Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

Homozygous mutations in the gene CLN1 typically result in infantile-onset neuronal ceroid lipofuscinosis, a severe progressive neurological disorder with early death. The gene CLN1 encodes the enzyme palmitoyl protein thioesterase (PPT1), which is involved in lysosomal degradation of S-fatty acylated proteins. Cysteamine bitartrate (Cystagon) has been shown to reduce the storage material in PPT1 deficient cells.

Probing the human genome in search for a new 3q syndrome.

We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor delay with behavioral problems, coarse facial features, frontal bossing, bushy eyebrows, prominent ears, a small upturned nose and a history of repaired inguinal hernia. There was an additional material on chromosome 4, which could easily be matched with bands 18q21.

The erect penis--injury prone organ.

Erection converts the safe, flaccid penis into a vulnerable organ. During erection, the usually thick tunica albuginea becomes very thin and easily fracturable. Penile fracture is an under-reported urologic injury, with only approximately 100 cases reported in the world literature.