U-shaped gonadotrophin levels are present from birth to puberty in normal males, while the same pattern, but at markedly higher levels, is present in anorchid boys, indicating that the gonads serve a role in the negative feedback of gonadotrophins in [spandidos-publications.com]

The phenotypes generally taken to identify each are presented in Table 2. [bjo.bmj.com]

Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]

Case Reports Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age M A Musarella. J AAPOS. 2001 Aug. [pubmed.ncbi.nlm.nih.gov]

These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of BBS. [uhb.nhs.uk]

Debunking an Alleged Treatment on the Internet How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. Eye On the Cure Research News All Research [fightingblindness.org]

In order to protect the reproductive capacity of the patient, GnRH analogs were used for CPP treatment. After 15 months of treatment and follow‑up, a physical examination revealed Tanner breast stage 1. [spandidos-publications.com]

Toxic causes related to 6-mercaptopurine treatment were also excluded by weaning him off the treatment for a prolonged time. [hindawi.com]

Standard Therapies Treatment The primary treatment goal for patients with BBS involves treating the specific symptoms affecting each individual. [rarediseases.org]

Weight changes were noted after 52 weeks of treatment. [dovepress.com]

What is the prognosis for an individual with Bardet-Biedl Syndrome, BBS12-related? Predicting symptoms and the course of the disease for individuals with BBS can be difficult due to the variable nature of the condition, even within families. [myriad.com]

On the Cure Research News Oct 6, 2016 Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis [fightingblindness.org]

However, more clinical data and molecular biological evidence are required to confirm the etiology and mechanism of this case. [spandidos-publications.com]

Etiologies of hepatitis were systematically explored. [hindawi.com]

Eur J Hum Genet. 21:8–13. 2013.PubMed/NCBI View Article : Google Scholar 5 Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland [spandidos-publications.com]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]

The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]

JAMA Pediatr. 174(e195881)2020.PubMed/NCBI View Article : Google Scholar 24 Grinspon RP, Ropelato MG, Bedecarrás P, Loreti N, Ballerini MG, Gottlieb S, Campo SM and Rey RA: Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age pathophysiological [spandidos-publications.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

Bardet–Biedl syndrome: genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620. Article Google Scholar Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. [ijponline.biomedcentral.com]

Discussion Studies on recessive diseases in Scandinavia are constrained by low consanguinity rate and small number of children, which prevents statistical significance of the clinical and genetic results for each family. [bjo.bmj.com]

Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

[…] depletion (low-sodium diet, drink adequate amounts of water).74 Metabolic Syndrome Metabolic syndrome has an incidence of 54.3% in patients with BBS.24 Early detection of metabolic syndrome followed by appropriate treatment is necessary in order to prevent [dovepress.com]

There are no proven effective treatments to either prevent or alleviate the deterioration in vision. However, spectacles were advised as low vision was present in our patient, and regular ophthalmological follow-up was stressed upon. [ijdvl.com]