CFTRgene variants:A predisposition factor to aquagenic palmoplantar keratoderma.
This article is protected by copyright. All rights reserved. PMID: 31310009 [PubMed - as supplied by publisher]
CONCLUSIONS: The currently available trials do not provide sufficient evidence to determine the effects (benefits or harms) of using inhaled nitric oxide to treat pain (vaso-occlusive) crises in people with sickle cell disease. Large-scale, long-term trials are needed to provide more robust data in this area. Patient-important outcomes (e.g. measures of pain and time to pain resolution and amounts of analgesics used), as well as use of healthcare services should be measured and reported in a standardized form. PMID: 31603241 [PubMed - as supplied by publisher]
CONCLUSIONS: Moderate to low quality evidence showed neither intravenous magnesium and oral magnesium therapy has an effect on reducing painful crisis, length of hospital stay and changing quality of life in treating sickle cell disease. Therefore, no definitive conclusions can be made regarding its clinical benefit. Further randomized controlled studies, perhaps multicentre, are necessary to establish whether intravenous and oral magnesium therapies have any effect on improving the health of people with sickle cell disease. PMID: 31498421 [PubMed - as supplied by publisher]
Individuals with Cystic Fibrosis (CF) frequently survive into adulthood and many have multi-faceted symptoms that impair quality of life.
Abstract Sickle cell disease afflicts millions of people worldwide and approximately 100,000 Americans. Complications are myriad and arise as a result of complex pathological pathways 'downstream' to a point mutation in DNA, and include red blood cell membrane damage, inflammation, chronic hemolytic anemia with episodic vaso-occlusion, ischemia and pain, and ultimately risk of cumulative organ damage with reduced patient lifespan. The National Heart, Lung, and Blood Institute's 2014 evidence-based guideline for sickle cell disease -management states additional research is needed before investigational curative the...
We present a case of a 4 year old female with pancreatic-sufficient CF, refractory ARP, frequent hospital admissions for abdominal pain, and continued growth failure despite gastrostomy tube and parenteral nutrition.
We present an extremely rare case of a 3-year-old child with a primary carcinoid tumor of the prostate. A 3-year-old boy presented with failure to thrive, constipation, recurrent respiratory tract infections, and pain in the genital area. His karyotype was normal and cystic fibrosis and coeliac disease were excluded prior to further investigation. An abdominopelvic computed tomography scan revealed a prostatic mass. Transrectal ultrasound-guided prostate biopsy was therefore performed and pathological examination revealed a carcinoid tumor.
We present an extremely rare case of a 3-year-old child with a primary carcinoid tumour of the prostate. A 3-year-old boy presented with failure to thrive, constipation, recurrent respiratory tract infections and pain in the genital area. His karyotype was normal and cystic fibrosis and coeliac disease were excluded prior to further investigation. An abdominopelvic CT scan revealed a prostatic mass. Transrectal ultrasound-guided prostate biopsy was therefore performed and pathological examination revealed a carcinoid tumour.
Question: A 28-year-old woman with cystic fibrosis, mild lung disease, and exocrine pancreatic insufficiency, without previous surgery, consulted for a 2-week history of right lower quadrant abdominal pain. The patient denied associated symptoms such as fever, diarrhea, or constipation. Physical examination revealed a painful palpable mass at the right lower abdominal quadrant. Blood tests, including C-reactive protein, were within normal limits and fecal calprotectin was high (234 μg/g feces; normal,
CONCLUSIONS: The included trial provided very low-quality evidence. Self-reported pain relief was greater in the pregabalin group compared to the placebo control group but only using the S-LANSS scale and we are very unsure whether there is a difference. While the pregabalin group tended to have improved quality of life over the duration of the trial, this was very low-quality evidence and we are uncertain whether there is a difference. Adverse effects and withdrawals were similar across the treatment and placebo control group in trial. There are both insufficient trials addressing this review question and insufficient out...
Conclusion: These findings support the use of OMT as a method for the management of chronic constipation and DIOS in the CF population. However, because of the small population size, more research with larger populations is needed. PMID: 31233114 [PubMed - in process]