Genotype-phenotype associations in microtia: a systematic review.

BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. RESULT: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). CONCLUSIONS: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.

Treatment of extended comminuted mandibular fractures with infected cutaneous fistule Post-ORIF using a reconstruction plate: A case report.

Introduction: We report a case of an extended comminuted mandibular fracture using a reconstruction plate, miniplates and arch bar. Cases of extended comminuted mandibular fractures report high rates of complications. In this case, the patient subsequently suffered from an infected cutaneous fistule and non-union of the comminuted segments. Case report: An 18-year old male arrived at the emergency room after a motorcycle accident with extensive comminuted mandibular fractures extending bilaterally with splitting at the mandibular angle and shattered bony fragments of the alveolus and mandible body. ORIF was performed using a locking reconstruction plate, miniplates and screw followed by maxillomandibular fixation using the arch-bar. Two weeks after the operation, a cutaneous fistule formed in the submental region. After multiple local debridements with little improvement, surgical debridement was done and a small comminuted bone fragment that underwent nonunion was removed. Final evaluation of the patient showed optimal results with satisfactory masticatory function and an acceptable anatomical shape of the lower jaw. Discussion: Extensively comminuted mandibular fractures are known to be difficult to manage. Although the controversy between open versus closed reduction of comminuted mandibular fractures remain, advancements in surgical techniques and equipment has shifted towards open reduction and internal fixation, allowing for better and faster anatomical and functional restoration. Conclusion: ORIF should be the treatment of choice in extended comminuted mandibular fractures. A mandibular reconstruction plate can be used to achieve a good results with a relatively faster return of function. Although the incidence of infection in mandibular fractures is high, adequate debridement and plate removal can bring good results as seen in this case. Shifting from closed to open reduction allows the patient to have faster results with less complications in the future.

The use of Indonesian randu honey for chronic wounds in a patient with uncontrolled type 2 diabetes mellitus: A case report.

INTRODUCTION AND IMPORTANCE: Honey has been recorded as having healing properties at a low cost. Many studies have been conducted related to Manuka honey, but studies about Indonesian randu honey are still limited. We report the use of Indonesian randu honey as a wound dressing on non-pressure chronic skin ulcers in uncontrolled T2DM patient. CASE PRESENTATION: A 54-year-old man with uncontrolled T2DM came with an unrecovered wound. A thorough inspection revealed several exposed bones, tendons, muscles, and meniscus in the left lower leg region. It was supposed to be amputated, but he declined. He received insulin, debridement, STSG, and a combination of Indonesian randu honey dressing and VAC on the exposed wound before and after the debridement and STSG. There was skin graft lysis, and we intended to do another surgery, but he preferred to be an outpatient. As an outpatient, he received honey wound dressing and insulin. After 1.5 years, the wound was fully closed, and he could walk with the help of a walking stick. CLINICAL DISCUSSION: Treatment for multiple exposed bones, tendons, and muscles in uncontrolled T2DM patient are complex. Studies reported that Indonesian honey could provide an antibacterial effect, cost-efficiency, speed up wound healing with no side effects, and no physical-chemical properties differences compared to Manuka honey. CONCLUSION: Using Indonesian randu honey as wound dressing could stimulate wound healing with no side effects in chronic wounds with uncontrolled T2DM that were supposed to be amputated. However, it took several months for the wound to fully close.

Invasive maxillary aspergillosis in a patient with systemic lupus erythematosus: Case report.

INTRODUCTION: Invasive aspergillosis (IA) is a fungal infection caused by Aspergillus species (spp.). Aspergillosis is the most common source of opportunistic fungal infection in humans. IA can cause serious complications related to high morbidity and mortality in immunocompromised patients. PRESENTATION OF CASE: We report a case of a 22-year-old female with a chief complaint of having a hole in the roof of her mouth. She was diagnosed with SLE in 2009. She had been consuming oral methylprednisolone ever since. In 2018, she experienced worsened symptoms and was hospitalized. She experienced swelling and bleeding of her gums and some of her teeth becoming loose and falling out, and then developing a hole in the roof of her mouth. Subsequently, she was treated with oral cyclophosphamide, oral mycophenolate sodium, and oral fluconazole. She was asked to stop taking oral methylprednisolone. In 2019, the palate biopsy was performed and showed Aspergillus spp. invading the palate. Afterward, the patient was referred to our clinic for defect closure. The patient was operated on for debridement and reconstruction of the defect. There was no recurrence of the defect or complications observed in the follow-up. The patient was satisfied with the surgical results. DISCUSSION: IA is a destructive and potentially harmful opportunistic fungal infection and treatments with surgical interventions should be well-thought-out in immunocompromised patients. CONCLUSION: The management of IA are controlling any underlying diseases and surgical debridement or necrotomy. Generally, antifungal therapy and prompt surgical intervention are successful in managing invasive aspergillosis.

Integrated propranolol, methylprednisolone, and surgery in managing a rare case of infantile hemangioma with concurrent cleft lip and palate.

Infantile hemangioma (IH) with concurrent cleft lip and palate is a rare case. Surgical management is often considered as the best management for infantile hemangioma with concurrent cleft lip and palate. However, considering the functionality aspect and aesthetic appearance, a plastic surgeon can also consider non-surgical management without interrupting the surgical timeline for the cleft lip and palate. This case report aimed to describe the role of oral propranolol and oral methylprednisolone for infantile hemangioma with concurrent cleft lip and palate alongside the surgical management for cleft lip and palate. A 2-month-old presented with complaints of swelling in her right upper nose and cheek along with cleft lip and palate. She was treated with oral propranolol and oral methylprednisolone. Labioplasty was performed when she was three months old. Palatoplasty and nasorraphy were done when she was one year old. A significant reduction of the hemangioma was seen and the corrective procedures showed a good result. The use of propranolol and methylprednisolone for infantile hemangioma in our patient shows a good result even when combined with labioplasty, palatoplasty, and nasorraphy for cleft lip and palate. The management of infantile hemangioma with concurrent cleft lip and palate using oral propranolol and oral methylprednisolone shows a good result with no side effects and can be elaborated with labioplasty, palatoplasty, and nasorraphy, and will not interrupt the cleft lip and palate surgical timeline.