Birt-Hogg-Dubé Syndrome » News

BHD Literature Database Updated

Myrovlytis Trust — Mon, 21 May 2012 15:21:05 +0000

The BHD Literature Database has been updated with a proposal by Dr Rudolf Happle to rename BHD syndrome as Hornstein-Birt-Hogg-Dubé syndrome. The author argues that Hornstein was the first to comprehensively describe the syndrome.

To find out more, download the latest version of the database here.

BHD Literature Database Updated

Myrovlytis Trust — Fri, 11 May 2012 15:16:14 +0000

A case report by Byrne et al is the latest addition to the BHD Literature Database.

Byrne et al presented a patient diagnosed with BHD who was identified to have a renal angiomyolipoma. Renal angiomyolipomas are usually associated with tuberous sclerosis complex (TSC), rather than BHD. The authors highlighted the molecular overlaps between TSC and BHD.

To find out more, download the latest version of the database here.

BHD Literature Database Updated

Myrovlytis Trust — Tue, 01 May 2012 10:43:21 +0000

A case study by Hofmann and Hetz has been added to the BHD Literature Database. The authors reported the case of teenage male twins who both presented with spontaneous pneumothorax, within five months of the each other. The authors discussed risks of spontaneous pneumothorax as well as conditions linked with familial spontaneous pneumothorax such as BHD syndrome. Hofmann and Hetz encouraged clinicians to be aware of underlying hereditary conditions and offer patients appropriate guidance.

To find out more, download the latest version of the database here.

Updated signalling diagram

Myrovlytis Trust — Mon, 30 Apr 2012 14:27:01 +0000

The interactive diagram illustrating the signalling pathways associated with Folliculin has been updated according to the latest research. Additionally, as the pathways are becoming more complex, the diagram now also features a pop-up box with further details.

Explore the diagram here.

BHD Literature Database Updated

Myrovlytis Trust — Fri, 27 Apr 2012 15:53:22 +0000

The BHD Literature Database has been updated with a review of BHD syndrome by Bradley et al. The authors focused on the clinical manifestations and diagnosis of BHD and emphasised the importance of recognising its symptoms.

The article is in Swedish; the abstract is also available in English.

To find out more, download the latest version of the database here.

Bradley et al is freely available to download in the BHD Article Library: Clinical section.

BHD Literature Database Updated

Myrovlytis Trust — Wed, 25 Apr 2012 11:49:19 +0000

The BHD Literature Database has been updated with a case report by Tefekli et al. The authors presented a nephron-sparing surgical procedure on a patient with clinically-consistent BHD syndrome and multiple kidney tumours. The authors questioned the risks of vascular clamping in open surgeries on multiple kidney tumours.

To find out more, download the latest version of the database here.

Tefekli et al is freely available to download in the BHD Article Library: Clinical section.

Internship opportunities

Myrovlytis Trust — Wed, 25 Apr 2012 08:40:27 +0000

The Myrovlytis Trust currently has three part-time internship positions available for nine weeks in July and August 2012. Successful candidates will have an independent project to complete based on analysing research into a rare genetic kidney disorder. The internships will suit recent graduates or students from second year of undergraduate study up to doctoral level. Application deadline: 9th May. Interviews will be held 23rd-28th May.

For more information and application guidelines, download the internship description.

BHD Literature Database Updated

Myrovlytis Trust — Mon, 23 Apr 2012 15:09:04 +0000

The BHD Literature Database has been updated with a report by Cho et al. The authors described a patient with one fibrofolliculoma on the ear.

To find out more, download the latest version of the database here.

BHD Literature Database Updated

Myrovlytis Trust — Mon, 16 Apr 2012 11:12:53 +0000

The BHD Literature Database has been updated with two papers.

Kim et al described a novel in-frame deletion mutation in exon 6 of FLCN. The mutation was identified in a 40 year-old woman who presented with spontaneous pneumothorax and skin lesions. Immediate family members were also identified with history of spontaneous pneumothorax and renal cancer.

Shuch et al reported on the potential of targeted mTOR therapies for metastatic chromophobe renal cell carcinoma (RCC). The authors presented a case study of a patient receiving temsirolimus treatment as well as a review of published reports on mTOR agents. Shuch et al concluded that there is preliminary support for evaluation of these agents in chromophobe RCC.

To find out more, download the latest version of the database here.

Shuch et al is freely available to download in the BHD Article Library: Clinical section.

BHD Literature Database Updated

Myrovlytis Trust — Mon, 26 Mar 2012 09:14:51 +0000

The BHD Literature Database has been updated with a pathological study of BHD-associated pulmonary cysts in 11 individuals from 9 families.

The researchers found that the inner walls of BHD-associated cysts are lined with epithelial cells, and that many of the cysts exhibited internal septa or alveoli within an alveolus. Additionally, positive staining for phospho-S6 ribosomal protein expression pointed to activation of the mTOR pathway. The authors concluded by suggesting that BHD-associated cysts may be considered hamartoma-like cystic alveolar formations associated with disregulated mTOR signalling.

To find out more, download the latest version of the database here.