A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.

We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles.

Primary malignant lymphoma in the cerebellopontine angle.

Primary malignant lymphoma is an uncommon disease of the central nervous system (CNS). Immuno-compromised patients are at high risk of development of malignant lymphoma. We describe a case of primary CNS lymphoma presenting as a solitary cerebellopontine angle lesion. The patient had undergone extirpation of rectal cancer four years previously. Malignant lymphoma presenting as a cerebellopontine angle mass is extremely rare, with only 10 such cases (seven were primary, and the other secondary) previously reported.

[Mandibular reconstruction using a vascularized osteocutaneous scapular flap].

Composite tissue defect of the mandible following the surgical resection of head and neck neoplasma or osteoradionecrosis causes functional and cosmetic disorders. Mandibular reconstruction is, therefore, necessary to obtain satisfactory results. The introduction of microvascular surgery has made it possible to transfer various types of vascularized bone grafts and this technique is considered one of the most reliable procedures for mandibular reconstruction. Recently it has been reported that an osteocutaneous scapular flap is useful for mandibular reconstruction. We have performed, over the last 2.5 years, 13 mandibular reconstructions using a vascularized osteocutaneous scapular free flap, and successful results have been achieved. The features of this flap are as follows: 1) it provides a consistent blood supply to the bone and the skin and has a constant vascular pedicle; 2) since the skin island and bone flap have separate pedicles, three-dimensional reconstructions are facilitated; 3) if needed, two skin flaps can be elevated; 4) the skin island is not so bulky; 5) the lateral border of the scapula provides highly vascularized bone of thick cortical density and osteotomies are safely performed; 6) using an angular branch based on thracodorsal artery, a bi-pedicled scapula bone can be raised and two completely vascularized bone segments can be transferred with a single pedicle. Thus, a vascularized osteocutaneous scapular flap has proven very useful for complex mandibular reconstructions.

[Skull base surgery using the degloving technique--an approach without facial scarring].

Skull base surgery has been performed in 16 cases for en bloc resection of the nasal cavity and paranasal sinus carcinoma invading the anterior and middle skull base in our department. The surgical approach to skull base surgery is mainly a combined craniofacial approach, which includes craniotomy via a coronal incision intracranially and a transfacial or transoral approach extracranially. The direct transfacial approaches, such as lateral rhinotomy, Weber-Furguson incision, and midfacial split, resultin facial scarring. The midface degloving procedure was reported by Casson in 1974. This method can expose the midfacial skeleton by lifting the soft tissue from the face through an intraoral approach without external scarring. The authors have modified Casson's facial degloving technique and applied it to skull base surgery. The entire cranium and facial skeleton can be extensively degloved by using coronal, gingival and conjunctival incisions. Then, en bloc resection of the craniofacial compound segment can be accomplished through this degloving approach without external scarring of the face in anterior and middle skull base surgery. The authors have performed this procedure in 2 cases, and proved it to be an extremely valuable technique, displaying excellent cosmetic and functional results with minimal complications.

Detection of varicella-zoster virus DNA by field-inversion gel electrophoresis.

A new method for detection of varicella-zoster virus (VZV) DNA using field-inversion gel electrophoresis (FIGE) was devised. VZV-genomic DNA could be differentiated from the host cell DNA of human embryonic lung (HEL) fibroblasts infected with VZV under electrophoretic conditions allowing resolution of linear and double-stranded DNAs in the 49-230 kilobase pairs (Kb) range. The detection of VZV-genomic DNA from infected HEL cells was successful regardless of whether the VZV was a laboratory strain, live vaccine strain, or fresh isolate. Under the same electrophoretic conditions, DNA of VZV-infected HEL cells could be clearly differentiated from DNA obtained from HEL cells infected with herpes simplex virus type 1 (HSV-1), type 2 (HSV-2), or human cytomegalovirus (HCMV). Furthermore, VZV genomic DNA could be detected from as small a sample as 1.9 x 10(4) VZV-infected HEL cells. Finally, we could detect VZV genomic DNA from 10 samples of vesicle tissue (blister lids, each about 1-4 mm2) and one sample of vesicle fluid (about 5 microliters) obtained from patients diagnosed as having herpes-zoster. The results of this study indicate that FIGE is a simple and promising method for the detection of VZV from clinical materials as well as infected in vitro cultured cells.