Massive haemorrhage due to ulcerative colitis presenting as melaena.

We present a patient with known ulcerative colitis who presented with massive lower gastrointestinal bleeding in the form of melaena. Extensive investigations indicated that the source of blood loss was only from the colon, was attributable to the colitis, and settled when the colitis was treated with steroids. Melaena may be due to blood loss from the colon.     

The effect of experimental diabetes and membrane occlusiveness on guided bone regeneration: A proof of principle study

Clinical Oral Investigations - To evaluate the effect of membrane occlusiveness and experimental diabetes on early and late healing following guided bone regeneration. A total of 30 Wistar rats...     

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

Several different genes have been implicated in the pathophysiology of inherited blistering skin diseases. Recently, autosomal recessive loss‐of‐function mutations in EXPH5 (encoding exophilin‐5, also known as Slac2‐b, a protein involved in intracellular vesicle transport) were identified in a new mechanobullous disease resembling a form of epidermolysis bullosa simplex (EBS). Here, we searched for mutations in EXPH5 in a 4‐year‐old white boy with EBS in whom initial Sanger sequencing of known genes implicated in intraepidermal skin fragility failed to identify pathogenic mutations. Transmission electron microscopy of rubbed nonlesional patient skin revealed disruption of keratinocytes in the lower epidermis with cytolysis and acantholysis, keratin filament clumping and prominent perinuclear cytoplasmic vesicles, and provided the clue to the candidate gene pathology. Sanger sequencing of genomic DNA showed compound heterozygosity for two new mutations in EXPH5, c.1947dupC (p.Pro649fsPro*11) and c.2249C>A (p.Ser750*). Immunofluorescence microscopy of patient skin showed a complete absence of exophilin‐5 labelling. This case represents the third pedigree with EXPH5 mutations resulting in inherited skin fragility. The clinical and molecular data expand genotype–phenotype correlation in this new form of EBS and demonstrate the important role of exophilin‐5 in keratinocyte cell biology.     

Incidence of Thin Basement Membrane Nephropathy in 990 Consecutive Renal Biopsies Examined with Electron Microscopy

Thin basement membrane nephropathy is one of the main causes of hematuria in both children and adults. It is often associated with a family history and its true incidence is unknown. Accurate diagnosis of thin basement membrane nephropathy relies on the presence of attenuated glomerular basement membranes, a finding that can be appreciated only by examination in the electron microscope. In Cyprus the department of electron microscopy has received 990 consecutive renal biopsies for diagnosis. The aim of this study is to define the incidence of thin basement membrane nephropathy in this population sample based on the results of electron microscopy.     

Diplopia associated with the cosmetic use of botulinum toxin a for facial rejuvenation

We report three cases in which cosmetic injections of botulinum toxin A around the eye caused diplopia. Diplopia was due to inferior oblique paresis, which was bilateral in two cases. We suggest that consent for periocular botulinum toxin procedures should include a warning about diplopia.