Danielle Stevenson

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BHD Research Blog
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  • January 23, 2015
  • 09:00 AM
  • 92 views

Fnip1 regulates skeletal muscle fibre type specification, fatigue resistance, and susceptibility to muscular dystrophy

by Danielle Stevenson in BHD Research Blog

Summary of recent paper into the role of Fnip1 in skeletal muscle development.... Read more »

Reyes NL, Banks GB, Tsang M, Margineantu D, Gu H, Djukovic D, Chan J, Torres M, Liggitt HD, Hirenallur-S DK.... (2015) Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 112(2), 424-9. PMID: 25548157  

  • January 23, 2015
  • 03:00 AM
  • 95 views

Fnip1 regulates skeletal muscle fibre type specification, fatigue resistance, and susceptibility to muscular dystrophy

by Danielle Stevenson in BHD Research Blog

Folliculin (FLCN) and the associated folliculin-interacting proteins FNIP1 and FNIP2 have been shown to play a role in cell metabolism through regulation of the AMPK-mTOR pathways. Previously Hasumi et al. (2012) reported that selective deletion of Flcn in mouse skeletal … Continue reading →... Read more »

Reyes NL, Banks GB, Tsang M, Margineantu D, Gu H, Djukovic D, Chan J, Torres M, Liggitt HD, Hirenallur-S DK.... (2015) Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 112(2), 424-9. PMID: 25548157  

  • December 26, 2014
  • 04:00 AM
  • 32 views

BHD Research Blog: 2014 Annual Review

by Danielle Stevenson in BHD Research Blog

With the New Year upon us, we thought we would use this week’s blog to review the studies we’ve particularly enjoyed writing about, and to revisit emerging themes. During the summer-autumn period, there were a number of interesting studies that … Continue reading →... Read more »

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726  

Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM.... (2014) Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK. Cell reports, 7(2), 412-23. PMID: 24726356  

Hasumi Y, Baba M, Hasumi H, Huang Y, Lang M, Reindorf R, Oh HB, Sciarretta S, Nagashima K, Haines DC.... (2014) Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Human molecular genetics. PMID: 24908670  

Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, & Postmus PE. (2014) Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 171. PMID: 24994497  

Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, & Postmus PE. (2014) The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19(8), 1248-50. PMID: 25302759  

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506  

Park H, Tsang M, Iritani BM, & Bevan MJ. (2014) Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development. Proceedings of the National Academy of Sciences of the United States of America, 111(19), 7066-71. PMID: 24785297  

Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L.... (2014) Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10(4). PMID: 24763318  

Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882  

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, & Linehan WM. (2014) Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(5), 431-7. PMID: 24378414  

Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501  

Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB.... (2014) The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation. PMID: 24762438  

  • December 19, 2014
  • 04:00 AM
  • 19 views

A shower of second hit mutations causes bilateral, multifocal kidney cancer in TSC patients

by Danielle Stevenson in BHD Research Blog

Tuberous sclerosis complex (TSC) is caused by autosomal dominant inactivating mutations in either the TSC1 or TSC2 genes, and patients are predisposed to developing tumours in the brain, eyes, heart, skin, lungs and kidneys throughout their lifetime. While more than … Continue reading →... Read more »

Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K.... (2014) A shower of second hit events as the cause of multifocal renal cell carcinoma in Tuberous Sclerosis Complex. Human molecular genetics. PMID: 25432535  

  • December 12, 2014
  • 12:00 PM
  • 25 views

Providing written information significantly improves parents’ understanding of TSC

by Danielle Stevenson in BHD Research Blog

Last week, we launched the new patient information pages on the BHD Foundation website. The information has been rewritten with the principles of health literacy in mind, and we hope these will be of greater use to patients and their families. This week’s blog discusses a study which demonstrates the value of providing well-written patient information.

Tuberous Sclerosis Complex (TSC) is a paediatric genetic syndrome which causes tumours to form in the brain, eyes, heart, skin, lungs and kidneys. There is no cure for TSC, but correct management of the individual symptoms can greatly improve health outcomes. Thus, educating care givers – usually the child’s parents – can improve patients’ quality of life.

Samia et al. (2014) tested whether providing parents with written information in addition to the information given in person at the TSC clinic in Cape Town, South Africa, improved parents’ understanding of TSC. 21 parents took part in the study, their baseline understanding of TSC was determined, and parents were split into two groups at random. The first group received a written leaflet about TSC to take home after their child’s appointment, while the second group did not. Parents’ knowledge of TSC was assessed 3 months later at their child’s next clinic appointment. Leaflets were based on information available on the TS Alliance website, and translated into both Xhosa and Afrikaans.

The study found that parents’ understanding of TSC increased by 20% in the group who received the written leaflet, compared with only 3% in the group who did not. The difference in knowledge was particularly striking in those parents who had completed between 8 and 11 years of education. The level of knowledge improved less in those parents who had over 11 years of education, suggesting that their baseline level of understanding was already high.

However, the study also found that written information was not useful to those parents who had not completed at least 8 years of education, and should be supplemented with verbal counseling. These appointments should be in a more relaxed setting, as previous studies have shown that in the formal setting of a doctor’s appointment, patient retention of information is low.

In this study, the majority of caregivers who took part in the study were female (18/21), and for most the clinic was their primary source of information about TSC. However, there are countries where women do not receive the same level of education as men, but are still likely to be the main caregiver of a disabled child. In these cases, health information providers will need to predominantly cater for a low literacy audience.

Additionally, in the UK, the internet is the primary source of health information for 87% of people, meaning that information providers should predominantly produce online content, and concentrate less on developing hard copy pamphlets to distribute at clinics. Thus, information providers need to understand their audience and have a flexible approach. This is especially important for those writing rare disease information, where fewer information resources are available and information providers are more likely to be generating information that is used internationally.

The link between improved health literacy and health outcomes is well-documented (Berkman et al., 2011): greater understanding of a disease leads people to seek diagnosis earlier and to greater compliance to treatment regimens. In turn this leads to improved health outcomes and reduced healthcare costs. Therefore, providing patients and caregivers with the right information, at the right time, and in the right format is an issue of public health.



Berkman ND, Sheridan SL, Donahue KE, Halpern DJ, & Crotty K (2011). Low health literacy and health outcomes: an updated systematic review. Ann Intern Med, 155 (2), 97-107. PMID: 21768583
Samia P, Donald KA, Schlegel B, & Wilmshurst JM (2014). Parental Understanding of Tuberous Sclerosis Complex. Journal of child neurology PMID: 25414235... Read more »

Samia P, Donald KA, Schlegel B, & Wilmshurst JM. (2014) Parental Understanding of Tuberous Sclerosis Complex. Journal of child neurology. PMID: 25414235  

  • December 5, 2014
  • 11:37 AM
  • 10 views

Introducing the new BHD patient information pages

by Danielle Stevenson in BHD Research Blog

Like many rare diseases, there is no cure for BHD. However, appropriate management of symptoms – particularly kidney cancer – can vastly reduce the likelihood of early death due to the disease (Menko et al., 2009, Stamatakis et al., 2013). … Continue reading →... Read more »

Gupta N, Seyama K, & McCormack FX. (2013) Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12(3), 387-96. PMID: 23715758  

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The Lancet. Oncology, 10(12), 1199-206. PMID: 19959076  

Stamatakis L, Metwalli AR, Middelton LA, & Marston Linehan W. (2013) Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12(3), 397-402. PMID: 23703644  

  • November 28, 2014
  • 04:56 AM
  • 141 views

The natural history of angiomyolipoma in cases of sporadic LAM

by Danielle Stevenson in BHD Research Blog

Lymphangioleiomyomatosis (LAM) is a cystic lung disease that predominantly affects women. Roughly 90% of cases are sporadic and are caused by somatic mutation of the TSC2 gene, but some patients develop LAM as part of the syndrome Tuberous Sclerosis Complex … Continue reading →... Read more »

  • November 21, 2014
  • 02:00 AM
  • 84 views

Computational approaches may expedite drug repurposing for rare diseases

by Danielle Stevenson in BHD Research Blog

Drug repurposing is predicated on the fact that many diseases are caused by the dysregulation of similar signaling pathways, or that drugs may affect several biological targets at once, meaning that a single drug may be able to treat multiple … Continue reading →... Read more »

  • November 14, 2014
  • 03:00 AM
  • 85 views

Nephron-sparing surgery reduces the risk of cardiovascular events

by Danielle Stevenson in BHD Research Blog

Radical nephrectomy is generally the preferred method to treat advanced kidney cancers, while partial nephrectomy is performed when the disease is localised, or if the patient has a genetic predisposition to developing kidney tumours. However, a recent study suggests that … Continue reading →... Read more »

  • November 7, 2014
  • 03:00 AM
  • 144 views

Cohort study describes the kidney tumour characteristics of 33 BHD patients

by Danielle Stevenson in BHD Research Blog

In order to determine the characteristics of renal cell carcinomas (RCC) in BHD patients, Benusiglio et al. (2014) recruited 124 French BHD patients from Hôpital Bicêtre near Paris, and the Edouard Herriot University Hospital in Lyon. Of the patients recruited, … Continue reading →... Read more »

  • October 31, 2014
  • 06:22 AM
  • 143 views

TSC1 is required for iNKT cell maturation and function

by Danielle Stevenson in BHD Research Blog

Invariant Natural Killer T (iNKT) cell development is highly regulated, starting at stage 0, where DP thermocytes become committed to the iNKT cell lineage, and ending as fully mature stage 3 iNKT cells, which are capable of illiciting an immune … Continue reading →... Read more »

Wu J, Yang J, Yang K, Wang H, Gorentla B, Shin J, Qiu Y, Que LG, Foster WM, Xia Z.... (2014) iNKT cells require TSC1 for terminal maturation and effector lineage fate decisions. The Journal of clinical investigation, 124(4), 1685-98. PMID: 24614103  

  • October 24, 2014
  • 03:00 AM
  • 139 views

Somatic mutations in FLCN can cause cancer

by Danielle Stevenson in BHD Research Blog

The majority of research on FLCN is within the context of BHD syndrome, which is caused by heterozygous germline mutations in the FLCN gene. However, two recent papers have reported that somatic FLCN mutations may be a factor in the … Continue reading →... Read more »

Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501  

  • October 17, 2014
  • 03:00 AM
  • 161 views

BHD lung cysts are not degenerative, but may cause pneumothorax

by Danielle Stevenson in BHD Research Blog

Although 90% of BHD patients develop lung cysts, there is very little information about the natural history of BHD lung cysts. In order to determine how lung cysts change over time, Johannesma et al. (2014a) compared the results of two … Continue reading →... Read more »

Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, & Postmus PE. (2014) The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19(8), 1248-50. PMID: 25302759  

  • October 10, 2014
  • 03:00 AM
  • 167 views

The Amsterdam Patient Charter for Global Kidney Cancer Care

by Danielle Stevenson in BHD Research Blog

Kidney cancer patients face a number of challenges, such as lack of awareness both by patients and their doctors, difficulty getting a diagnosis, limited access to treatment, inappropriate treatment, lack of information and lack of support. Given that there were … Continue reading →... Read more »

Giles RH, Maskens D, & the International Kidney Cancer Coalition. (2014) Amsterdam Patient Charter for Global Kidney Cancer Care. European urology. PMID: 25257033  

  • October 3, 2014
  • 05:17 AM
  • 176 views

Routine screening of lung resections taken during surgery for pneumothorax may help identify unrecognised cases of BHD

by Danielle Stevenson in BHD Research Blog

In many cases, early diagnosis means treatments are more effective, cost less and save more lives. Screening programmes aid early diagnosis and can be used to screen whole populations, such as the fetal anomaly screening given to all pregnant women … Continue reading →... Read more »

  • September 26, 2014
  • 02:53 AM
  • 205 views

Telomere shortening may cause genetic anticipation in VHL syndrome

by Danielle Stevenson in BHD Research Blog

Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. A study earlier this year showed that there is evidence of genetic anticipation … Continue reading →... Read more »

  • September 19, 2014
  • 05:06 AM
  • 222 views

Air travel may cause pneumothorax in BHD patients

by Danielle Stevenson in BHD Research Blog

One concern many BHD patients have is whether it is safe to take commercial flights, or whether this would increase the chances of a pneumothorax. A recently published study, by Professor Pieter Postmus and his team at the VU Medical … Continue reading →... Read more »

Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882  

  • September 12, 2014
  • 04:38 AM
  • 201 views

Survivorship is an increasingly important component of cancer care

by Danielle Stevenson in BHD Research Blog

A cancer survivor is defined as anyone who is living with cancer, or whose cancer has gone into remission. Traditionally cancer care has concentrated on diagnosing and treating the disease, and comparatively little support has been given to patients once … Continue reading →... Read more »

  • September 5, 2014
  • 04:49 AM
  • 183 views

FLCN modulates autophagy via its interactions with GABARAP and ULK1

by Danielle Stevenson in BHD Research Blog

A number of studies have suggested that FLCN regulates autophagy, although precisely how was unknown. A recent study by Dr Elaine Dunlop and Dr Andy Tee from Cardiff University report that FLCN regulates autophagy through interactions with GABARAP and ULK1. … Continue reading →... Read more »

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726  

  • August 29, 2014
  • 09:09 AM
  • 188 views

Folliculin function is highly cell-specific

by Danielle Stevenson in BHD Research Blog

Whilst trying to elucidate the role of FLCN, a number of studies have reported opposing results. FLCN has been shown to both activate and inhibit mTOR signalling, AMPK signalling and RhoA signalling and to both potentiate and abrogate cell-cell adhesion. … Continue reading →... Read more »

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506  

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