Evaluation of maxillary alveolar ridge formation and ridge continuity after secondary alveolar bone grafting using cancellous and cortico-cancellous bone graft in unilateral cleft alveolus using cone beam computed tomographic scan - a randomized controlled trial.

PURPOSE: The aim of present study was to compare and evaluate the maxillary alveolar ridge formation and ridge continuity using cancellous and corticocanellous bone graft harvested from anterior iliac crest for complete secondary unilateral cleft alveolus defects. MATERIAL AND METHOD: All patients were randomized into two groups for secondary alveolar bone grafting. Group I (n = 10) patients treated with cancellous particulate bone graft and group II (n = 10) patients treated with cortico-cancellous block graft. Maxillary alveolar ridge bone formation was assessed with the help of cone beam computed tomography (CBCT) scan using Planmeca Romexis Viewer 5.0 software. Maxillary alveolar ridge continuity was assessed with axial section of CBCT scan and clinical occlusal photograph. Preoperative CBCT scan and occlusal photographs were compared with post-op 6-month CBCT scan and occlusal photographs. RESULT: The mean preoperative volume of cleft defect in group I was 4.2576 cm3 whereas in group II it was 4.2268 cm3. The mean postoperative bone bridge formation after 6 months in group I was 4.055 cm3 whereas in group II it was 3.8103 cm3. Preoperative and 6-month postoperative axial sections of CBCT scans were compared and 100% maxillary alveolar ridge continuity was achieved in both groups. The preoperative and postoperative occlusal photographs of both the groups were compared and showed accurate bone and well aligned maxillary alveolar ridge formation in all patients. CONCLUSION: The present study concluded that maxillary alveolar ridge formation rate is less in cortico-cancellous iliac crest block graft compared to cancellous iliac crest particulate graft, but is equally good as cancellous bone graft. CLINICAL TRIAL REGISTRATION NO: (REF/2020/09/031605)/ CTRI/ 2020/09/028001.

Outcome of Open Surgery in Disease Progression of Post-COVID Rhinomaxillary Mucormycosis Treated by Functional Endoscopic Sinus Surgery and Proposed Evaluation Scale for Maxillary Sinus Disease and Osteomyelitis.

Introduction: Rhinomaxillary Mucormycosis (RMM) is a condition peculiarly seen as post-COVID-19 opportunistic infections with Maxillary Sinus Disease and Osteomyelitis (MSDO). The open method of debridement and closed method are two types of surgical modalities available. There is no scoring method for this infection in maxilla. This paper aims to study the clinical and CT-based outcome of open versus closed surgery of MSDO in post-COVID-19 RMM and propose a new scoring method to evaluate the disease severity, progression as well as recovery. Material and Methods: Symptomatic cases of RMM (n = 17) with a history of closed surgical treatment were enrolled for this prospective clinical study. These cases were then treated by medicinal and open surgical method. The clinical and CT scan outcomes were compared by proposed new scoring method.The CT-based score for Maxillary Sinus Disease (MSD) and Maxillary Osteomyelitis (MO) from pre-FESS (CT1), Post-FESS (Preoperative, CT2), and Post-operative (CT3) were compared for both right and left sides. One-way ANOVA test and post HOC tests were used for statistical evaluation. Conclusion: The open method of maxillary sinus surgery has given significant improvement in the treatment of RMM already treated by a closed endoscopic approach. Supplementary Information: The online version contains supplementary material available at 10.1007/s12663-022-01803-5.

Anti-fungal therapy: An overview for maxillofacial surgeons in post-covid-19 fungal infections.

India is well known as the diabetes "capital" of the world but now it is also becoming the mucormycosis "capital" of the world. Indian Council of Medical Research has formed an "Evidence-Based Advisory in The Time of COVID-19 on Screening, Diagnosis, and Management of Mucormycosis." As per this advisory, an oral and maxillofacial surgeon forms an integral part of the team dedicated to fight this epidemic of mucormycosis. Also, there are other fungal infections such as aspergillosis which are getting reported in these patients affecting the paranasal sinuses and the jaws. Aggressive surgical debridement and a thorough knowledge of anti-fungal therapy are must in treating these fungal infections. The aim of this article is to give an overview on the available anti-fungal therapy required to manage the ever-increasing rise in fungal infections faced by maxillofacial surgeons in post-COVID-19 patients.

Comparative analysis of genome-wide DNA methylation identifies patterns that associate with conserved transcriptional programs in osteosarcoma.

Osteosarcoma is an aggressive tumor of the bone that primarily affects young adults and adolescents. Osteosarcoma is characterized by genomic chaos and heterogeneity. While inactivation of tumor protein p53 (TP53) is nearly universal other high frequency mutations or structural variations have not been identified. Despite this genomic heterogeneity, key conserved transcriptional programs associated with survival have been identified across human, canine and induced murine osteosarcoma. The epigenomic landscape, including DNA methylation, plays a key role in establishing transcriptional programs in all cell types. The role of epigenetic dysregulation has been studied in a variety of cancers but has yet to be explored at scale in osteosarcoma. Here we examined genome-wide DNA methylation patterns in 24 human and 44 canine osteosarcoma samples identifying groups of highly correlated DNA methylation marks in human and canine osteosarcoma samples. We also link specific DNA methylation patterns to key transcriptional programs in both human and canine osteosarcoma. Building on previous work, we built a DNA methylation-based measure for the presence and abundance of various immune cell types in osteosarcoma. Finally, we determined that the underlying state of the tumor, and not changes in cell composition, were the main driver of differences in DNA methylation across the human and canine samples. SIGNIFICANCE: Genome wide comparison of DNA methylation patterns in osteosarcoma across two species lays the ground work for the exploration of DNA methylation programs that help establish conserved transcriptional programs in the context of varied mutational landscapes.

Ichthyosis uteri with dysplasia - A case report.

Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation. It is considered a benign lesion, but its association with endometrial malignancy has been reported in the literature. We are reporting a case of ichthyosis uteri with dysplasia associated with cervical intraepithelial neoplasm (CIN III). The case is reported for its rarity and to aware about neoplastic potential of ichthyosis uteri.

Rare, risky, recurrent: An enigmatic cutaneous polyp.

Myxofibrosarcomas (MFSs) are sarcomas most commonly seen in older patients. These are tumors of deep soft tissue seen in subcutaneous tissue and deep fascia, with frequent muscle involvement. These sarcomas are notorious for recurrences and progression to a higher grade with notable metastatic potential. They are very often under-diagnosed owing to their inherent morphological variability. A case of MFS is presented as a cutaneous, exophytic, polypoidal mass because of its rarity and importance of timely diagnosis, as under-diagnosis may lead to inadequate clearance of tumor, recurrences, metastases and increased mortality.

Tuberculosis cutis orificialis with underlying pulmonary tuberculosis in an immunocompetent man.

Tuberculosis cutis orificialis (TCO) is a rare form of tuberculosis more often secondary to pulmonary tuberculosis. TCO has varied differential diagnoses and thus results in delayed diagnosis and treatment leading to serious consequences. The diagnosis of TCO is confirmed by biopsy and nucleic acid amplification tests in majority of cases. We report a case of TCO with underlying pulmonary tuberculosis in a 50-year-old male, who presented with a painful nonhealing ulcer of the right buccal mucosa. Biopsy and real-time polymerase chain reaction helped in confirming the diagnosis. The patient was treated with antitubercular therapy.

Study of adenotonsillectomy specimens: An institutional experience.

OBJECTIVE: Waldeyer's lymphatic ring consists of group of tonsils located over the posterior oropharyngeal wall. The palatine tonsils are largest tonsil. The present study was aimed to evaluate the significance of lymphoid hyperplasia, lymphocyte infiltration with and without defect in the surface epithelium in chronic tonsillitis (CT) and chronic adenotonsillar hypertrophy (CAH) in resected tonsillectomy and adenotonsillectomy specimens. MATERIALS AND METHODS: A total of 85 patients were included in the study. Fifty-one cases underwent bilateral tonsillectomy and 34 cases underwent adenotonsillectomy. RESULTS: The lymphoid hyperplasia was higher in CAH (30/34; 88.24%) as compared to CT (26/50; 52%). Lymphocyte infiltration with or without defect in the surface epithelium was common in CT. The histopathologic criteria of lymphoid hyperplasia and lymphocyte infiltration with or without defect in the surface epithelium showed a statistically significant difference between CT and CAH. CONCLUSION: CT and CAH may be differentiated on the basis of reliable histopathological criteria. Punch biopsy can be performed to avoid CT complication if the clinical diagnosis is true. Choristomas can be clinically confused with true neoplasms, if large in size.

Acute abdomen with a misleading clinical entity.

Massive ovarian edema is a rare, non-neoplastic solid tumor-like lesion. It results from compromised venous and lymphatic drainage due to partial or intermittent torsion of ovarian pedicle. Pain, distension or abdominal mass, menstrual irregularities, infertility and hormone-related symptoms can be the clinical presentation. We report a case of massive ovarian edema in a 28-year-old female who presented with acute pain abdomen. She was diagnosed clinico-radiologically with solid ovarian tumor and massive ovarian edema on histology. Massive ovarian edema should be suspected in female of reproductive age group presenting with abdominal pain, solid enlargement of ovary on radiology and normal serum tumor markers.

Epithelial ovarian tumors in a premenarchal girl: a rare case report.

Ovarian tumors are relatively uncommon in paediatric age group and mostly occur in the period after menarche and are extremely rare prior to menarche. However, in children and adolescent, the epithelial ovarian tumors account approximately 10% to 28% of all ovarian tumors. In the present case, the patient was presented with abdominal pain for 1 day and no mass was felt on physical examination. Contrast-enhance computed tomography abdomen and pelvis showed a left ovarian cystic mass measuring 7.3×5.1 cm in size and unilateral oophorectomy was done. Tumor shows multiloculated cysts of varying sizes filled with mucinous fluid. Cysts were lined by tall columnar epithelial cells and show predominantly periodic acid-Schiff positive neutral mucin favouring benign nature of lesion. We present this case due to its uncommon age of presentation and the patient was premenarchal girl.

Epidermal Cysts: A Clinicopathological Analysis with Emphasis on Unusual Findings.

BACKGROUND: Epidermoid cysts, one of the common benign intradermal or subcutaneous tumors commonly result from the trauma to the pilosebaceous unit in the hair bearing area. In areas without hair, these cysts are considered implantation and proliferation of squamous epithelium into the dermis due to injury. AIMS: The aim is to evaluate the clinicopathological details with emphasis on unusual findings related to epidermoid cysts. STUDY DESIGN: This is a retrospective cross-sectional study carried out over 2 years. MATERIALS AND METHODS: A total of 103 cases of epidermoid cysts were included in the study. The clinical details such as age, gender, sites, and dimensions were noted. The histopathological findings were evaluated and correlated with the clinical findings. RESULTS: The highest incidence was observed in the age group of 21-30 years (23.3%, 24/103) and the most common affected region was the head and neck region (32%, 33/103). The size of cysts ranged from 0.3 to 9 cm in diameter with a mean of 2.1 cm. The unusual sites observed in this study were four at the left sole, two at right sole, two at prepuce, and one each at the right finger, left palm, and oral cavity. Histopathological findings included rupture of epidermoid cysts with giant cell reaction, melanin pigmentation, and association with other pathologies such as keloid and lipoma. CONCLUSION: Epidermoid cysts are common benign intradermal or subcutaneous tumors, but they can have unusual presentations and histopathological findings. Epidermoid cysts need early diagnosis and treatment as they can cause cosmetic and functional impairment.

Epipalpebral conjunctival chondroid choristoma: Interesting developmental anomaly presenting in an adult.

Ocular choristomas are uncommon lesions chiefly presenting in children. Choristomas may contain dermal and epidermal components, muscle, cartilage, bone, etc. They are usually seen in epibulbar conjunctiva, but epipalpebral location is uncommon. We present a case of epipalpebral chondroid choristoma presenting in an adult patient.

Primary Conjunctival Tuberculosis Presenting as Dry Eye: A Rare Case Report and Review of the Literature.

Primary conjunctival tuberculosis is very rare in the developed countries. In an endemic country like India, it should be considered in the differential diagnosis of any unusual conjunctival lesion with unilaterality, chronicity, and nonresolution of symptoms after steroid use. We present the case of a 52-year-old female who presented with unilateral itching and blurring of vision for 20 days. There were irregular nodular elevated areas with shrinkage of the lower palpebral conjunctiva. A biopsy of the lesion revealed necrotizing epithelioid cell granulomas along with Langhans type of giant cells. However, no acid-fast bacilli were seen on Ziehl-Neelsen stain. Systemic examination of the patient was normal, and there was no evidence of pulmonary tuberculosis. Polymerase chain reaction of conjunctival scrapings was positive for Mycobacterium tuberculosis. The patient was started on antitubercular drugs. We present this very rare case of primary tuberculosis of the conjunctiva presenting with dryness of the eye.

A Solid Pseudopapillary Tumour of the Head of Pancreas: A Rare Case Report Diagnosed by Fine Needle Aspiration Cytology.

Solid Pseudopapillary Tumour (SPPT) is a distinctive tumour of low malignant potential with a striking and unexplained predilection for adolescent girls and young women. Hence it is important to distinguish this rare tumour from other pancreatic tumours with similar cytomorphologic features because an accurate preoperative diagnosis is highly desirable since these patients can have long survival with adequate surgery. We report a case of the rare SPPT of the pancreas in a young girl who presented with nonspecific pain in the abdomen. Radiological investigations revealed a solid cystic mass in relation to the uncinate process of pancreas and third part of duodenum. The mass was diagnosed to be a solid pseudopapillary neoplasm of pancreas on ultrasound guided FNAC. Surgical removal of the pancreatic tumour and detailed histologic study confirmed the cytologic diagnosis. We present this case because, to date, there are few case reports on the cytological diagnosis of this tumour, about 60 cases, diagnosed by Fine-Needle Aspiration Cytology (FNAC) are reported in the literature. With widespread availability of high-quality imaging systems and a better understanding of its pathology, the number of cases reported in the literature has been steadily increasing in recent years. In our case, the cytological diagnosis was done even before the detailed imaging findings were available, the cytological features of this tumour are highly characteristic and it is possible to differentiate it from other pancreatic tumours with relative ease.

Clinical validation of targeted next-generation sequencing for inherited disorders.

CONTEXT: Although next-generation sequencing (NGS) can revolutionize molecular diagnostics, several hurdles remain in the implementation of this technology in clinical laboratories. OBJECTIVES: To validate and implement an NGS panel for genetic diagnosis of more than 100 inherited diseases, such as neurologic conditions, congenital hearing loss and eye disorders, developmental disorders, nonmalignant diseases treated by hematopoietic cell transplantation, familial cancers, connective tissue disorders, metabolic disorders, disorders of sexual development, and cardiac disorders. The diagnostic gene panels ranged from 1 to 54 genes with most of panels containing 10 genes or fewer. DESIGN: We used a liquid hybridization-based, target-enrichment strategy to enrich 10 067 exons in 568 genes, followed by NGS with a HiSeq 2000 sequencing system (Illumina, San Diego, California). RESULTS: We successfully sequenced 97.6% (9825 of 10 067) of the targeted exons to obtain a minimum coverage of 20× at all bases. We demonstrated 100% concordance in detecting 19 pathogenic single-nucleotide variations and 11 pathogenic insertion-deletion mutations ranging in size from 1 to 18 base pairs across 18 samples that were previously characterized by Sanger sequencing. Using 4 pairs of blinded, duplicate samples, we demonstrated a high degree of concordance (>99%) among the blinded, duplicate pairs. CONCLUSIONS: We have successfully demonstrated the feasibility of using the NGS platform to multiplex genetic tests for several rare diseases and the use of cloud computing for bioinformatics analysis as a relatively low-cost solution for implementing NGS in clinical laboratories.

Hepatic metastasis as an initial manifestation of salivary adenoid cystic carcinoma: Cytologic diagnosis.

Adenoid cystic carcinoma is a malignant tumor of the salivary glands. It is slow growing and is characterized by the delayed development of distant metastasis, which may develop even a decade or more after initial treatment of the primary tumor. We present the case of a 68-year-old male with complaints and radiological findings suggestive of primary hepatocellular carcinoma. However, fine-needle aspiration findings showed metastasis of adenoid cystic carcinoma. A retrospective clinical and ultrasound examination of the patient revealed a small asymptomatic enlargement of the submandibular salivary gland that was aspirated and showed features of adenoid cystic carcinoma.

Primary cutaneous rhinosporidiosis diagnosed on FNAC: a case report with review of literature.

Rhinosporidium seeberi causes granulomatous inflammation of mucocutaneous sites, presenting most frequently as polypoidal lesions in the nose. Sites like the conjunctiva, trachea, nasopharnyx, skin, and genitourinary tract are less frequently involved. Primary cutaneous lesion is extremely rare. We report the fine needle aspiration cytology (FNAC) of rhinosporidiosis occurring as a primary cutaneous lesion. FNAC of polypoidal and warty skin growths on leg in a 28-year-old male revealed numerous sporangia and spores of R. seeberi. There were no mucocutaneous lesions. Histopathologic examination confirmed the diagnosis. Globular bodies in endospores of R. seeberi are specific; their demonstration confirms diagnosis of rhinosporidiosis. FNAC or scrape cytology is economical and reliable in preoperative diagnosis of suspected and unsuspected cutaneous lesions of R. seeberi.