persists throughout life**At bearing it is axiomatic by animal hypoplasia**Cryptorchidism is present in 90-100% of macho patients**Sexual action is aberrant in both sexes and abundance is attenuate (one case reported)*Early-childhood-onset of obesity**Significant blubber is not begin in adolescent infants**Onset is usually triggered by hyperphagia amid 1-6 years of age, but can action as aboriginal as 6 months**Hyperphagia is due to a hypothalamic aberancy consistent from abridgement of satiety**There is a decreased caloric requirement, accompanying to hypotonia and ... Read More by user

 

 

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