Edvard Smith, Jennifer Puck Oxford University Press, 2007 - 726 من الصفحات The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic [books.google.com]

Spontaneous and allogeneic culture-induced (mixed lymphocyte response-MLR) specific and nonspecific (NK-like) cytotoxic mechanisms were analyzed and correlated with lymphocyte subpopulations present in CHH and normal individuals. [jci.org]

Radiographic findings Skeletal changes were variable but present in all patients. [studyres.com]

Am J Med Genet A. 2005; 138 :35–40. [ PubMed : 16097009 ] Chapter Notes Author History Svetlana (Kostjukovits) Vakkilainen, MD (2015-present) Outi Mäkitie, MD, PhD (2015-present) Christian T Thiel, MD; Friedrich-Alexander Universität (2011-2015) Revision [ncbi.nlm.nih.gov]

The very mild presentation in one of the patients in the present study (MCDS #51) with a single amino acid change in the a1(X) chain (1942G>A; D648N) is more likely to be the result of a dominant negative effect than of haploinsufficiency. [documents.mx]

• Disproportionate Short Stature

  They typically present with disproportionate short stature in childhood, or premature osteoarthrit is in adulthood. [content.iospress.com]

  Disproportionate short-limb short stature MedGen UID: 342370 • Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [ncbi.nlm.nih.gov]

  Patient I at 18 yr of age presenting with severe disproportionate short stature, short extremities, Fig. 1B. The back of patient I demonstrating the scoliosis preoperatively. [documents.tips]

  […] femoral neck Proportionate short stature Bowing of the legs Disproportionate short stature Micrognathia Craniosynostosis Cleft palate Growth delay Muscular hypotonia of the trunk Delayed epiphyseal ossification Intrauterine growth retardation Coxa valga [mendelian.co]

  Individuals presenting with disproportionate short stature will have altered ratios depending on whether they have short limbs, short trunk, or both. [nature.com]

• Short Finger

  Case Report Two children born to a third degree consanguineously married South Indian couple were referred for evaluation of short stature. The elder sibling was a 15-year-old girl with short fingers at birth. [indianpediatrics.net]

  […] anterior fontanel Gingival overgrowth Bowing of the long bones Short phalanx of finger Mitral valve prolapse Delayed eruption of teeth Poor suck Cholelithiasis Broad forehead Short philtrum Wide mouth Joint stiffness Camptodactyly of finger Abnormal [mendelian.co]

  It is an autosomal recessive disorder with marked rhizomelic shortening of the extremities, genu vara, short fingers with marked ligamentous laxity of finger joints. [documents.tips]

  thick tubular bone, with broad metaphyses and flattened, irregular epiphyses; Subluxed patella; [Hands]; Short finger with ulnar deviation; Hitchhiker thumb; [Feet]; Talipes equinovarus SKIN, NAILS, HAIR: [Skin]; Glabellar hemangioma NEUROLOGIC: [Central [genome.jp]

  He has short limbed short stature with short fingers and no obvious hair hypoplasia. RMRP mutations in Schmid metaphyseal chondrodysplasia 743 and mild hyperlaxity at the wrists and fingers. The spine was straight and skull shape was normal. [mafiadoc.com]

• Vomiting

  […] coloboma Retrognathia Broad palm Polydactyly Preaxial hand polydactyly Genu valgum Coma Dolichocephaly Hypohidrosis Dental crowding Hepatitis Tall stature Hepatic failure Sleep disturbance Vesicoureteral reflux Thick eyebrow Hypermetropia Nausea and vomiting [mendelian.co]

  Other symptoms may include vomiting, abdominal pain, diarrhea, and slow growth. Symptoms usually become apparent in the first two months of life. [howlingpixel.com]

• Nausea

  […] polydactyly Retinal coloboma Retrognathia Broad palm Polydactyly Preaxial hand polydactyly Genu valgum Coma Dolichocephaly Hypohidrosis Dental crowding Hepatitis Tall stature Hepatic failure Sleep disturbance Vesicoureteral reflux Thick eyebrow Hypermetropia Nausea [mendelian.co]

• Short Extremities

  Patient I at 18 yr of age presenting with severe disproportionate short stature, short extremities, Fig. 1B. The back of patient I demonstrating the scoliosis preoperatively. [documents.tips]

• Apraxia

  […] asthma-related traits, susceptibility to, 6 MONDO_0012666 Condition Asthma-Related Traits, Susceptibility To, type 6 gait apraxia MONDO_0006766 Condition Gait apraxia (finding) asthma-related traits, susceptibility to, 4 MONDO_0012577 Condition Asthma-Related [clinicalgenome.org]

  Hidrotic ectodermal dysplasia Amniotic constriction ring Hypergranulosis Generalized osteoporosis Ankylosis Anal fissure Fine, reticulate skin pigmentation Parakeratosis Abnormality of movement Mask-like facies Postural tremor Involuntary movements Apraxia [mendelian.co]

• Gait Ataxia

  ataxia Astigmatism Difficulty walking Hypotelorism Accelerated skeletal maturation Scrotal hypoplasia 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Broad femoral neck Frontal bossing Increased intervertebral space Need help with a diagnosis [mendelian.co]

• Akinesia

  […] with gait freezing syndrome MONDO_0016562 Condition PSP-pure akinesia with gait freezing prostate cancer aggressiveness quantitative trait locus on chromosome 19 MONDO_0011863 Condition Prostate Cancer Aggressiveness Quantitative Trait Locus on Chromosome [clinicalgenome.org]

• Gait Apraxia

  […] asthma-related traits, susceptibility to, 6 MONDO_0012666 Condition Asthma-Related Traits, Susceptibility To, type 6 gait apraxia MONDO_0006766 Condition Gait apraxia (finding) asthma-related traits, susceptibility to, 4 MONDO_0012577 Condition Asthma-Related [clinicalgenome.org]

• Increased Bone Density

  Increased Bone Density Generalized increased bone density in children Generalized increased bone density in adults Solitary sclerotic bone lesions Multiple sclerotic bone lesions Osteopenia Regional osteopenia Generalized osteopenia Osteoporosis Bubbly [gentili.net]

  Dysplasias with increased bone density Osteopetrosis a) precocious type b) delayed type c) intermediate type d) with renal tubular acidosis Dysosteosclerosis Pycnodysostosis AR AD AR AR AR AR 8q22 Gene Protein CA2 Carbonic anhydrase I1 MIM References [docksci.com]

Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency [books.google.com]

Res. (2010) [ Pubmed ] Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Makitie, O., Toiviainen-Salo, S., Marttinen, E., Kaitila, I., Sochett, E., Sipila, I. Horm. [wikigenes.org]

Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. [ncbi.nlm.nih.gov]

McKusick type Cartilage Hair Hypoplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis [lpamrs.memberclicks.net]

PMID 9584003 Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. Mäkitie O, Heikkinen M, Kaitila I, Rintala R Journal of pediatric surgery. 2002 ; 37 (11) : 1585-1588. PMID 12407544 DWARFISM IN THE AMISH. II. [atlasgeneticsoncology.org]

The risks and the probably poor longterm prognosis were considered to markedly exceed the possible benefits of a reoperation. [documents.tips]

Non-Hodgkin lymphoma often has a poor prognosis with conventional cytotoxic protocols [ Taskinen et al 2008 ]. Endocrine. Pubertal maturation may be delayed and may require hormonal induction. [ncbi.nlm.nih.gov]

The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI. [nature.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992 Sep;29(9):652–655. [ncbi.nlm.nih.gov]

Mäkitie O (1992) Cartilage-hair hypoplasia in Finland-epidemiologic and genetic aspects in 107 patients. J Med Genet (in press) Google Scholar 17. Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia. [link.springer.com]

Mäkitie O (1992) Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet 29:652–655 CrossRef PubMedCentral PubMed 16. Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I (1995) Cartilage-hair hypoplasia. [springermedizin.de]

Epidemiology Frequency United States Cartilage-hair hypoplasia is a rare defect. It has been described in both Amish and non-Amish populations. [emedicine.medscape.com]

Pathophysiology HME is estimated to occur in 1 in 50,000 people. It is characterized by the growth of cartilage-capped benign bone tumours around areas of active bone growth, particularly the metaphysis of the long bones. [dictionnaire.sensagent.leparisien.fr]

Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]

Pathophysiology The genetic defect in cartilage-hair hypoplasia has been identified as a mutation in the gene for RNAase RMRP, mapped to 9p12. [3, 4, 5, 6, 7, 8, 9, 52, 56] RMRP is a ribonucleoprotein present in the nucleus and mitochondria. [emedicine.medscape.com]

In rare instances autoimmune complications and a form of severe allergic reaction have been observed in CHH; however, the pathophysiology is still unknown [ Bacchetta et al 2009, Narra & Shearer 2009 ]. [ncbi.nlm.nih.gov]

Matrix Biol 17: 169-184 Chan D, Weng YM, Golub S, Bateman JF (1996a) Type X collagen NC1 mutations produced by site-directed mutagenesis prevent in vitro assembly. [dokument.tips]

Varicella-zoster infection after allogeneic bone marrow transplantation: incidence, risk factors and prevention with low-dose aciclovir and ganciclovir. Bone Marrow Transplant. Mar 2000. 25(6):657-64. [Medline]. Thiel CT. [emedicine.medscape.com]

The word medicine is derived from Latin medicus, meaning a physician, Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. [wikivisually.com]

Immediate antiviral treatment with intravenous high-dose acyclovir must be considered at the first symptoms of varicella infection to prevent complications. [ncbi.nlm.nih.gov]

Bone mineral density measurements and careful monitoring of vitamin D levels and radiographic spinal changes are recommended to prevent osteoporotic fractures. [studyres.com]