Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study.

Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses.

Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions.

Median nerve stimulated short-latency somatosensory evoked potentials (MN-SSEPs) were performed in two young children with extrapyramidal symptoms. Brain MRI showed bilaterally symmetric striatal lesions in both cases. The subcortical components (N9, N11, N13, N18, P11, and P13) and the parietal component (N20) were normally detected, whereas the frontal component (N30) was not detected bilaterally in either case.

A case of juvenile myelomonocytic leukemia with concomitant cytomegalovirus infection.

Infantile cytomegalovirus (CMV)-associated disease and juvenile myelomonocytic leukemia (JMML) frequently present with similar clinical features, and thus the differential diagnosis is often difficult. An early and definite diagnosis of these disorders is required because their therapeutic approaches are very different. The authors describe a 2-month-old Japanese girl with JMML and CMV infection.

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Glycogen storage disease type 1a is caused by a deficiency in glucose-6-phosphatase (G6Pase), a nine-helical endoplasmic reticulum transmembrane protein required for maintenance of glucose homeostasis. To date, 75 G6Pase mutations have been identified, including 48 mutations resulting in single-amino acid substitutions. However, only 19 missense mutations have been functionally characterized.