Olfactory ensheathing cells from the olfactory bulb and olfactory mucosa have been tbund to increase axonal sprouting and pathfinding and promote the recovery of vibrissae motor performance in facial nerve transection...Olfactory ensheathing cells from the olfactory bulb and olfactory mucosa have been tbund to increase axonal sprouting and pathfinding and promote the recovery of vibrissae motor performance in facial nerve transection injured rats. However, it is not yet clear whether olfactory ensheathing cells promote the reparation of facial nerve defects in rats. In this study, a collagen sponge and silicone tube neural conduit was implanted into the 6-mm defect of the buccal branch of the facial nerve in adult rats. Olfactory ensheathing cells isolated from the olfactory bulb of newborn Sprague-Dawley rats were injected into the neural conduits connecting the ends of tile broken nerves, the morphology and function of the regenerated nerves were compared between the rats implanted with olfactory ensheathing cells with the rats injected with saline. Facial paralysis was assessed. Nerve electrography was used to measure facial nerve-induced action potentials. Visual inspection, anatomical microscopy and hematoxylin-eosin staining were used to assess the histomorphology around the trans planted neural conduit and the morphology of the regenerated nerve. Using fluorogold retrograde tracing, toluidine blue staining and lead uranyl acetate staining, we also measured the number of neurons in the anterior exterior lateral f：acial nerve motor nucleus, the number of myelinated nerve fibers, and nerve fiber diameter and myelin sheath thickness, respectively. After surgery, olfactory ensheathing cells de- creased facial paralysis and the latency of the facial nerve-induced action potentials. There were no differences in the general morphology of the regenerating nerves between the rats implanted with olfactory ensheathing cells and the rats injected with saline. Between-group results showed that olfactory ensheathing cell treatment increased the number of regenerated neurons, improved nerve fiber morphology, and increased the number of myelinated nerve fibers, nerve fiber diameter, and myelin sheath thickness. In conclusion, implantation of olfactory ensheathing cells can promote regeneration and functional recovery after facial nerve damage in rats.展开更多
Acellular nerve allografts conducted via chemical extraction have achieved satisfactory results in bridging whole facial nerve defects clinically,both in terms of branching a single trunk and in connecting multiple br...Acellular nerve allografts conducted via chemical extraction have achieved satisfactory results in bridging whole facial nerve defects clinically,both in terms of branching a single trunk and in connecting multiple branches of an extratemporal segment.However,in the clinical treatment of facial nerve defects,allogeneic donors are limited.In this experiment,we exposed the left trunk and multiple branches of the extratemporal segment in six rhesus monkeys and dissected a gap of 25 mm to construct a monkey model of a whole left nerve defect.Six monkeys were randomly assigned to an autograft group or a xenogeneic acellular nerve graft group.In the autograft group,the 25-mm whole facial nerve defect was immediately bridged using an autogenous ipsilateral great auricular nerve,and in the xenogeneic acellular nerve graft group,this was done using a xenogeneic acellular nerve graft with trunk-branches.Examinations of facial symmetry,nerve-muscle electrophysiology,retrograde transport of labeled neuronal tracers,and morphology of the regenerated nerve and target muscle at 8 months postoperatively showed that the faces of the monkey appeared to be symmetrical in the static state and slightly asymmetrical during facial movement,and that they could actively close their eyelids completely.The degree of recovery from facial paralysis reached House-Brackmann grade II in both groups.Compound muscle action potentials were recorded and orbicularis oris muscles responded to electro-stimuli on the surgical side in each monkey.Fluoro Gold-labeled neurons could be detected in the facial nuclei on the injured side.Immunohistochemical staining showed abundant neurofilament-200-positive axons and soluble protein-100-positive Schwann cells in the regenerated nerves.A large number of mid-graft myelinated axons were observed via methylene blue staining and a transmission electron microscope.Taken together,our data indicate that xenogeneic acellular nerve grafts from minipigs are safe and effective for repairing whole facial nerve defects in rhesus monkeys,with an effect similar to that of autologous nerve transplantation.Thus,a xenogeneic acellular nerve graft may be a suitable choice for bridging a whole facial nerve defect if no other method is available.The study was approved by the Laboratory Animal Management Committee and the Ethics Review Committee of the Affiliated Wuxi No.2 People's Hospital of Nanjing Medical University,China(approval No.2018-D-1)on March 15,2018.展开更多
Background: The US FDA has recently approved autologous cultured fibroblast cells (ACF) as treatment for cutaneous contour defects. ACF provides an alternative to synthetic fillers or fat grafting with the significant...Background: The US FDA has recently approved autologous cultured fibroblast cells (ACF) as treatment for cutaneous contour defects. ACF provides an alternative to synthetic fillers or fat grafting with the significant advantage of producing longer lasting effect. Methods: This was a prospective open label single group clinical study to demonstrate the clinical efficacy of ACF that we have replicated in our lab. The study enrolled 18 patients with nasolabial folds from 2 centres in Malaysia in 2011-2012. ACF at dose of 23 or 92 million cells were injected on 3 occasions at 4 weeks interval. Efficacy at 6- and 12-month post treatment was assessed using a standardized 7-point scale which was performed by the 2 investigators as well as a panel of 7 independent evaluators. Results: We obtained a successful outcome (primary endpoint), defined as improvement in the appearance of the nasolabial fold of at least 2 points on the 7-point scale, in 33% of patients as assessed by investigators at 12-month follow-up and in 22% of patients assessed by independent evaluators. Investigators also found 78% of patients having had a 1-point improvement from baseline while independent evaluators found 83% of patients having improved by as much. Patients were uniformly (100%) satisfied with the improvement in their appearance. No treatment-related adverse event was reported. Baseline score and follow-up duration had significant effect on treatment response. The greater the baseline severity and the longer the post-treatment follow-up, the better the response to ACF. Larger dose of cells (92 million cells) has little additional effect suggesting that the 1 mL dose (23 million cells) is near optimal. Older patients showed a trend towards poorer response but this was not statistically significant. Conclusions: We have successfully replicated the laboratory method and clinical procedure to perform ACF treatment which was effective in improving the appearance of nasolabial folds in some patients.展开更多
PURPOSE: To evaluate the results of facial-cervico-pectoral rotation flap (FRF) and temporalis myofascial flap (TMF) in the repair of large soft tissue defect in oral and maxillofacial regions. METHODS: Six patients w...PURPOSE: To evaluate the results of facial-cervico-pectoral rotation flap (FRF) and temporalis myofascial flap (TMF) in the repair of large soft tissue defect in oral and maxillofacial regions. METHODS: Six patients with malignant orbital tumors and/or maxillofacial tumors invading the orbital regions were treated with extensive resection. The major midfacial soft tissue defects were repaired by temporalis myofascial flap and facial-cervico-pectoral rotation flap. RESULTS: All flaps were successfully transferred; the result of facial aesthetics was satisfactory in all patients. Follow-up periods varied from 9 to 20 months (mean follow up period: 13.2 months) and all of the patients were alive during the follow-up period with one recurrence. CONCLUSIONS: The TMF and the FRF are easy to harvest, have low donor site morbidity, and are compatible with the principles of oncologic resection. It is the method of choice for repairing major orbito-maxillofacial skin defects following resection of the tumors.展开更多
Facial defect coverage is a common subject in the field of reconstructive surgery.There are many methods for facial defect reconstruction,and reconstructive surgeons should choose the most appropriate method on a case...Facial defect coverage is a common subject in the field of reconstructive surgery.There are many methods for facial defect reconstruction,and reconstructive surgeons should choose the most appropriate method on a case-by-case basis to achieve both functional and aesthetic improvement.Among various options for facial reconstruction,the local flap technique is considered the best reconstructive modality to provide good tissue matches of color and texture,which is consistent with the ideal goal of reconstruction(replacement of like-with-like).Keystone design perforator island flap(KDPIF),devised by Behan in 2003,has been applied to various fields of reconstructive surgery in the past decade due to its design simplicity,robust vascular supply,and reproducibility.Several studies have reported KDPIF reconstruction of facial defects,such as large parotid defects,small-to-moderate nasal defects,and eyelid defects.However,KDPIF has been used relatively less in facial defects than in other body regions,such as the trunk and extremities.The purpose of this review is to provide an organized overview of facial KDPIF reconstruction including the classification of KDPIF,modifications,physiology,mechanism of flap movement,consideration of facial relaxed skin tension lines and aesthetics,surgical techniques,clinical applications,and precautions for successful execution of KDPIF reconstruction.展开更多
Objective To discuss the application of semi-precision attachment in restoring a midfacial defect, including a nasal, upper lip, and anterior maxillary defect. Methods A splinted metal-ceramic crowns （from the upper ...Objective To discuss the application of semi-precision attachment in restoring a midfacial defect, including a nasal, upper lip, and anterior maxillary defect. Methods A splinted metal-ceramic crowns （from the upper right first molar to left molar） and a bar with stud attachments was done. A removable partial denture （RPD） containing the patrix portion of the attachment was then designed to restore the missing maxillary anterior teeth and alveolar ridge. Finally,, The facial prosthesis was joined to the denture utilizing two retentive metal posts on the superior aspect of the removable partial. Results A splinted metal-ceramic crowns （from the upper right frst molar to left molar） and a bar with stud attachments was done. A RPD containing the patrix portion of the attachment was then designed to restore the missing maxillary anterior teeth and alveolar ridge. Finally, The facial prosthesis was joined to the denture utilizing two retentive metal posts on the superior aspect of the removable partial. The prosthesis markedly improved the appearance of the patient and demonstrated good retention. Conclusion Using attachment in restoring rnaxillofacial defect may provide adequate retetion which lead to a sucessful treatment outcome.展开更多
Facial prostheses have developed significantly in the last 10 years,especially between 2016 and 2021.This development is mainly due to the great progress made in the fields of biocompatible materials,digital technolog...Facial prostheses have developed significantly in the last 10 years,especially between 2016 and 2021.This development is mainly due to the great progress made in the fields of biocompatible materials,digital technology,and three-dimensional printing technology,which provides guarantee for low allergy,high biosimulation,comfort,and satisfactory usability.Treatment teams typically consist of plastic surgeons,material experts,engineers,and computer scientists who have extensive clinical experience.These teams successfully implement an integrated,multidisciplinary model by prioritizing the reasonable expectations of both the physician and patient,leading to improved patient satisfaction and compliance with prosthetic constraints.This study aimed to review the concept,development status,existing problems,and future of facial prosthesis.展开更多
To report a method of repair facial skin defects with a skin flap of SMAS pedicle.Methods According to the size of defect of skin,design a skin flap with SMAS pedicle for repair of defect.Results The method has been s...To report a method of repair facial skin defects with a skin flap of SMAS pedicle.Methods According to the size of defect of skin,design a skin flap with SMAS pedicle for repair of defect.Results The method has been successfully applied for skin defects of eyelid and lip in 14 cases with satisfied results.The area of the largest flap was 5 cm×3 cm.Conclusion Repairing facial defects such as eyelid skin defect or lip skin defect with skin flap of SMAS pedicle is a very good method.The flap has a good blood supporting and satisfactory color and flexibility.5 refs,6 figs.展开更多
Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screenin...Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management.展开更多
To treat large facial defect (more than 6 cm×4 cm in diameter ) or a wound with bone exposure to atmosphere by less traumatic, easier healing reconstruction method, a pedicle flap including facial, neck, poster...To treat large facial defect (more than 6 cm×4 cm in diameter ) or a wound with bone exposure to atmosphere by less traumatic, easier healing reconstruction method, a pedicle flap including facial, neck, posterior auricle and occipital skin flap was designed and transferred, one by one, to repair facial defect as well as other flap donor sites, but occipital skin flap was only used to cover posterior auricle area. After 2-3 years follow up, well healed skin flaps with good color, elasticity and sensation were observed in all 16 patients. It is concluded that this method is effective and practical.展开更多
In young patients, even small circular facial defects after the excision of benign skin tumors present a reconstructive challenge. The usefulness of a V-Y advancement flap for reconstructing such defects is well docum...In young patients, even small circular facial defects after the excision of benign skin tumors present a reconstructive challenge. The usefulness of a V-Y advancement flap for reconstructing such defects is well documented. We refined this technique as a mini V-Y advancement flap consisting of two subcutaneous pedicles that vascularize the skin island via subdermal plexus lateral bridges. This technique was used for 21 middle-aged or younger patients with a small benign skin lesion. None of them experienced any postoperative complications. Aesthetically excellent results were found in all patients. This small advancement flap could be attempted as an alternative to fusiform excision of small skin lesions, particularly in younger patients.展开更多
基金supported by the Foundation for Military Medicine,China,No.BWS11J035(to JPF)the Key Disciplines Group Construction Project of Pudong Health Bureau of Shanghai of China,No.PWZxq2017-09(to XPC and JPF)
文摘Olfactory ensheathing cells from the olfactory bulb and olfactory mucosa have been tbund to increase axonal sprouting and pathfinding and promote the recovery of vibrissae motor performance in facial nerve transection injured rats. However, it is not yet clear whether olfactory ensheathing cells promote the reparation of facial nerve defects in rats. In this study, a collagen sponge and silicone tube neural conduit was implanted into the 6-mm defect of the buccal branch of the facial nerve in adult rats. Olfactory ensheathing cells isolated from the olfactory bulb of newborn Sprague-Dawley rats were injected into the neural conduits connecting the ends of tile broken nerves, the morphology and function of the regenerated nerves were compared between the rats implanted with olfactory ensheathing cells with the rats injected with saline. Facial paralysis was assessed. Nerve electrography was used to measure facial nerve-induced action potentials. Visual inspection, anatomical microscopy and hematoxylin-eosin staining were used to assess the histomorphology around the trans planted neural conduit and the morphology of the regenerated nerve. Using fluorogold retrograde tracing, toluidine blue staining and lead uranyl acetate staining, we also measured the number of neurons in the anterior exterior lateral f：acial nerve motor nucleus, the number of myelinated nerve fibers, and nerve fiber diameter and myelin sheath thickness, respectively. After surgery, olfactory ensheathing cells de- creased facial paralysis and the latency of the facial nerve-induced action potentials. There were no differences in the general morphology of the regenerating nerves between the rats implanted with olfactory ensheathing cells and the rats injected with saline. Between-group results showed that olfactory ensheathing cell treatment increased the number of regenerated neurons, improved nerve fiber morphology, and increased the number of myelinated nerve fibers, nerve fiber diameter, and myelin sheath thickness. In conclusion, implantation of olfactory ensheathing cells can promote regeneration and functional recovery after facial nerve damage in rats.
基金financially supported by the National Natural Science Foundation of China,No.81770990(to GCZ)Jiangsu Provincial Key Research and Development Program of China,No.BE2018628(to GCZ)+2 种基金Six Talent Peaks Project in Jiangsu Province of China,No.2019-WSW-141(to GCZ)Major Medicine Projects of Wuxi Health Commission of Jiangsu,China,No.Z201802(to DJX)Precision Medicine Projects of Wuxi Health Commission of Jiangsu,China,No.J202002(to GCZ)。
文摘Acellular nerve allografts conducted via chemical extraction have achieved satisfactory results in bridging whole facial nerve defects clinically,both in terms of branching a single trunk and in connecting multiple branches of an extratemporal segment.However,in the clinical treatment of facial nerve defects,allogeneic donors are limited.In this experiment,we exposed the left trunk and multiple branches of the extratemporal segment in six rhesus monkeys and dissected a gap of 25 mm to construct a monkey model of a whole left nerve defect.Six monkeys were randomly assigned to an autograft group or a xenogeneic acellular nerve graft group.In the autograft group,the 25-mm whole facial nerve defect was immediately bridged using an autogenous ipsilateral great auricular nerve,and in the xenogeneic acellular nerve graft group,this was done using a xenogeneic acellular nerve graft with trunk-branches.Examinations of facial symmetry,nerve-muscle electrophysiology,retrograde transport of labeled neuronal tracers,and morphology of the regenerated nerve and target muscle at 8 months postoperatively showed that the faces of the monkey appeared to be symmetrical in the static state and slightly asymmetrical during facial movement,and that they could actively close their eyelids completely.The degree of recovery from facial paralysis reached House-Brackmann grade II in both groups.Compound muscle action potentials were recorded and orbicularis oris muscles responded to electro-stimuli on the surgical side in each monkey.Fluoro Gold-labeled neurons could be detected in the facial nuclei on the injured side.Immunohistochemical staining showed abundant neurofilament-200-positive axons and soluble protein-100-positive Schwann cells in the regenerated nerves.A large number of mid-graft myelinated axons were observed via methylene blue staining and a transmission electron microscope.Taken together,our data indicate that xenogeneic acellular nerve grafts from minipigs are safe and effective for repairing whole facial nerve defects in rhesus monkeys,with an effect similar to that of autologous nerve transplantation.Thus,a xenogeneic acellular nerve graft may be a suitable choice for bridging a whole facial nerve defect if no other method is available.The study was approved by the Laboratory Animal Management Committee and the Ethics Review Committee of the Affiliated Wuxi No.2 People's Hospital of Nanjing Medical University,China(approval No.2018-D-1)on March 15,2018.
文摘Background: The US FDA has recently approved autologous cultured fibroblast cells (ACF) as treatment for cutaneous contour defects. ACF provides an alternative to synthetic fillers or fat grafting with the significant advantage of producing longer lasting effect. Methods: This was a prospective open label single group clinical study to demonstrate the clinical efficacy of ACF that we have replicated in our lab. The study enrolled 18 patients with nasolabial folds from 2 centres in Malaysia in 2011-2012. ACF at dose of 23 or 92 million cells were injected on 3 occasions at 4 weeks interval. Efficacy at 6- and 12-month post treatment was assessed using a standardized 7-point scale which was performed by the 2 investigators as well as a panel of 7 independent evaluators. Results: We obtained a successful outcome (primary endpoint), defined as improvement in the appearance of the nasolabial fold of at least 2 points on the 7-point scale, in 33% of patients as assessed by investigators at 12-month follow-up and in 22% of patients assessed by independent evaluators. Investigators also found 78% of patients having had a 1-point improvement from baseline while independent evaluators found 83% of patients having improved by as much. Patients were uniformly (100%) satisfied with the improvement in their appearance. No treatment-related adverse event was reported. Baseline score and follow-up duration had significant effect on treatment response. The greater the baseline severity and the longer the post-treatment follow-up, the better the response to ACF. Larger dose of cells (92 million cells) has little additional effect suggesting that the 1 mL dose (23 million cells) is near optimal. Older patients showed a trend towards poorer response but this was not statistically significant. Conclusions: We have successfully replicated the laboratory method and clinical procedure to perform ACF treatment which was effective in improving the appearance of nasolabial folds in some patients.
文摘PURPOSE: To evaluate the results of facial-cervico-pectoral rotation flap (FRF) and temporalis myofascial flap (TMF) in the repair of large soft tissue defect in oral and maxillofacial regions. METHODS: Six patients with malignant orbital tumors and/or maxillofacial tumors invading the orbital regions were treated with extensive resection. The major midfacial soft tissue defects were repaired by temporalis myofascial flap and facial-cervico-pectoral rotation flap. RESULTS: All flaps were successfully transferred; the result of facial aesthetics was satisfactory in all patients. Follow-up periods varied from 9 to 20 months (mean follow up period: 13.2 months) and all of the patients were alive during the follow-up period with one recurrence. CONCLUSIONS: The TMF and the FRF are easy to harvest, have low donor site morbidity, and are compatible with the principles of oncologic resection. It is the method of choice for repairing major orbito-maxillofacial skin defects following resection of the tumors.
文摘Facial defect coverage is a common subject in the field of reconstructive surgery.There are many methods for facial defect reconstruction,and reconstructive surgeons should choose the most appropriate method on a case-by-case basis to achieve both functional and aesthetic improvement.Among various options for facial reconstruction,the local flap technique is considered the best reconstructive modality to provide good tissue matches of color and texture,which is consistent with the ideal goal of reconstruction(replacement of like-with-like).Keystone design perforator island flap(KDPIF),devised by Behan in 2003,has been applied to various fields of reconstructive surgery in the past decade due to its design simplicity,robust vascular supply,and reproducibility.Several studies have reported KDPIF reconstruction of facial defects,such as large parotid defects,small-to-moderate nasal defects,and eyelid defects.However,KDPIF has been used relatively less in facial defects than in other body regions,such as the trunk and extremities.The purpose of this review is to provide an organized overview of facial KDPIF reconstruction including the classification of KDPIF,modifications,physiology,mechanism of flap movement,consideration of facial relaxed skin tension lines and aesthetics,surgical techniques,clinical applications,and precautions for successful execution of KDPIF reconstruction.
基金grant of Shanghai Leading Academic Discipline Fund(T0202)
文摘Objective To discuss the application of semi-precision attachment in restoring a midfacial defect, including a nasal, upper lip, and anterior maxillary defect. Methods A splinted metal-ceramic crowns （from the upper right first molar to left molar） and a bar with stud attachments was done. A removable partial denture （RPD） containing the patrix portion of the attachment was then designed to restore the missing maxillary anterior teeth and alveolar ridge. Finally,, The facial prosthesis was joined to the denture utilizing two retentive metal posts on the superior aspect of the removable partial. Results A splinted metal-ceramic crowns （from the upper right frst molar to left molar） and a bar with stud attachments was done. A RPD containing the patrix portion of the attachment was then designed to restore the missing maxillary anterior teeth and alveolar ridge. Finally, The facial prosthesis was joined to the denture utilizing two retentive metal posts on the superior aspect of the removable partial. The prosthesis markedly improved the appearance of the patient and demonstrated good retention. Conclusion Using attachment in restoring rnaxillofacial defect may provide adequate retetion which lead to a sucessful treatment outcome.
文摘Facial prostheses have developed significantly in the last 10 years,especially between 2016 and 2021.This development is mainly due to the great progress made in the fields of biocompatible materials,digital technology,and three-dimensional printing technology,which provides guarantee for low allergy,high biosimulation,comfort,and satisfactory usability.Treatment teams typically consist of plastic surgeons,material experts,engineers,and computer scientists who have extensive clinical experience.These teams successfully implement an integrated,multidisciplinary model by prioritizing the reasonable expectations of both the physician and patient,leading to improved patient satisfaction and compliance with prosthetic constraints.This study aimed to review the concept,development status,existing problems,and future of facial prosthesis.
文摘To report a method of repair facial skin defects with a skin flap of SMAS pedicle.Methods According to the size of defect of skin,design a skin flap with SMAS pedicle for repair of defect.Results The method has been successfully applied for skin defects of eyelid and lip in 14 cases with satisfied results.The area of the largest flap was 5 cm×3 cm.Conclusion Repairing facial defects such as eyelid skin defect or lip skin defect with skin flap of SMAS pedicle is a very good method.The flap has a good blood supporting and satisfactory color and flexibility.5 refs,6 figs.
文摘Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management.
文摘To treat large facial defect (more than 6 cm×4 cm in diameter ) or a wound with bone exposure to atmosphere by less traumatic, easier healing reconstruction method, a pedicle flap including facial, neck, posterior auricle and occipital skin flap was designed and transferred, one by one, to repair facial defect as well as other flap donor sites, but occipital skin flap was only used to cover posterior auricle area. After 2-3 years follow up, well healed skin flaps with good color, elasticity and sensation were observed in all 16 patients. It is concluded that this method is effective and practical.
文摘In young patients, even small circular facial defects after the excision of benign skin tumors present a reconstructive challenge. The usefulness of a V-Y advancement flap for reconstructing such defects is well documented. We refined this technique as a mini V-Y advancement flap consisting of two subcutaneous pedicles that vascularize the skin island via subdermal plexus lateral bridges. This technique was used for 21 middle-aged or younger patients with a small benign skin lesion. None of them experienced any postoperative complications. Aesthetically excellent results were found in all patients. This small advancement flap could be attempted as an alternative to fusiform excision of small skin lesions, particularly in younger patients.
