She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society.[books.google.com]
Clinical Characteristics Ocular Features: Cataracts are present in both sexes but the opacification is more extensive in males and only partial in females.[disorders.eyes.arizona.edu]
Presents with neural defects and lactic acidosis.[studystack.com]
In multicentric disease, enlarged lymph nodes are present in multiple regions of lymph nodes.[en.wikipedia.org]
The phenotype closely resembled the index family, presenting with generalized tonic-clonic epilepsy, mental retardation and ataxia, but also included prominent upper motor neuron disease.[connection.ebscohost.com]
Cataracts, ataxia, shortstature, and mental retardation in a Chinese family mapped to Xpter-q13.1 . J Hum Genet. 2006;51(8):695-700.[disorders.eyes.arizona.edu]
Abstract Six males in a Chinese family affected by congenital cataracts, cerebellar ataxia, shortstature, and mental retardation , which were tentatively named CASM syndrome. Eight female carriers in the family had cataracts alone.[ncbi.nlm.nih.gov]
PubMed is a searchable database of medical literature and lists journal articles that discuss Cataracts, ataxia, shortstature, and mental retardation. Click on the link to view a sample search on this topic.[rarediseases.info.nih.gov]
Abstract Six males in a Chinese family affected by congenital cataracts, cerebellar ataxia, shortstature, and mental retardation, which were tentatively named CASM syndrome. Eight female carriers in the family had cataracts alone.[nature.com]
Keywords Cataract Cerebellar ataxia Shortstature Mental retardation X-linked recessive This is a preview of subscription content, log in to check access.[link.springer.com]
Muscular weakness 0001324 Muscular hypotonia Low or weak muscle tone 0001252 Posterior subcapsular cataract 0007787 Postural tremor 0002174 Short stature Decreased body height Small stature [ more ] 0004322 X-linked recessive inheritance 0001419 Showing[rarediseases.info.nih.gov]
Males, but not females, have mental retardation with delayed and slurred speech, and are usually unable to walk or sit unassisted due to weakness and unsteadiness. Genetics: This disorder is caused by a mutation on the X chromosome.[disorders.eyes.arizona.edu]
Systemic Features: Males have mild to moderate mental retardation, muscle hypotonia and weakness with postural tremor. Their standing position is broad-based and they are unable to sit or stand otherwise without some support.[disorders.eyes.arizona.edu]
In the review of the literature the weaknesses in the current methology are discussed. The instruments for measurement of severity are lacking reliability and sensitivity to change.[karger.com]
[…] frequent movement and diarrhea Bac overgrowth Loss of Duodenum and Jejunum Calcium, magnesium, phosphorus, iron, water and fat soluble vitamins Starvation Body's adaptation to insufficient caloric intake Diminished weight and height for age Emaciated and weak[quizlet.com]
The term also often encompasses familial forms of juvenilecataract where the opacity is not detectable at birth but develops during childhood and is often progressive.[molvis.org]
Classic Galactosemia Presents with severe liver disease, gram-negative sepsis, and cataracts. could be caused by enzyme deficiency in Galactose-1-phosphate uridyl transferase or UDP-gal-4-epimerase.[studystack.com]
The cataracts are congenital in males but apparently develop later in females who complain of blurredvision from early childhood or during teenage years.[disorders.eyes.arizona.edu]
Nat Genet 37:1309–1311 PubMed CrossRef Google Scholar Begeer JH, Scholte FA, van Essen AJ (1991) Two sisters with mental retardation, cataract, ataxia, progressivehearingloss, and polyneuropathy.[link.springer.com]
Systemic Features: Males have mild to moderate mental retardation, musclehypotonia and weakness with postural tremor. Their standing position is broad-based and they are unable to sit or stand otherwise without some support.[disorders.eyes.arizona.edu]
hypotonia or delayed gross motor development - easy bruising - smooth, velvety skin - molluscoid pseudotumors - most common known cause of inherited intellectual disability - 2nd most common cause of genetic intellectual disability - long face, large[quizlet.com]
Nystagmus. A. Findings of nystagmus tests: a, gaze nystagmus test; b, posi-tional nystagmus test; c, positioning nystagmus test. B. Rebound nystagmus on ENG: a, 30 leftward gaze; b, d, straight gaze; c, 30 leftward gaze.[docslide.com.br]
Am J Med Genet 63:290–292 PubMed CrossRef Google Scholar Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q (2006) Linkage analysis of two families with X-linked recessive congenital motor nystagmus.[link.springer.com]
Congenital cataracts associated with rotary and horizontal nystagmus. Skeletal defects are commonly present. The teeth are malformed and the lateral incisors may be absent. The nails are thin and fragile.[drmhijazy.com]
Nat Genet 37:1309–1311 PubMed CrossRef Google Scholar Begeer JH, Scholte FA, van Essen AJ (1991) Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.[link.springer.com]
[…] important cause of congenital complete AV block in the newborn.82 In Refsum's disease, a lipidosis and genetically determined neuropathy characterized by high levels of phytanic acid, cerebellar ataxia, night blindness, deafness, ichthyosis, cataracts, and polyneuropathy[arthritisresearch.us]
Males, but not females, have mental retardation with delayed and slurred speech, and are usually unable to walk or sit unassisted due to weakness and unsteadiness. Genetics: This disorder is caused by a mutation on the X chromosome.[disorders.eyes.arizona.edu]
They are usually unable to walk unassisted. Speech is dysarthric and its development is delayed. Females are neurologically normal. Genetics A locus containing the disease allele at Xpter-q13.1 cosegregates with the cataract phenotype in both sexes.[disorders.eyes.arizona.edu]
Males, but not females, have mental retardation with delayed and slurredspeech, and are usually unable to walk or sit unassisted due to weakness and unsteadiness. Genetics: This disorder is caused by a mutation on the X chromosome.[disorders.eyes.arizona.edu]
Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status[books.google.com]
TreatmentTreatment Options: Cataract surgery may be indicated in young females and may be beneficial in infant boys.[disorders.eyes.arizona.edu]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
There is no treatment for the neurological symptoms but physical therapy may be helpful.[disorders.eyes.arizona.edu]
Abstract Objective A post-hoc analysis of the data from a randomised clinical trial involving prescription of antipsychotic treatment to never treated first-onset psychotic patients was used to compare the weight change after 6-week olanzapine treatment[onlinelibrary.wiley.com]
We just dont usually start off with this mode of treatment. Somepatients will demand it if they have no time to go for therapy. Chuck returns six weeks later to confirm his right elbow is virtually 100% better.[docslide.net]
Diagnosis and Prognosis: The diagnosis can be made at birth by an ophthalmologist in males. The full syndrome requires a neurological evaluation as well. Young girls with cataracts only can be diagnosed by an ophthalmologist.[disorders.eyes.arizona.edu]
: 10 yr survival 95% 2nd most common Women 3 x more than men Average age: 40-60 y.o Need surgical pathology to differentiate from follicular adenoma: based on capsular invasion Metastasis: via hematogenous spread (bone, liver, lung) Prognosis good: 10[quizlet.com]
Correctly classifying the Castleman disease subtype is important, as the three subtypes vary significantly in symptoms, clinical findings, disease mechanism, treatment approach, and prognosis. Castleman disease is named after Dr.[en.wikipedia.org]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
) Diagnosis: clinical findings, aspiration for culture Treatment: parenteral antibiotics, drainage of abcess Course: complete resolution with normal TFT's Subacute Granulomatous (de Quervain's) Not uncommon (more common in women, 5:1) Probable viral etiology[quizlet.com]
These features suggest a different etiology to the previously described families and indicate the likely presence of a novel locus for X-linked cataract.[molvis.org]
This visual approach is of great advantage in seeking clues to the etiology of cardiovascular disease .[arthritisresearch.us]
To prevent BBI among athletes, prevention of nonsport in g risky behaviors such as unsafe sex and shar in g needles and syr in ges are essential.[yumpu.com]
Prevention Material correction: Choose a comfortable harness with a large belt. The use of crash pads is essential in bouldering. Crash pads are designed to cushion falls and absorb shocks.[2014.kinescalade.com]
Furthermore, prevention of excess weight gain should be emphasised in all women with PCOS of both normal or increased body weight.[starcasm.net]
Adenosine Deaminase Deficency prevents the conversion of adenosine to inosine leading to accumulations of ATP and dATP which inhibits ribonucleotide reductase and thus DNA synthesis. Also decreases B and T cells and is a major cause of SCID.[studystack.com]