Nond Rojvachiranonda

Frontoethmoidal encephalomeningocele: surgical correction by the Chula technique.

&NA; This study reevaluates a surgical technique known as the Chula technique, previously reported in 1991 for correction of frontoethmoidal encephalomeningocele. From 1986 to 1999, 108 patients were operated on with this technique, which could remove the herniation mass, repair dural and bone defects, reconstruct the naso‐orbital area, and restore aesthetic facial appearance in a single stage. Formal frontal craniotomy was not necessary. The result has been very satisfying in terms of safety, cure rate, and aesthetic outcome. Spontaneous improvement of lacrimal passage obstruction occurred in 85.2 percent of cases, and dacryocystorhinostomy was required in the rest. There was no mortality. Complications (e.g., wound infection, 6.5 percent; wire extrusion, 3.7 percent; meningitis, 2.8 percent; cerebrospinal fluid leakage, 2.8 percent; and postoperative increased intracranial pressure, 2.8 percent) were much less frequent than in other reports. With a mean follow‐up period of 439 days (maximum, 12 years), there has been no recurrence. (Plast. Reconstr. Surg. 111: 556, 2003.)

Frontoethmoidal encephalomeningocele: new morphological findings and a new classification.

Given a lack of a comprehensive classification for the frontoethmoidal encephalomeningocele (FEEM), clinical, photographic, and computed tomography (CT) data of 23 nonoperated patients were reviewed. Extracranial pathological findings of interest included herniation masses, facial deformities, and frontonasal bone morphology. Intracranial pathological findings of interest included morphology of the anterior cranial floor and brain malformations. Stereographic software processed data from a new-generation CT scanner into three-dimensional pictures that revealed some interesting morphological findings not often appreciated (eg, herniation mass without underlying external bone defect; mass at location far from external bone defect [“sequestrated cephalocele”]; new type of external bone defect characterized by a combination of nasoethmoidal and naso-orbital defects; correlation between mass, external bone defect, and exit pathway of herniation). Given these observations plus current knowledge available in the medical literature, a new classification system was developed that covers phenotypes and severity of the disease. The “FEEM classification” is an alphanumeric system based on facial deformities, external bone defect, exit pathway of herniation, and malformation of brain. It was tested in 42 patients for usability and validity. When combined with a newly designed “FEEM diagram,” relevant pathological findings can be recorded in an objective manner so that diagnosis becomes more precise and uniform and comparison of outcome is possible. It also emphasizes the fact that FEEM has a range of manifestations governed by dynamic interaction between structural defects and herniation. Each clinical entity is a final result of its own disease course (stable, progressive, or regressive FEEM), with a varying degree of communication between the external mass and the central nervous system.

FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

Abstract Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis. It is characterized by craniosysnostosis, midface hypoplasia, broad and medially deviated thumbs, and great toes with partial syndactyly of the digits. Here, we described clinical and genetic features of 12 unrelated Thai individuals with PS. All 12 patients were sporadic, and advanced paternal age was found in 50% of the cases. Polymerase chain reaction sequencing of FGFR1 exon 5 and FGFR2 exons 8, 10, 15, 16, and 17 was performed in all PS patients and revealed 9 recurrent mutations in all patients. Most of the mutations clustered in exons 8 and 10 (9/12) accounting for 75% of PS cases. The most frequently detected mutation, p.S351C, was associated with the severe form of PS in the Thai population. Less frequent mutations in exons 16 (p.K641R) and 17 (p.G663E) were also identified. In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation. Knowing the mutation spectrum of the responsible genes could lead to the most effective strategy in identifying mutations causing Pfeiffer syndrome in the Thai population.

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.

Van der Woude syndrome (VWS) is a dominantly inherited disorder characterized by cleft lip with or without cleft palate and lip pits. It remains the most common syndromic form of oral clefts. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. We reported three unrelated families with lower lip anomalies. Two had lower lip pits, a cardinal sign of VWS, but the other had a heart‐shaped mass on lower lip without pits, oral clefts, or hypodontia. This isolated anomaly has not been previously observed in VWS. We performed mutation analysis by PCR‐sequencing the entire coding region of the IRF6 gene. Three potentially pathogenic mutations, c.145C>T (p.Q49X), c.171T>G (p.F57L), and 1306C>G (p.L436V) were successfully identified. All the missense mutations were not detected in 100 unaffected ethnic‐matched control chromosomes and have never been previously reported. The p.Q49X and p.F57L mutations were located in the highly conserved DNA binding domain while the p.L436V was located at the carboxy‐terminal region. This study reported an undescribed clinical feature of VWS and three novel mutations, expanding the phenotypic spectrum of VWS and mutational spectrum of IRF6.

Spontaneous closure of bony defect in a frontoethmoidal encephalomeningocele patient.

The frontoethmoidal encephalomeningocele (FEEM) is a congenital herniation of meninges and brain tissue through the skull bony defect at the foramen cecum. The size of the defect may vary from a few millimeters to many. Those patients with a small defect may not always require a risky operation during childhood. We report on an infant whose bony defect has closed spontaneously with definite clinical evidence. It is proved that the skull defect and brain herniation are able to heal naturally, and this affirms an existence of the abortive subtype of FEE. Conservative treatment may be considered in those with a small bony defect, and surgery can be considered later when it is required.

PTPRF is disrupted in a patient with syndromic amastia

BackgroundThe presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences.MethodsCharacterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis.ResultsWe enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F gene (PTPRF). While the patients mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRFs RNA and protein of the patient were significantly less than those of her unaffected family members.ConclusionsAlthough ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.

Cadaveric study of the nasal periosteum and implant position after augmentation rhinoplasty.

Abstract Augmentation rhinoplasty is one of the most common cosmetic procedures done in Asia. A technique believed to be helpful in reducing complications is subperiosteal placement of silicone implant. A deeply placed implant should benefit from having thicker soft tissue coverage. Tough periosteal tissue is hoped to provide better implant fixation and prevent undesirable mobility. Experienced surgeons often claim that they can preserve the nasal periosteum and achieve complete implant coverage via nasal rim incision(s). However, success of implant placement and preservation of periosteal integrity after nasal augmentation has never been studied before. Nose augmentation with silicone implant was conducted in 12 fresh cadavers with the closed technique used in real practice. Open dissection of the nose was then carried out to verify implant position and the integrity of the periosteum. Factors that could affect the outcomes, including blade sizes of periosteal elevators, use of Aufricht retractor, and surgeon’s experience, were analyzed. We found that all silicones could be implanted in the subperiosteal plane independent of instruments, surgeon’s technique, and experience. Nonetheless, the covering nasal periosteum was always torn at its periphery and disconnected from the surrounding bone. As a result, lateral sides of the inserted silicones were not immediately covered with the periosteum. In conclusion, the surgeon’s experience, the size of the periosteal elevator, and the Aufricht retractor did not affect the success of implant placement in the subperiosteal plane. Periosteal coverage was always incomplete and did not provide immediate implant fixation as previously understood.

Quantitative study of new bone formation in distraction osteogenesis of craniofacial bones by bone scintigraphy.

Although distraction osteogenesis is widely accepted as a technique to augment the craniofacial skeleton, timing to start distraction after an osteotomy or to remove distractors is basically based on studies on long bones. Because bone scintigraphy is well known to be the gold standard for quantitative measurement of bone formation, we conducted this pilot study to evaluate its feasibility as a tool for assessing new bone formation by distraction osteogenesis. Five patients with midface hypoplasia and four with mandibular hypoplasia were studied. Each patient had five bone scans: before surgery, 3 and 30 days after stopping distraction, and 3 days before and 3 months after distractor removal. Radiotracer uptake values at distraction sites were measured at 1 and 3 hours. Each uptake value was compared with preoperative study as uptake ratio. A typical pattern of radiotracer uptake ratio was observed in all cases with successful distraction. Uptake rose to the maximum during the consolidation period and remained at or above the preoperative level until the study end point. In one patient who had mandibular distraction and nonunion of the right ramus, there was no uptake peak during early consolidation as seen in the successfully distracted body and in the other cases. Bone scintigraphy was found to be a useful investigation in craniofacial distraction. It showed the dynamic of new bone formation by demonstrating the osteoblastic activity, which is important objective information for determining distraction rate and consolidation duration in each case. It may also be a tool that can predict the outcome of distraction osteogenesis.

Combined Intralesional Neodymium-Doped Yttrium Aluminium Garnet Laser and Intratumoral Ligation as Curative Treatment for Craniofacial Arteriovenous Malformations.

AbstractCraniofacial arteriovenous malformation (AVM), although very rare, has been a very difficult problem to treat especially when it is large and involves important structures. Surgical resection often results in unacceptable complications but still not curative. At our institution, treatment by combined intralesional neodymium-doped yttrium aluminium garnet laser and intratumoral ligation has been successful in venous malformation. This minimally invasive technique was then applied to more challenging AVM on the head and neck. Disease control was studied using clinical parameters and magnetic resonance imaging.Four patients with moderate-to-severe (Schobinger 2–4) craniofacial AVM were treated by this technique from 2001 to 2011. Patient age ranged from 2 to 51 years (mean: 25 years). After 2 to 4 treatments and follow-up period of 1456 days, 3 (75%) were cured. One of them was infant with huge mass and secondary pulmonary hypertension. Clinical cure was achieved after 3 treatments without residual cardiovascular compromise. The other patient (25%) had cheek mass with intraorbital involvement. The authors did not treat periorbital lesion so as to avoid triggering intraorbital spreading. The rest of the cheek lesion was clinically and radiologically cured.Laser energy setting, ablative technique, and skin cooling are the main factors determining the success. Individualized laser settings and properly set endpoints can increase treatment effectiveness in shorter period. In conclusion, this minimally invasive technique was successful in curing AVM without complication. With more clinical study and development of soft tissue monitoring tools, it is possible that intralesional laser could become the treatment of choice for all cutaneous AVM.

Normal palatal sutures in newborns and fetuses: a critical fact for successful palatal distraction.

Distraction osteogenesis (DO) has recently been applied to the palate. Successful posterior lengthening and medial advancement of the palates was continuously reported. Based on these studies, it is obvious that DO will play a major role in the management of problems related to palatal defects in the near future. Although the results are appealing, they may not be applicable for humans due to anatomic differences. All experimental studies used normal palatal sutures of young dogs for size expansion. Therefore, it is necessary to know normal palatal sutures in infants before one can clinically apply this new technique. With consent, palates of fetuses and neonates who died of various causes were examined. Eight fresh cadavers were available for the dissection, with two being skeletonized using the boiling process. There were three fetal deaths in utero (33–41 weeks of gestational age) and five postnatal deaths (aged between 5 hours and 6 months). All specimens were grossly normal in shape and size except for one with a unilateral complete cleft of lip and palate. A midline palatal suture was found in every noncleft specimen, while premaxillary and transverse palatomaxillary sutures were present in every specimen. Laterally, there was no true suture except for the most posterior portion, which was contiguous with the greater palatine foramen. The palatal sutures of third-trimester fetuses and neonates are not different from adult ones. There is no lateral suture that will allow distraction in the medial direction. It is only the posterior hard palate (palatine bones) that can potentially be moved medially and posteriorly by sutural expansion with DO.