Evaluating the feasibility of integrating salivary testing for congenital CMV into the Newborn Hearing Screening Programme in the UK.

UNLABELLED: Congenital cytomegalovirus (cCMV) accounts for 20% of all childhood sensorineural hearing loss (SNHL) but is not routinely tested for at birth. Valganciclovir has been shown to prevent hearing deterioration and improve neurocognitive outcomes if started in the first month of life. This study aimed to assess the feasibility of integrating testing for cCMV using salivary swabs into the Newborn Hearing Screening Programme (NHSP). Parents of newborns <22 days old in South West London, who were referred after their initial newborn hearing screen for further audiological testing, were approached by hearing screeners to obtain a saliva sample for CMV DNA polymerase chain reaction (PCR). Eighty percent (203/255) of newborns who were eligible had a saliva swab taken by the hearing screener. Over 99% of results were delivered within the first month of life. Two newborns were identified with cCMV and both seen on day 10 of life by the paediatric specialist. All saliva samples tested delivered a result using real-time PCR. CONCLUSION: It is feasible for hearing screeners to obtain saliva swabs to test for CMV DNA using real-time PCR in newborns referred after their initial hearing screen. Rapid diagnostic testing for cCMV needs a more detailed clinical and cost-effectiveness analysis.

Persistent Immune Thrombocytopenia Resistant to Immunosuppressive Therapy: What Is the Way Forward?

Immune thrombocytopenia purpura (ITP) involves autoimmune induced platelet destruction and decreased platelet production in part due to autoantibody destruction mechanisms. Most autoantibodies involved in its pathogenesis invoke autoreactive T cells and cytokine imbalance, and most drug therapies target these mechanisms. We describe a man in his late 40s, with a medical history of ITP, who presented with blood blisters on his mucosal surfaces and bruises on all four limbs with petechial rashes. He subsequently developed epistaxis and hemoptysis. In the recent past, he had been camping in Malta and felt feverish and nauseous on return. This was his first relapse of the disease in six years, and was unresponsive to prednisolone, IV immunoglobulins, and methylprednisolone, subsequently requiring romiplostim to recover platelet counts and reduce bleeding. When investigating the underlying causes of thrombocytopenia, aspects of virology and rickettsial serology were positive, requiring precautionary measures with long-term maintenance immunosuppression to prevent reactivation of infection.

Differential diagnosis for chronic hypokalaemia.

Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia-Gitelman syndrome (GS).GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification. An ophthalmologist was reviewing the medical literature, which prompted them to investigate for GS. A diagnosis was formed at that time based on the blood and urine chemistry results. However, later we were able to offer the patient genetic testing, which confirmed our provisional diagnosis.