A rare case of intraoral schwannoma in gingiva.

BACKGROUND: Schwannomas are benign, slow-growing encapsulated nodular lesions. As for the most benign encapsulated lesions, the treatment of choice is complete removal of the entire tissue with preservation of surrounding tissue. METHODS AND RESULTS: The case presented is that of a 35-year-old female with the chief complaint of swelling on her gums in the lower left posterior region. Through intraoral and extraoral examinations the benign nature of the lesion was established. The excisional biopsy was carried out under local anesthesia, and the specimen was sent for histological examination, which gave a definite diagnosis of oral schwannoma. The patient was recalled at regular intervals so as to check for any recurrence of the lesion or occurrence of new lesions elsewhere in the body. CONCLUSION: The present case reemphasizes the importance of thorough clinical examination along with appropriate investigations, especially histopathological and immunohistochemical, for establishing a definitive diagnosis, which eventually plays an important role in the choice and execution of appropriate treatment at the earliest for the best prognosis and outcomes. KEY POINTS: Why is this case new information? To the best of the author's knowledge, this the first case report of oral schwannoma diagnosed in gingiva in Indian population. This case presented a diagnostic dilemma due to its unusual location. What are the keys to successful management of this case? Schwannomas when completely excised have low rate of recurrence. Accurate diagnosis of the lesion along with complete physical examination and follow-up at regular interval to rule out any recurrences are the keys to successful management of this case. What are the primary limitations to success in this case? Lack of data regarding residual tumor postoperative is a primary limitations to success of the case, as recurrence is associated with subtotal tumor removal.

Inflammatory markers and COVID-19 disease progression.

BACKGROUND: The COVID-19 pandemic has resulted in a global humanitarian crisis. Despite ongoing research, transmission risks and many disease characteristics remained unclear. Most patients have displayed elevated levels of certain inflammatory markers, which we sought to investigate further in relation to disease severity. The aim of this study was to examine the correlation between inflammatory markers and the severity of COVID-19 among patients. METHODS: We conducted a cross-sectional study from April to September 2020, involving 143 COVID-19 PCR-positive patients from Ziauddin Hospital. Electronic patient records provided data on demographics, clinical status, and laboratory results. RESULTS: The majority of PCR-positive patients were elderly males with comorbidities such as diabetes and hypertension. Almost all patients exhibited increased levels of various inflammatory markers, with procalcitonin (97.2%) being the most common. Statistically significant differences were observed in the levels of TLC (p = 0.005), CRP (p = 0.001), LDH (p = 0.001), Ferritin (p = 0.001), D-dimer (p = 0.001), and procalcitonin (p = 0.028), in relation to COVID-19 severity. CONCLUSIONS: The data suggest a significant association between levels of inflammatory markers and COVID-19 severity. All markers, except procalcitonin, demonstrated a significant correlation with disease severity. These results could enhance our understanding of COVID-19 pathogenesis and help predict and manage severe cases.

Angiotensin-converting enzyme 2 (ACE2) polymorphisms and susceptibility of severe SARS-CoV-2 in a subset of Pakistani population.

Science is digging for the varied presentation of COVID-19 patients exposed to the same risk factors, and medical conditions may be influenced by the presence of polymorphic genetic variants. This study investigated the link between ACE2 gene polymorphisms and the severity of SARS-CoV-2. This cross-sectional study recruited COVID-19 PCR-positive patients by consecutive sampling from Ziauddin Hospital from April to September 2020. DNA was extracted from whole blood, followed by gene amplification and Sanger's sequencing. Most of the patients, 77: 53.8%, were serious. Males were higher (80; 55.9%) with age more than 50 years (106: 74.1%). We found 22 ACE2 SNPs. rs2285666 SNP was most prevalent with 49.2% CC, 45.2% TT, 4.8% CT heterozygosity, and 0.8% AA genotypes. Variants with multiple genotypes were also insignificantly associated with the severity of COVID-19 in the analysis of the dominant model. Only rs2285666 had a significant statistical link with gender (p-value 0.034, OR; 1.438, CI; 1.028-2.011) while rs768883316 with age groups (p-value 0.026, OR; 1.953, CI; 1.085-3.514). Haplotypes ATC of three polymorphisms (rs560997634, rs201159862, and rs751170930) commonly found in 120 (69.77%) and TTTGTAGTTAGTA haplotype consisting of 13 polymorphisms (rs756737634, rs146991645, rs1601703288, rs1927830489, rs1927831624, rs764947941, rs752242172, rs73195521, rs781378335, rs756597390, rs780478736, rs148006212, rs768583671) in 112 (90.32%) had statistically significant association with the severity having p = value 0.029 and 0.001 respectively. Males of old age and diabetics are found to have more severe COVID-19 infection in the current study. We also found that common ACE2 polymorphism rs2285666 influences the susceptibility of acquiring the severe SARS-CoV-2 infection.

Hormonal and genetic risk factors for breast cancer in a subset of the Karachi population.

Objective: Appraisement of vitamin D receptor (VDR) polymorphisms is thought to be crucial to detect and make approaches targeting groups at risk for breast cancer (BC). Moreover, an understanding of genetic susceptibility can allow us to foresee several risk factors. The objective of our research is to evaluate the T to C base shift within TaqI (rs731236) in exon 9 and the A to G transition within Bsm1 (rs1544410) in intron 8 of the VDR gene as risk factors among BC patients. Methods: The study involved 150 BC patients with a definite histological diagnosis. Controls were age-matched. DNA samples of Taq1 and Bsm1 were amplified according to the programmed protocol using a thermal cycler. The amplified PCR products were digested with Taq1 and Bsm1 restriction endonuclease enzymes. RFLP fragments were observed under UV light using 2% agarose gel and 0.5 ug/mL Ethidium bromide. Results: The highest number of BC patients (32.7%) were in the 36 to 45 age group. Ethnicity and parity were found to be statistically significant. TaqI polymorphisms showed the highest genotypic frequency for TC (Tt) at 49 (32.7%), and there were 18 patients (12.0%) and controls with high statistical significance (OD 3.6, CI 2-6.4) and a p-value < 0.0001. However, for the Bsm1 genotype, the A (B) allele may be linked with protection from BC in individuals with the AA (BB) genotype. Conclusion: A positive association was found between VDR genotypes and BC in a collective assay of Taq1 and BsmI. These results need further authentication in large cohort studies prior to applying these SNPs as promising BC markers in the Pakistani populace.

Evaluation of serum neuron specific enolase levels among patients with primary and secondary burning mouth syndrome.

INTRODUCTION: Burning mouth syndrome is a painful condition of the oral cavity with ambiguous pathogenesis and diagnosis. Neuron-specific enolase is increased in several conditions including peripheral neuropathy of diabetes, ophthalmopathies, spinal cord injuries and tumors. Evidence on association of burning mouth syndrome and neuron-specific enolase is limited. AIM: This study aims to evaluate neuron-specific enolase levels in primary and secondary burning mouth syndrome patients and compare the levels of neuron-specific enolase with associated conditions in secondary burning mouth syndrome. METHODS: One hundred and twenty-eight patients of more than 18 years of age with no gender predilection and having clinical symptoms of burning mouth syndrome and 135 healthy subjects were included. All the patients fulfilled Scala's criteria for the diagnosis of burning mouth syndrome, including "primary" (idiopathic) and "secondary" (resulting from identified precipitating factors) burning mouth syndrome patients. Blood samples were obtained from burning mouth syndrome patients. Serum neuron-specific enolase was evaluated using enzyme-linked immunosorbent assay. To compare means and standard deviations, among primary and secondary burning mouth syndrome, data was analysed with analysis of variance and multiple comparisons test. RESULTS: The mean age of the study participants for burning mouth syndrome and healthy subjects was 53.30 and 51.6 years, respectively. Amongst the secondary burning mouth syndrome group, 32 (25%) of the patients had menopause, 15 (11.7%) had diabetes, eight (6.2%) of the patients had nutritional deficiency, seven (5.4%) had combined diabetes, menopause, and depression, six (4.6%) had combined diabetes and depression, four (3.1%) were diagnosed with Sjögren's syndrome. A minor percentage of 2.3% (three) had gastroesophageal reflux disease, while the remaining three (2.3%) patients in the secondary burning mouth syndrome group were on anti-depressants. There was a statistically significant increase in the levels of neuron-specific enolase in primary burning mouth syndrome as compared to the secondary burning mouth syndrome and healthy groups. Among the subgroups of secondary burning mouth syndrome, diabetic individuals showed a significant increase in neuron-specific enolase level when compared with other conditions in the secondary burning mouth syndrome patients.Discussion and conclusion: The raised serum neuron-specific enolase levels in patients suffering from primary burning mouth syndrome highlight a possible neuropathic mechanism. It was also increased in the sub-group of secondary burning mouth syndrome patients having diabetes. Although it cannot be ascertained whether the deranged values in the diabetic group were due to burning mouth syndrome or due to diabetes, the raised quantity of neuron-specific enolase in the primary burning mouth syndrome group is a reliable diagnostic indicator. Future studies on the assessment of neuron-specific enolase levels as a diagnostic tool for onset and management of primary and secondary burning mouth syndrome are recommended.

Life-time tobacco consumption and oral cancer among citizens of a high incidence metropolis.

OBJECTIVE: To analyse dose-response relationship between the common risk factor of tobacco consumption and oral lesions like squamous cell carcinoma and pre-cancerous lesions. METHODS: The cross-sectional case-control study was conducted at Ziauddin University, Karachi from 2011 to 2016, and comprised histologically-confirmed cases of oral squamous cell carcinoma in group A, clinically-diagnosed oral pre-cancerous lesions in group B, and habit-matched controls in group C. The subjects were enrolled from 2011 to 2016. Life-time tobacco exposure was calculated using chewing index and smoking index for comparison between cases and controls. Data was analysed using SPSS 20. RESULTS: Of the 358 subjects, 150(42%) were in group A with a mean age of 47.1±12.22 years, 100(28%) were in group B with a mean age of 34.17±13.78 years, and 108(30%) were in group C with a mean age of 41.6±14.58 years. Of all the group A patients, 125(83.33%) and 96(96%) in group B had a positive history of tobacco use, with tobacco-chewers being the most in numbers 172(68.8%). Exclusive smoking was seen in 11(4.4%) cases, 38(15.2%) patients were both tobacco-chewers and smokers, and 29(11.6%) were tobacco-free. Group A and B patients had life-time tobacco exposures either equal or lower compared to group C controls (p>0.05). CONCLUSION: Life-time tobacco exposure indices were either comparable or lower in patients compared to the controls.

Evaluation of Osteocalcin Levels in Saliva of Periodontitis Patients and Their Correlation with the Disease Severity: A Cross-Sectional Study.

OBJECTIVES: The present study aimed to investigate osteocalcin levels in saliva of healthy and periodontitis patients and correlate these levels with periodontitis severity. MATERIALS AND METHODS: This cross-sectional study was conducted in a hospital setup. A total of 95 individuals participated in the study with 46 subjects in group I (healthy individuals) and 49 subjects in group II (mild, moderate, and severe chronic periodontitis patients). A detailed assessment of clinical periodontal parameters and alveolar bone loss was made. Unstimulated saliva samples were collected from all study subjects and osteocalcin levels were quantitatively analyzed by sandwich enzyme-linked immunosorbent essay technique. STATISTICAL ANALYSIS: One-way analysis of variance, Spearman's correlation test, and Pearson's chi-squared test were applied at a significance level of 95%. p-Values less than 0.05 were considered statistically significant. RESULTS: The results showed a significant association of qualification with group II (p < 0.02). Bone loss scores were also significantly associated with periodontitis severity (p < 0.01). However, no statistically significant difference was observed between group I and group II in terms of mean salivary osteocalcin levels (p = 0.68). Also, an insignificant correlation was also observed between osteocalcin levels and periodontitis severity (p = 0.13). CONCLUSION: The overall study results showed that there was no significant difference between saliva osteocalcin levels of healthy and periodontitis patients. Also, there was a nonsignificant correlation between osteocalcin levels and periodontitis severity. The findings of the present study support the hypothesis that low osteocalcin levels in saliva might be considered as a poor indicator of periodontal disease progression and severity.

Bone Turnover Markers in Chronic Periodontitis: A Literature Review.

Chronic periodontitis (CP) is a multifactorial oral inflammatory disease characterized by progressive destruction of bone and ultimate tooth loss. The alarming rise in the prevalence of periodontitis has led to the development of innovative diagnostic techniques. Several quantifiable biomarkers in the gingival crevicular fluid (GCF) and saliva of chronic periodontitis patients have been detected in the field of oral fluid diagnostics. Bone turnover biomarkers hold a valuable diagnostic potential in determining the extent of alveolar bone destruction and the risk of future bone loss. This review article highlights the importance of bone turnover markers in facilitating earlier detection, accurate diagnosis, and effective treatment strategies, leading to optimal clinical management of chronic periodontitis.

The GlucoCoper - An Exploratory Study to Assess Coping Mechanisms of Women Diagnosed with Diabetes Mellitus.

Diabetes distress can be managed effectively by coping-skill training. To improve coping skills, one must begin by analysing current coping styles of an individual. The GlucoCoper has been developed as a brief, simple, easy-to-administer tool for assessing the coping mechanism of people with diabetes mellitus. The GlucoCoper includes six items rated on a graphic visual analogue scale. These include four items to assess positive coping skills (acceptance, optimism, planning and action) and two items to assess negative coping mechanisms (negativity and blame). The current single centre prospective study analysed the six-item GlucoCoper as a tool to identify coping skills in antenatal women with diabetes, and correlated them with level of diabetes distress. Greater duration of diabetes was related with lower optimism; while poor glycaemic control (high glycated haemoglobin [HbA1c]) was related with high negativity and low scores for planning. Highly educated subjects revealed greater negativity, while those from a rural background exhibited higher blame scores of =7.00 for negativity, =4.00 for planning, and =5.00 for action. These factors should prompt detailed evaluation and intervention. The findings of the current study suggest that GlucoCoper can be used as a screening tool for dysfunctional coping skills in pregnancy complicated by diabetes. Negativity, planning and action, the three domains which correlate strongly with the GlucoCoper score, can be used to create a three-item GlucoCoper, to be used as a brief and effective screening tool for dysfunctional coping skills in pregnancy complicated by diabetes.

Cytokine levels and their role in the etiopathogenesis of Burning Mouth Syndrome: A systematic review.

INTRODUCTION: Burning Mouth Syndrome is characterized by variable symptoms that include pain, burning and paraguesia in an otherwise healthy-appearing oral mucosa. Although the etiopathogenesis of Burning Mouth Syndrome is unknown, some studies provide evidence of subclinical inflammation leading to disrupted cytokine levels. AIM: To investigate the expression of cytokines and role in the etiopathogenesis of Burning Mouth Syndrome. METHODS: Online databases (MEDLINE and EMBASE) were searched from November 1986 to November 2018 for case control/cross-sectional studies comparing the levels of cytokines in patients with Burning Mouth Syndrome and healthy controls. RESULTS: A total of eight studies were included in the current review. Four studies were of high and four studies were of moderate quality. Seven studies evaluated IL-6, out of which four showed comparable results, two showed higher levels and one study reported lower levels in Burning Mouth Syndrome patients compared to controls. Four studies assessed IL-2, out of which two reported comparable results whereas one study reported higher levels and one study reported lower levels in Burning Mouth Syndrome patients compared to controls. IL-10 levels were measured in three studies that reported no significant differences in the levels between Burning Mouth Syndrome and healthy controls. DISCUSSION AND CONCLUSION: The etiopathogenesis of Burning Mouth Syndrome is multifactorial. Studies have provided scientific evidence that inflammation plays a key role in Burning Mouth Syndrome pathogenesis. However, whether up-regulation or down-regulation of specific cytokines contribute to the etiopathogenesis of Burning Mouth Syndrome remains debatable. Further high-quality studies with larger sample size and assessing a wider array of cytokines are warranted in order to obtain strong conclusions.

Serum Metabolomic Profiles for Breast Cancer Diagnosis, Grading and Staging by Gas Chromatography-Mass Spectrometry.

Detection of metabolic signature for breast cancer (BC) has the potential to improve patient prognosis. This study identified potentially significant metabolites differentiating between breast cancer patients and healthy controls to help in diagnosis, grading, staging and determination of neoadjuvant status. Serum was collected from 152 pre-operative breast cancer (BC) patients and 155 healthy controls in this case-controlled study. Gas chromatography-mass spectrometry (GC-MS) was used to obtain metabolic profiles followed by chemometric analysis with the identification of significantly differentiated metabolites including 7 for diagnosis, 18 for grading, 23 for staging, 15 for stage III subcategory and 10 for neoadjuvant status (p-value < 0.05). Partial Least Square Discriminant Analysis (PLS-DA) model revealed a distinct separation between healthy controls and BC patients with a sensitivity of 96% and specificity of 100% on external validation. Models for grading, staging and neoadjuvant status were built with Decision Tree Algorithm with predictive accuracy of 71.5%, 71.3% and 79.8% respectively. Pathway analysis revealed increased glycolysis, lipogenesis, and production of volatile organic metabolites indicating the metabolic alterations in breast cancer.

Correlation of Hormone Receptor and HER2/neu Expression with Clinicopathologic Parameters in Primary Breast Tumors.

BACKGROUND: Breast cancer (BC) is a major health issue worldwide as well as in Pakistan. All women belonging to any race, ethnicity or lineage are in danger of developing breast cancer. Significant factors influencing the development of breast malignancies are the genetic background, environmental conditions, reproductive parameters, the consequences of female hormones both intrinsic and extrinsic, alteration of immune status, and biologic determinants. MATERIALS AND METHODS: Overall 150 biopsy proven patients were included in the study. Samples were submitted for histopathology and determination of estrogen and progesterone receptor expression and HER2/neu status. Associations with other characteristics like age, tumor stage, node involvement, histological grade were also studied. RESULTS: Mean age at presentation was 46.7 years. The majority had invasive ductal carcinoma, 100 (84.7%), and were in stage pT3, 54 (45.7%). Important relationships (P<0.05) were found among ER, PR positivity, and Her 2 neu overexpression. However, no noteworthy link was identified amongst ER, PR, Her 2 neu and tumor grade, stage, age, lymph node involvement except for the menopausal status. CONCLUSIONS: In summary, breast cancer patients featured an advanced stage of disease, more lymph node involvement, and moderately high grade tumors and with more estrogen, progesterone receptor and HER2 positive tumors.

Do VDR Gene Polymorphisms Contribute to Breast Cancer?

Breast cancer is the first or second leading cancer among females across the globe. A large number of studies have been conducted to assess any relationship between vitamin D receptor (VDR) gene polymorphisms and breast cancer development. Epidemiological studies have indicated that ethnic traits exhibited by a group of people with a common ancestry and culture, alter the link between VDR gene and breast cancer. It has been hypothesized that VDR polymorphisms have the capacity to impact both on incidence of breast cancer occurrence and to predict its outcome. A survey was here conducted to assess and compare the impact of vitamin D receptor gene polymorphisms Fok1, Bsm1, Taq1, Apa1 and poly (A) on development of breast cancer. Information was obtained from electronic databases including PubMed and Google Scholar for articles published during the period from 1996 to 2015. This search was achieved by using the terms "genetics", "breast cancer", "VDR gene", "polymorphisms". However, due to inconsistent results, no conclusive statements could be presented about the significance of the VDR genotype as far as the development of breast carcinoma is concerned'.

Differential expression of phophatase and tensin homologue in normal, hyperplastic and neoplastic endometrium.

OBJECTIVES: To observe the differential expression of phophatase and tensin homologue in normal proliferative, hyperplastic and malignant endometrial lesions. METHODS: .The retrospective study was based on the analysis of endometrial samples, both hysterectomies and curettage, received at the department of pathology Basic Medical Sciences Institute at the Jinnah Postgraduate Medical Centre, Karachi, from January 1, 2006 to December 31, 2010. A total of 55 endometrial samples were analysed for morphological features and results of immunohistochemical staining. RESULTS: Of the 55 samples, 25 (45.45%) were malignant endometrial lesions, 6 (10.9%) complex hyperplasias with atypia, 14(25.45%) complex hyperplasias without atypia hyperplasia, 6 (10.9%) simple hyperplasias without atypia, and 4 (7.27%) normal proliferative endometrium. Among malignant endometrial lesions, 12 (48%) showed complete loss of phophotase and tensin homologue expression out of which majority were endometroid adenocarcinoma. Five (83.3%) cases of complex hyperplasias with atypia and 9 (64.28%) cases of complex hyperplasia without atypia showed complete loss of or diminished expression of phophotase and tensin homologue. CONCLUSION: Loss of phophotase and tensin homologue expression was seen in a significant number of well differentiated endometrial adenocarcinomas and complex hyperplasias with atypia suggesting loss of PTEN expression as an early event in endometrial carcinogenesis.

Key to successful vesico-vaginal fistula repair--an experience of urogenital fistula surgeries and outcome at gynaecological surgical camp-2005.

BACKGROUND: Vesico-vaginal fistula is not life threatening medical problem, but the woman face demoralization, social boycott and even divorce and separation. The aetiology of the condition has been changed over the years and in developed countries obstetrical fistula are rare and they are usually result of gynaecological surgeries or radiotherapy. Urogenital fistula surgery doesn't require special or advance technology but needs experienced urogynaecologist with trained team and post operative care which can restore health, hope & sense of dignity to women. METHODS: This prospective study was carried out to analyze the success rate in patients attending the referral hospital and sent from free gynaecological surgery camps held at interior of Sindh, and included preoperative evaluation for route of surgery, operative techniques and postoperative care. Total 70 patients were admitted from the patients attending the camp. Out of these, 29 patients had uro-genital fistula. Surgical repair of the fistula was done through vaginal route on 27 patients while 2 required abdominal approach. RESULTS: Out of 29 surgical repairs performed, 27 proved successful. CONCLUSION: Difficult and complicated fistulae need experienced surgeon. Establishment of separate fistula surgery unit along with appropriate care and expertise accounts for the desired results.