Increasing sodium removal on peritoneal dialysis: applying dialysis mechanics to the peritoneal dialysis prescription.

Optimal fluid removal on peritoneal dialysis (PD) requires removal of water coupled with sodium, which is predominantly achieved via the small pores in the peritoneal membrane. On the other hand, free-water transport takes place through aquaporin-1 channels, but leads to sodium retention and over hydration. PD prescription can be adapted to promote small pore transport to achieve improved sodium and fluid management.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because of altered regulation of platelet formation from megakaryocytes (MKs). We report the identification of DIAPH1, which encodes the Rho-effector diaphanous-related formin 1 (DIAPH1), as a candidate gene for MTP using exome sequencing, ontological phenotyping, and similarity regression.

Proteus syndrome: evaluation of the immunological profile.

Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.

Extent of hippocampal atrophy predicts degree of deficit in recall.

Which specific memory functions are dependent on the hippocampus is still debated. The availability of a large cohort of patients who had sustained relatively selective hippocampal damage early in life enabled us to determine which type of mnemonic deficit showed a correlation with extent of hippocampal injury. We assessed our patient cohort on a test that provides measures of recognition and recall that are equated for difficulty and found that the patients' performance on the recall tests correlated significantly with their hippocampal volumes, whereas their performance on the equally difficult recognition tests did not and, indeed, was largely unaffected regardless of extent of hippocampal atrophy.

Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery.

Objective: Antiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long-term seizure outcomes. We now aimed to evaluate the effect of AED withdrawal on postoperative intelligence quotient (IQ), and change in IQ (delta IQ) following pediatric epilepsy surgery.

Routine monitoring of adenovirus and norovirus within the health care environment.

This study investigated the presence of adenovirus and norovirus on ward surfaces using real-time polymerase chain reaction (PCR) to assist in the development of evidence-based infection control policy. Screening was carried out weekly for 6 months in the common areas of 2 pediatric wards. Additionally, a one-off screening was undertaken for adenovirus and norovirus on a day unit and for adenovirus only in patient cubicles while occupied.

Factor VIII brand and the incidence of factor VIII inhibitors in previously untreated UK children with severe hemophilia A, 2000-2011.

The effect of recombinant factor VIII (rFVIII) brand on inhibitor development was investigated in all 407 severe hemophilia A previously untreated patients born in the United Kingdom (UK) between 1 January 2000 and 31 December 2011. Eighty-eight (22%) had been in the RODIN study. Information was extracted from the National Haemophilia Database.

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Background: Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described.

Objective: We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular.

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

Background: Hyperinsulinemic hypoglycemia (HH), characterized by unregulated insulin secretion, is an important cause of persistent and severe hypoglycemia. The biochemical picture of HH is hypoketotic hypo-fatty-acidemic hypoglycemia along with elevated serum insulin. Not infrequently, serum insulin might be undetectable in HH despite the presence of evidence of insulin action (suppressed ketogenesis and lipolysis).

Microscopic polyangiitis presenting with hemorrhagic stroke.

Microscopic polyangiitis associated with antineutrophil cytoplasmic antibodies directed against myeloperoxidase rarely affects the central nervous system, and this is common in the presence of other organ involvement. The authors report the case of a 12-year-old girl who presented with multiple acute parieto-occipital hematomas as the only manifestation of presumed microscopic polyangiitis. Early treatment with immunosuppression resulted in complete recovery and a favorable outcome.