Clinical Research , 

Fabry disease: A phase 3 randomized double-blind clinical trial study showed the efficacy of migalastat in patients with the classic phenotype of Fabry disease and amenable variants, regardless of disease severity

• Consult the pubmed abstract

• To read more about “Fabry disease”

• Genet Med. 2019 Sep;21(9):1987-1997

Uveitis: A randomized clinical trial showed that the use of mycophenolate mofetil compared with methotrexate as first-line corticosteroid-sparing treatment did not result in superior control of inflammation

• Consult the pubmed abstract

• To read more about “Uveitis”

• JAMA. 2019 Sep 10;322(10):936-945

Prader-Willi syndrome: A phase III study showed that recombinant human growth hormone replacement therapy increased growth, and improved motor and cognitive development in paediatric patients with similar safety profile

• Consult the pubmed abstract of the study
 
• Consult the pubmed abstract of the safety profile study

• To read more about “Prader-Willi syndrome”

• Neuro Endocrinol Lett. 2010;31(4):553-8
• J Clin Endocrinol Metab. 2019 Apr 18. pii: jc.2019-00391

Osteogenesis imperfecta: A cohort study showed that individualized treatment with denosumab in children could prolong the intervals between drug administrations and reduce the total dose about by 25%

• Consult the pubmed abstract

• To read more about “Osteogenesis imperfecta”

• Orphanet J Rare Dis. 2019; 14: 219

Hereditary hemorrhagic telangiectasia : A retrospective study showed that apixaban appeared to be associated with lesser bleeding risk than rivaroxaban

• Consult the pubmed abstract

• To read more about “Hereditary hemorrhagic telangiectasia”

• Orphanet J Rare Dis. 2019 Aug 28;14(1):210.

Proximal spinal muscular atrophy type 2: A retrospective observational study showed that the severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression

• Consult the pubmed abstract

• To read more about “Proximal spinal muscular atrophy type 2”

• Neurology. 2019 Sep 24;93(13):e1241-e1247

Systemic lupus erythematosus: A multicenter observational study of 147 patients showed that rituximab could be a potential treatment option in difficult to treat patients

• Consult the pubmed abstract

• To read more about “Systemic lupus erythematosus”

• Arthritis Rheumatol. 2019 Oct;71(10):1670-1680

Scleroderma: A study showed a protective effect against cancer of antibodies to the large subunits of both RNA Polymerases I and III

• Consult the abstract

• To read more about “Scleroderma”

• Arthritis Rheumatol. 2019 Sep;71(9):1571-1579

Turner syndrome: A study showed that long-term cortisol exposure was associated with short stature and increased total cholesterol levels

• Consult the abstract

• To read more about “Turner syndrome”

• J Clin Endocrinol Metab. 2019 Apr 11

Behçet disease: A study showed that stekinumab seemed to be effective in treating Behçet disease-related oral ulcers that are resistant to treatment with colchicine

• Consult the pubmed abstract

• To read more about “Behçet disease”

• Arthritis Rheumatol. 2019 Oct;71(10):1727-1732

Hypoparathyroidism : A prospective study showed an improvement of the quality of life with rhPTH(1-84) throughout 8 years of therapy

• Consult the pubmed abstract

• To read more about “Autoimmune hypoparathyroidism”

• J Clin Endocrinol Metab. 2019 Jul 1;104(7):2748-2756

Preeclampsia: A study showed that planned early delivery reduced maternal morbidity and severe hypertension compared with expectant management and such hypertensive disorder of pregnancy should be considered as a screening tool for cardiovascular events

• Consult the pubmed abstract of the trial
 
• Consult the pubmed abstract of the cohort study

• To read more about “Preeclampsia”

• Lancet. 2019 Sep 28;394(10204):1181-1190
• Circulation. 2019 Sep 24;140(13):1050-1060