Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.

Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.

Cannabis-related psychosis: Presentation and effect of abstinence.

Background: The correlation between cannabis and negative mental health outcomes has been unequivocally established. Nevertheless, there is still a great need to research different dimensions of cannabis-related disorders, among which the study of cannabis-related psychosis is very important. There is a dearth of research regarding phenomenology and effect of abstinence, particularly from India.

Fatty liver in H63D homozygotes with hyperferritinemia.

To study the clinical correlates of the H63D mutation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified.

Two cases of severe non-specific oesophageal dysmotility showing different response to botulinum injection therapy.

We report 2 cases where treatment of achalasia type symptoms due to severe non-specific oesophageal dysmotility have shown symptom resolution and manometric improvement to intrasphincteric botulinum injections either by itself or in combination with oesophageal dilatation.