On this page you can find some general statistics about the data present in DIDA. General database statistics Variant effects Almost all variants present in DIDA are non-synonymous: 68.41% are missense, 13.74% are frameshift and 8.79% are nonsense. [dida.ibsquare.be]

The clinical findings of the family presented in this study are very similar to the two cases reported by Al-Awadi and Mégarbané (Table), and it may be suggested that this is the report of a 3rd family with a similar clinical presentation. [jpma.org.pk]

Ocular manifestations : patients usually present with marked decrease in vision. [ijem.in]

Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum. [rarediseases.org]

This condition, in which the hypogonadism is secondary and polydactyly is not present, is similar to, but distinct from, the syndromes of Laurence-Moon (245800) and Biedl-Bardet (209900). [omim.org]

• Thyroid Nodule

  39 THE THYROID NODULE 374 HORMONE ERNEST L MAZZAFERRI 402 THYROID HORMONE RESISTANCE KENNETH D BURMAN 428 THYROID FUNCTION TESTS 329 and LEONARD WARTOFSKY 440 THYROID SONOGRAPHY COMPUTED and MARTIN 1 SURKS 454 ABNORMAL THYROID FUNCTION TEST 47 THYROID [books.google.com]

• Primary Amenorrhea

  amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). [ebi.ac.uk]

  amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786 8 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187 9 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144 10 secondary [malacards.org]

  The females presented with primary amenorrhea. Both had partial alopecia especially on the temporo-parietal regions of the cranium. Their eyebrows and eyelashes were intact. They had streak ovaries. [jpma.org.pk]

  The initial findings include one or several of the following features: gait disturbance, visual impairment due to chorioretinal dystrophy or atrophy, anterior hypopituitarism, or delayed puberty/primary amenorrhea. [ncbi.nlm.nih.gov]

  Bronchitis Immotile cilia Ciliary dyskinesia Recurrent otitis media Otitis media Leukocytosis Dyskinesia Respiratory tract infection Pneumonia Recurrent respiratory infections Primary amenorrhea Schwannoma Pterygium Multiple lentigines Asymmetry of the [mendelian.co]

• Nocturia

  Brand-new chapters and comprehensive updates throughout include new information on perioperative care in adults and children, premature ejaculation, retroperitoneal tumors, nocturia, and more! [books.google.com]

• Premature Ejaculation

  Brand-new chapters and comprehensive updates throughout include new information on perioperative care in adults and children, premature ejaculation, retroperitoneal tumors, nocturia, and more! [books.google.com]

METHODS: Two unrelated women with a disorder showing retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup [ncbi.nlm.nih.gov]

• Abnormal Thyroid Function Test

  39 THE THYROID NODULE 374 HORMONE ERNEST L MAZZAFERRI 402 THYROID HORMONE RESISTANCE KENNETH D BURMAN 428 THYROID FUNCTION TESTS 329 and LEONARD WARTOFSKY 440 THYROID SONOGRAPHY COMPUTED and MARTIN 1 SURKS 454 ABNORMAL THYROID FUNCTION TEST 47 THYROID [books.google.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

including rituximab and who either had a treatment-free ... [centerwatch.com]

Treatment Treatment Options: No treatment for the general disorder has been described. [disorders.eyes.arizona.edu]

Diagnosis - Hypogonadism retinitis pigmentosa Home medical testing related to Hypogonadism - retinitis pigmentosa: Vision & Eye Health: Home Testing: Home Eye Tests Home Vision Tests Prognosis - Hypogonadism retinitis pigmentosa Not supplied. [checkorphan.org]

prognosis? -damage to the Leydig cells impairs testosterone production and/or damages the seminiferous tubules, with resulting oligospermia or azoospermia and elevated LH and FSH, in a setting of low testosterone. [quizlet.com]

The prognosis of hereditary haemochromatosis has improved due to earlier genetic screening. [ojrd.biomedcentral.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.es]

Definition, Prevalence, Etiology, and Pathogenesis Prader, Labhart, and Willi described the first patient with this syndrome in 1956. 2 Prader-Willi syndrome (PWS) is the most common syndromal cause of human obesity, with an estimated prevalence of about [clinicalgate.com]

The cases presented may be a part of the syndrome, or an allelic entity, the etiology of which is currently unknown. [jpma.org.pk]

A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977 Jul 7. 297(1):1-6. [Medline]. Rossman CM, Forrest JB, Lee RM, Newhouse MT. The dyskinetic cilia syndrome. [emedicine.medscape.com]

Etiology is usually unknown. Sperm counts may be slightly low if one testis is undescended but are almost always very low if both are undescended. [msdmanuals.com]

67 Obstructive Azoospermia 83 Azoospermia due to Spermatogenic Failure 97 Ejaculatory Dysfunction 115 Male Contraception 145 Semen Assessment 163 Identification and Preparation of Sperm for ART 169 The Role of Nutraceuticals in Male Fertility 181 The Epidemiology [books.google.com]

Sjögren–Larsson syndrome in Sweden: a clinical, genetic and epidemiologic study. Clin Genetics. 1981;19:233–256. Rogers GR, Rizzo WB, Zlotogorski A, et al. [healio.com]

Fraser syndrome: Epidemiological study in a European population. Am J Med Genet A 2013; 161A:1012–1018. Google Scholar | Crossref | ISI267. Bierich, JR, Christie, M, Heinrich, JJ, Martinez, AS. [journals.sagepub.com]

The molecular pathophysiology of PWS remains unclear, although several candidate genes in this region have been studied and their expression has been shown to be absent in postmortem brains of PWS patients. 4 Balanced translocations that leave the SNURF-SNRPN [clinicalgate.com]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996; 335(25):1870-1878. Nakae J, Tajima T, Sugawara T et al. [endocrine.gr]

On the whole, the pathophysiology of endocrine dysfunctions in IEM remains poorly understood. [ojrd.biomedcentral.com]

N Engl J Med 2003;349:1614-1627 Seminara SB, Hayes FJ, Crowley WF, Jr: Gonado-tropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [karger.com]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations. Endocr Rev 1998;19:521–539. Google Scholar | ISI23. [journals.sagepub.com]

Prevention - Hypogonadism retinitis pigmentosa Not supplied. [checkorphan.org]

Good dietary control may prevent the formation and progression of cataracts and it has been reported that they may regress as well but only prior to the rupture of cell membranes. [disorders.eyes.arizona.edu]

The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. [rarediseases.org]

Prevention of Secondary Complications Daily physical therapy is recommended to maintain and improve coordination, muscle strength, and gait; reduce spasticity; and prevent contractures. [ncbi.nlm.nih.gov]

It also prevents closure of the potassium channels, inducing a defect in insulin secretion [ 13 – 15 ]. Insulin sensitivity in skeletal muscle is also decreased [ 15 ]. [ojrd.biomedcentral.com]