Cutaneous Keratocyst With D2-40 Immunoreactivity in Basal Cell Nevus Syndrome.

Although not a diagnostic criterion for basal cell nevus syndrome (BCNS, OMIM#109400), cutaneous cysts, particularly epidermoid cysts, are common in this condition. Cutaneous keratocysts, on the other hand, are extremely rare in general and have been identified in only 5 patients with BCNS. Here, we describe a BCNS patient with a cutaneous keratocyst that demonstrated D2-40 (podoplanin) immunoreactivity, which has been detected in odontogenic keratocysts but not cutaneous keratocysts.

Cutaneous findings in hemophagocytic lymphohistiocytosis.

Background: Cutaneous findings associated with hemophagocytic lymphohistiocytosis (HLH) remain largely undescribed in the literature, yet are substantial and correlative with disease course.

Objective: To catalog the clinical findings of cutaneous eruptions associated with HLH.

Methods: We performed a retrospective chart review of patients meeting the criteria for HLH at two hospitals over 5 years.

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for patients with diabetes. Current knowledge of key transcriptional regulators has predominantly come from mouse studies, with rare, naturally occurring mutations establishing their relevance in man. This study used a combination of homozygosity analysis and Sanger sequencing in 37 consanguineous patients with permanent neonatal diabetes to search for homozygous mutations in 29 transcription factor genes important for murine pancreatic development.

High-frequency stimulation in the ventral posterolateral thalamus reverses electrophysiologic changes and hyperalgesia in a rat model of peripheral neuropathic pain.

Chronic neuropathic pain is associated with long-term changes at multiple levels of the neuroaxis, including in the brain, where electrical stimulation has been used to manage severe pain conditions. However, the clinical outcome of deep brain stimulation is often mixed, and the mechanisms are poorly understood. By means of electrophysiologic methods, we sought to characterize the changes in neuronal activity in the ventral posterolateral nucleus of the thalamus (VPL) in a rat model of peripheral neuropathic pain, and to reverse these changes with low-voltage, high-frequency stimulation (HFS) in the VPL.

Minocycline injection in the ventral posterolateral thalamus reverses microglial reactivity and thermal hyperalgesia secondary to sciatic neuropathy.

We hypothesized that microglia in the ventral posterolateral (VPL) nucleus of the thalamus are reactive following peripheral nerve injury, and that inhibition of microglia by minocycline injection in the VPL attenuates thermal hyperalgesia. Our results show increased expression of OX-42 co-localized with phosphorylated p38MAPK (P-p38) in the VPL seven days after chronic constriction injury (CCI) of the sciatic nerve. However, astrocytic GFAP expression in the VPL is unchanged 7 and 14 days after CCI.

Resolution of severe sinus vein thrombosis with super selective thrombolysis in a pre-adolescent with diabetic ketoacidosis and a prothrombin gene mutation.

Cerebral sinus vein thrombosis is rare in children. So far, only three other cases have been reported in a child with diabetes mellitus. This 10 year-old female presented with classic signs of diabetic ketoacidosis which resolved with standard fluid and insulin therapy.