Prader--Willi syndrome: 16-year experience in Hong Kong

Prader-Willi syndrome(PWS) is an important,wellrecognized syndromic form of neurodevelopmental disorder. The incidence is about 1 in 15,000-25,000 live births,and it affects both males and females(Vogels et al.,2004).The underlying genetic defects occur at an imprinted region on chromosome 15q11-13.Within this region,some genes only express on the maternally inherited chromosome 15,like UBE3A and ATP10C;while other genes only express on the paternally inherited chromosome 15,like MKRN3,MAGEL2, NDN,C15orf2,SNURF-SNRPN,and a number of small     

Orbitoblepharophimosis syndrome: a 16-year perspective

The orbitoblepharophimosis syndrome is a congenital malformation of the orbitopalpebral region. It is an autosomal-dominant condition typified by palpebral and orbital phimosis, ptosis, epicanthus inversus with telecanthus, and enophthalmia. It has three forms: minor, major, and extreme. It is a rare malformation affecting both sexes. The gene responsible is 3q21-24. Surgical treatment involves three to four operations: orbital remodeling by burring and grafting (intraorbital and extraorbital), epicanthus correction, and ptosis operation. Results varied depending on the severity of the form and the quality of the tissues. The authors present a series of 50 patients who were treated for this syndrome over the past 16 years.     

Refinements in pollicization: a 30-year experience

The thumb is a specialized organ with unique functions that cannot be replicated by any other digit. The most powerful technique for construction or reconstruction of a lost or missing thumb is index finger pollicization. In this article, the authors outline five technical refinements in this procedure that have evolved over the past 30 years in 313 cases. These refinements improve appearance and function, and include (1) modification of the incisions to produce a well-contoured web space, (2) metacarpal head positioning for optimal recreation of the carpal arch, (3) extrinsic tendon repositioning for improved pronation of the new thumb, (4) intrinsic tendon repositioning for maximal strength, and (5) thenar augmentation with an adipofascial flap in select cases for improved appearance.     

Cardiac allografts: a 24-year South African experience

The history of using homologous cardiac valves dates back more than 30 years. Through the years emphasis was placed on the optimization of graft retrieval, preservation techniques and clinical application. A cardiac homograft valve bank was established at the Department of Cardiothoracic Surgery, University of the Free State, Bloemfontein in 1982. A retrospective analysis was performed on all allograft data since 1984. Since the first valve was successfully procured and transplanted in 1984, 2,540 aortic and pulmonary homografts were harvested from 1,792 donors, of which 1,545 [989 (64%) aortic and 556 (36%) pulmonary] were released for clinical use. Valves were discarded for various reasons, the main reasons being Human Immunodeficiency Virus (32.4%), Hepatitis B (9.6%) and venereal diseases (8.9%). The mean donor age was 26.98 years with a male predominance of 1,368 males versus 424 females. The average ischemic time was 33 h mainly due to medico-legal autopsies exceeding the desired 24 h time limit. The valves were disinfected in an antibiotic cocktail of Mefoxin, Piperacillin, Amikacin and Amphotericin B prior to cryopreservation. The surgical procedures utilizing the majority of homografts were aortic valve replacements (42.9%), aortic root replacements (19.3%) and right ventricular-pulmonary artery conduits (33.3%). The bank also supplied 23 other centers with homografts (402 aortic and 301 pulmonary). The Bloemfontein bank has established itself over the years as a viable and functional cardiac homograft bank. However, with increasing activity in the procurement arena and widened applications in the operating room the role of the homograft seems assured but availability still remains a major concern.     

Tay-Sachs disease carrier screening: a 21-year experience

This paper presents the findings of a community-based carrier screening program for Tay-Sachs disease, initiated on the University of Wisconsin-Madison campus in 1978. The Madison Community Tay-Sachs Screening Program (MCTSSP) is a collaborative, interdisciplinary program that organizes and conducts periodic screening for Tay-Sachs disease (TSD) for the purpose of identifying Tay-Sachs carriers. We present and analyze data on carrier detection with regard to various demographics, including family history of TSD, ancestry, gender, medication exposure, and illness. Individuals participating in the MCTSSP between 1978 and 1999 were primarily of the target population, and the carrier rate was within the expected range (1/25). Despite aggressive publicity efforts and a well-established program, attendance at the screens has declined. A recent survey of Jewish undergraduate students at the University of Wisconsin-Madison showed poor recall of family screen history and carrier status and reinforced the perception that utilization of the Madison screening program has been low. Ways to increase awareness of and interest in carrier screening for TSD are explored.     

Developmental biology in Ecuador: a 30-year teaching experience

Developmental biology has been taught at the Pontificia Universidad Católica del Ecuador, in Quito for 30 years by the author. The experience of teaching development is described within the broader context of science in Latin America. It is recognized that developmental biology is poorly represented in research and teaching in this part of the world. The teaching of developmental biology to Ecuadorian students contributes to their intellectual training, by helping them to integrate concepts derived from various branches of biology. Moreover, the highly conserved molecular mechanisms of development provide extraordinary examples of the unity of biology, and many complex biological processes can be more easily grasped when studying embryos.     

CT-guided stereotaxy: first 10-year experience

The authors present an overview on CT-guided stereotaxy performed in the last 10 years in the University Hospital Olomouc. During this period a total of 811 stereotactic brain operations were performed. Of these, 710 were done in the field of afunctional and 101 in the field of functional stereotaxy. The majority of procedures were biopsies of intracranial lesions (n = 464), evacuations of intracerebral hematomas with or without drainage and fibrinolysis (n = 147) and thalamotomies in patients with Parkinson's disease (n = 88). With the exception of the two years at the beginning, the number of yearly performed stereotaxies varied between 66-106 (mean, 86.9). Serious complications appeared after three procedures (0.37 %).     

Mandibular reconstruction with vascularized iliac crest: a 10-year experience

Since 1978, 35 patients have undergone mandibular reconstruction with vascularized iliac crest. During this time, the technique of raising and shaping the iliac crest has undergone a series of modifications. Initially, osteocutaneous segments based first on the superficial circumflex iliac system and later on the deep circumflex iliac system were used. More recently, only the inner table of the ilium has been employed, and where intraoral lining is required, an ulnar forearm free flap has been added. Thirty-two patients were reconstructed successfully. Of the three anastomotic failures, one bony segment was able to survive as a free graft. There were no donor-site complications. With continued experience, operative morbidity has been minimized, while the technique has been modified to tailor the reconstruction to the specific requirements of the patient. It is concluded that vascularized iliac crest provides the most appropriate mandibular reconstruction for a range of congenital and acquired defects.     

Meningitis in the central Arctic: a 4-year experience.

There were 37 cases of meningitis during a 4-year period among the native and white populations served by the Churchill Health Centre in northern Manitoba, an annual incidence of 128 per 100 000 in the overall population and of 202 per 100 000 among the Inuit. Bacterial meningitis predominated; Neisseria meningitidis and Haemophilus influenzae each accounted for one third of the cases. There were five deaths, and 14 of the survivors had severe sequelae. Therefore, although the doctors and nurses involved in the study had improved access to telecommunication and air transportation services in caring for patients in isolated northern settlements, and despite their efforts to be vigilant for possible cases of meningitis and to begin vigorous treatment early, the incidence, morbidity and mortality of this disease remained relatively high, particularly among the Inuit.     

Long-term use of polyurethane breast prostheses: a 14-year experience

I have used polyurethane prostheses for the past 14 years, implanting 220 implants into 130 patients who desired breast reconstruction after subcutaneous mastectomy or cancer ablation or simply breast augmentation. I theorize that a polyurethane-covered implant resists contracture, retaining its compressibility because the fibroblasts proliferate into the polyurethane in many different directions. When the fibrils contract, the forces of contracture counterbalance one another, resisting contracture. However, when smooth prostheses are implanted, fibrils are directed in a circular fashion around the implant and naturally contract, leading to firmer breasts. There were 115 prostheses inserted following subcutaneous mastectomy, and 22 percent developed contracted capsules. Seven implants became exposed because of skin necroses; one was removed because of a Staphylococcus infection; and two patients developed a combination of polyurethane and silicone granulomas. These developed only with the earlier implant, where there was shedding of the polyurethane sponge layer and silicone bled from the low-viscosity silicone used in the earlier implants. No granulomas were noted with the currently used Surgitek Replicon implant. Eighty-five breasts were reconstructed after cancer ablation with polyurethane implants, and the contracture rate was 2.3 percent. Other complications were minimal. A smaller group of patients had augmentation mammaplasty, and 20 prostheses were placed in 10 patients. A 15 percent contracture rate was noted in this group. In this study, 82 percent of patients were followed for up to 14 years. Capsular contractures occurred in 30 implants between 1 and 11 years, for an average recurrence at 6.3 years. The overall contracture rate was 13 percent. Other complications were minimal. All implants were placed subcutaneously or subglandularly, and all were drained.     

Digital glomus tumors: a 29-year experience with a lateral subperiosteal approach

The excision of distal digital glomus tumors has traditionally been performed directly over the involved nail bed. This can lead to nail deformities that are often unacceptable for the surgeon and the patient. The authors describe their experience with successful excision of digital glomus tumors using a lateral subperiosteal approach, which creates a dorsal flap. In 29 years, 19 patients were diagnosed with digital glomus tumors. All patients underwent excision using the lateral subperiosteal approach. The mean tumor size was 0.52 cm. The tumors were located on the pulp of the distal phalanx in two patients (10.5 percent) and subungually in 17 patients (89.5 percent). In all patients, preoperative clinical diagnosis was confirmed postoperatively with the biopsy result. Complications occurred in only two patients and included one paronychia and one temporary nail loss. The overall recurrence rate was 15.7 percent. All patients remained asymptomatic after surgery and regained full active and passive range of motion. There were no nail deformities by this approach. This technique represents a safe and effective approach to excising digital glomus tumors.     

Care of the degloved penis and scrotum: a 25-year experience

Injuries to the penis and scrotum are both physically and mentally traumatic. If poorly managed in the acute setting, these injuries may become long-term problems or permanent disabilities. The purpose of this study was to review our approach to degloving injuries of the penis and scrotum and to present our experience. Over the past 25 years, we have cared for eight patients with complete degloving injuries of the genitalia. Farm equipment accidents were responsible for the majority of injuries. We attempted to close all wounds of the denuded penis and near-total avulsed scrotum at the initial operative intervention using the method of repair described. Postoperatively, all patients had an acceptable appearance and normal mictural and erectile function. We conclude that degloving injuries of the penis and scrotum can be best treated with this approach definitively in the acute setting with successful functional and aesthetic results.     

Flap prefabrication in the head and neck: a 10-year experience

Tissue neovascularized by implanting a vascular pedicle can be transferred as a "prefabricated flap" based on the blood flow through the implanted pedicle. This technique potentially allows any defined tissue volume to be transferred to any specified recipient site, greatly expanding the armamentarium of reconstructive options. During the past 10 years, 17 flaps were prefabricated and 15 flaps were transferred successfully in 12 patients. Tissue expanders were used as an aid in 11 flaps. Seven flaps were prefabricated at a distant site and later transferred using microsurgical techniques. Ten flaps were prefabricated near the recipient site by either transposition of a local vascular pedicle or the microvascular transfer of a distant vascular pedicle. The prefabricated flaps were subsequently transferred as island pedicle flaps. These local vascular pedicles can be re-used to transfer additional neovascularized tissues. Common pedicles used for neovascularization included the descending branch of the lateral femoral circumflex, superficial temporal, radial, and thoracodorsal pedicles. Most flaps developed transient venous congestion that resolved in 36 to 48 hours. Venous congestion could be reduced by incorporating a native superficial vein into the design of the flap or by extending the prefabrication time from 6 weeks to several months. Placing a Gore-Tex sleeve around the proximal pedicle allowed for much easier pedicle dissection at the time of transfer. Prefabricated flaps allow the transfer of moderate-sized units of thin tissue to recipient sites throughout the body. They have been particularly useful in patients recovering from extensive burn injury on whom thin donor sites are limited.