Faculty Bibliography

Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and the Bahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. Our findings indicate that GNE is the gene responsible for recessive HIBM.

BACKGROUND: Hearing loss after intracranial and spinal procedures involving cerebrospinal fluid loss is rarely reported in the literature. We report a patient who suffered from delayed hearing loss after cerebrospinal fluid shunting that improved after revising the shunt to a higher-pressure valve. CASE DESCRIPTION: A 32-year-old woman presented with bilateral hearing loss 4 years after ventriculoperitoneal shunting for communicating hydrocephalus. Her otologic work-up revealed sensorineural hearing loss. In an attempt to improve her hearing, 6 years after the hearing loss began (10 years after the shunt was placed), she underwent a shunt revision in which her valve was changed to a higher-pressure device. After the procedure, she had a significant improvement in her speech discrimination and a mild improvement in her pure tone recognition. These changes were documented with serial audiograms. CONCLUSION: Hearing loss after cerebrospinal shunting procedures is not always limited to the immediate postoperative period. It may be a late complication of cerebrospinal fluid diversion. Chronic hearing loss after ventriculoperitoneal shunting may be treatable by changing the valve to a higher-pressure device. The etiology of hearing loss from intracranial hypotension is briefly discussed

OBJECTIVE: To present the case of an 18-year-old boy with a cleft lip scar and an obligatory need for facial hair who underwent single-follicular-unit graft hair transplantation that resulted in significant moustache hair restoration in a single procedure. SETTING: The surgery was performed in an outpatient private practice setting using oral sedation and local anesthesia. RESULTS: Advances in instrumentation technology and an increased understanding of the anatomical clustering of hair follicles into so-called 'follicular units' containing one to six hairs per unit has resulted in a rapid expansion of hair restoration surgery into new areas including female-pattern alopecia, scarring alopecias, and cosmetic surgery scars. These new techniques can be employed to create natural-looking hair lines in front of artificial hair replacement systems; to improve unnatural looking, old 'large-plug' hair transplants; and to correct discontinuity of eyebrows and hairlines in patients with congenital facial clefts. Increased awareness is needed to incorporate follicular-unit graft hair transplant surgery into the family of corrective surgery subspecialties

The purpose of this study was to establish a novel mouse model of membranous osteotomy healing. By applying this model to transgenic mice or using in situ hybridization techniques, we can subsequently investigate candidate genes that are believed to be important in membranous osteotomy healing. In the current study, 20 adult male CD-1 mice underwent a full-thickness osteotomy between the second and third molars of the right hemimandible using a 3-mm diamond disc and copious irrigation. Compo-Post pins were secured into the mandible, 2 mm anterior and posterior to the osteotomy. After the soft tissues were reapproximated and the skin was closed, an acrylic external fixator was attached to the exposed posts for stabilization. The animals were killed on postoperative day number 7, 10, 14, and 28 (n=5 animals per time point). The right hemimandibles were decalcified and embedded in paraffin for histologic evaluation or immunohistochemistry localizing osteocalcin. At 7 days after the osteotomy, early intramembranous bone formation could be seen extending from either edge of the osteotomized bone. By 10 days, an increasing number of small blood vessels could be seen within and around the osteotomy. At 14 days, the bone edges were in close approximation, and by 28 days the callus had been replaced by actively remodeling woven bone in all specimens examined. Immunohistochemistry demonstrated that osteocalcin expression correlated temporally with the transition from a soft to a hard callus. Furthermore, osteocalcin was spatially confined to osteoblasts actively laying down new osteoid or remodeling bone. This study describes a novel mouse model of membranous osteotomy healing that can be used as a paradigm for future osteotomy healing studies investigating candidate genes critical for osteogenesis and successful bone repair

OBJECTIVE: To determine if fine needle aspiration (FNA) can preclude the requirement for diagnostic open biopsy in suspicious pediatric head and neck masses. METHODS: The records of 40 children presenting to an inner city tertiary care hospital who underwent a total of 50 FNA biopsies during the years 1988-1999 were reviewed. From these 40 patients, 17 children, aged 3 months to 18 years, underwent both clinically indicated FNA biopsy and subsequent open surgical biopsy or excision. Outcome measurements included clinical resolution or surgical pathologic diagnosis. RESULTS: The 17 patients who underwent open surgical biopsy subsequent to the FNA had a total of 21 FNAs performed. Three of these patients had more than one needle biopsy prior to surgery. The histologic diagnosis of the surgical excision confirmed the FNA biopsy cytologic diagnosis in all but two cases. FNA cytologic diagnostic categories included reactive lymph node/non-specific inflammation (25 biopsies), benign cystic process (four), granulomatous disease (eight), malignant neoplasm (three), and benign neoplasm (one). Eight of nine FNAs initially non-diagnostic had either complete resolution of the mass or a diagnosis obtained by subsequent FNA or open biopsy. CONCLUSIONS: FNA is a valuable diagnostic tool in the management of children with the clinical presentation of a suspicious neck mass. The technique reduces the need for more invasive and costly procedures. Early surgical biopsy, however, should be considered in rapidly enlarging masses, in the presence of persistent systemic symptoms, and when repeated FNA cytology is non-diagnostic

BACKGROUND: Various studies have reported an incidence of venous air embolism (VAE) as high as 82.6% during surgical procedures for craniosynostosis. There has been an increase in the use of minimally invasive, endoseopie surgical procedures, including applications for endoscopic strip craniectomy. The current study prospectively evaluated the incidence of VAF during endoscopic strip craniectomy. METHODS: Continuous, intraoperative monitoring for VAE was performed using precordial Doppler monitoring. A recording was made of the Doppler tones and later reviewed to verify its accuracy. RESULTS: The cohort for the study included 50 consecutive neonates and infants ranging in age from 3.5 to 36 weeks and ranging in weight from 3 to 9 kg. Surgical time varied from 31 to 95 min for a total of 2,701 mm of operating time, during which precordial Doppler tones were auscultated. In 46 patients, there was no evidence of VAE. In four patients, there was a single episode of VAE. Two of the episodes of VAE were grade I (change in Doppler tones), and two were grade H (change in Doppler tones and decrease in end-tidal carbon dioxide). No grade III (decrease in systolic blood pressure by 20% from baseline) VAF was noted. CONCLUSION: In addition to previously reported benefits of decreased blood loss, decreased surgical time, and improved postoperative recovery time, the authors noted a low incidence of VAF during endoscopic strip craniectomy in neonates and infants

The majority of adult brachial plexus palsies are posttraumatic injuries caused by high-energy forces, usually involving motor vehicles. In infants, brachial plexus palsies commonly represent obstetrical injuries following excessive traction on the plexus during complex or difficult delivery. Most adult injuries, and occasionally those in infants, represent brachial plexus root avulsion injuries that carry serious ramifications from the standpoint of permanent disability of a paralyzed extremity, prolonged recuperation, and significant socioeconomic impact. Modern-day management of root avulsions should focus on early, aggressive microsurgical reconstruction of the brachial plexus, combining various neurotizations with intraplexus and extraplexus ipsilateral and contralateral nerve donors, utilization of vascularized nerve grafts, and finally the use of free vascularized and neurotized muscles. When these multistage microsurgical management techniques are applied early (with complete avulsions) they may often result in significant return of neurologic function, especially in young patients. Amputation should be looked upon as an option only when these newer microsurgery techniques have failed

Ectropion, or eversion of the lid margin away from the globe, can occur after surgical reconstruction of facial defects that encroach on the lower eyelid. This article discusses prevention of ectropion in the reconstruction of facial defects