Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India.

Background: Electrocardiography (ECG) remains an excellent screening tool for cardiac assessment in Duchenne muscular dystrophy (DMD), but an accurate interpretation requires comparison with age-matched healthy controls. Objective: We examined various ECG parameters in children with DMD, in comparison with age-matched controls. Methods: Standard 12-lead ECG tracings of serial patients were screened for quality and selected. Controls were healthy, age-matched school-going children. Both quantitative and qualitative ECG parameters were analyzed. Results: After screening, ECGs from 252 patients with DMD (8.32 ± 3.12 years, 2-21 years) and ECGs from 151 age-matched healthy controls (9.72 ± 2.23, 4-19 years) were included. A significantly higher heart rate, shorter R-R interval, and taller R wave in V1 were seen across all age group of DMD in comparison to controls, with the difference increasing with age. While QT prolongation was seen in all age groups of DMD, QTc prolongation was seen only at 10 years or more. Incomplete right bundle branch block (RBBB) and pathological Q waves in inferolateral leads were exclusive in DMD, with the latter declining with age. Evidence for left ventricular (LV) pathology, such as tall R in V5/V6, increase in SV1 + RV6 height, and QRS complex duration, were seen only in the age group of 10 years or more. Conclusion: Stratification based on age and comparison with age-matched healthy subjects showed that several ECG parameters were influenced by age, and it also identified age-dependent evidence for LV pathology and QTc prolongation in DMD.

Intramucosal Melanocytic Nevi - A Rare Cause for Gingival Enlargement. Report of a Case and Review of Literature.

Background: Oral melanocytic nevi are infrequent oral lesions derived from nevus cells of oral mucosa which causes focal hyperpigmentation. The most common site of occurrence of oral nevi is the hard palate followed by buccal mucosa and gingiva. The mean age group affected are in their 3rd and 4th decade of life and there seems to be a predilection for females. Clinically, oral nevi are usually small, well-circumscribed macules but can also present as slightly raised papules. Histologically, nevi can be classified as Junctional, Compound or Intramucosal, with intramucosal being the more common type in the oral cavity. Case Presentation: In this paper, we report a case of intramucosal nevus in a 25-year-old female patient. The lesion presented as a gingival enlargement in the mandibular anterior region involving the marginal and attached gingiva, which is an extremely rare presentation. The clinical findings, histologic features and surgical management are presented. The patient was followed up for one year and the one year follow up revealed a small area of focal hyperpigmentation at the site of the previous lesion which is being closely monitored. Conclusion: Nevi located in the mucous membrane have been documented to pose a threat of malignant transformation. Hence, all pigmented lesions of the oral cavity should be cautiously diagnosed.

Metastatic Carcinoma of the Breast Presenting as Gingival Swelling in the Maxilla: A Case Report.

Background: Metastatic cancers in the oral cavity are usually very rare and are usually an indication of widespread malignancy. In some cases, oral metastasis was found to be the first presentation of distant site tumours. Even though oral metastatic lesions may be found anywhere in the oral cavity, they commonly present in the posterior areas of the jaw bones. Among the soft tissues, the gingiva is the most common site. The presence of inflammation in the gingiva and the role of periodontal microbiota are suggested to play a role in the attraction of metastatic cells. The purpose of this case report is to present a rare case of metastatic breast carcinoma presenting as a gingival enlargement in the maxillary anterior region. Case Presentation. A 37-year-old female patient who underwent modified radical mastectomy for invasive ductal breast carcinoma reported to the dental clinic with a gingival enlargement in the anterior maxillary region. Clinical and radiographic examination showed a rapidly enlarging gingival lesion with destruction of the underlying bone. A wide excision of the entire lesion was done. Histopathological and immunohistochemical (IHC) evaluations were suggestive of infiltrating poorly differentiated adenocarcinoma. Conclusion: This case report presents a metastatic oral lesion in the maxillary anterior region of the primary breast cancer site. The young age of patient and an uncommon site of metastatic lesion are the striking features of this case. We would like to highlight the importance of a thorough clinical, radiological, and histological evaluation of any gingival swelling as it could be a metastatic lesion. IHC staining helps in the diagnosis of the primary site of metastatic carcinomas. An early diagnosis and intervention could reduce the morbidity of the lesion and improve the survival rate.

Lymphangioma Circumscriptum - A Rare Cause of Gingival Enlargement: A Case Report and Review of Literature.

Background: Lymphangiomas or microcystic lymphatic malformations (MLM) are hamartomatous formations that occur due to the proliferation of lymphatic vessels. They commonly manifest in the head and neck region with only a few cases reported within the oral cavity. Lymphangioma circumscriptum in the gingiva is a rare condition which presents as asymptomatic pebbly gingival enlargement. They are characterized by lesions that are microscopic thin-walled cysts. Histopathologically, they show multiple dilated lymphatic channels which are lined by endothelial cells. The lumen is filled with lymphatic fluid, red blood cells, and other inflammatory cells. These are dispersed within connective tissue stroma. Multiple modalities of treatment have been reported, including surgical excision, laser therapy, and sclerotherapy. Case Presentation: This paper reports a rare case of multiple lymphangiomas of the gingiva in a 21-year-old female patient. The clinical picture, surgical treatment, histologic features, and immunohistochemistry [IHC] findings are presented. The histologic findings of lymphangioma were confirmed with IHC being positive for lymphatic marker D2-40. The patient was followed up for a period of 2 years, with no recurrence noted. Conclusion: Lymphangiomas or microcystic lymphatic malformations presenting as a gingival enlargement are a rare occurrence. Therefore, lymphangiomas may also be considered in the differential diagnosis of gingival enlargements.

Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context.

Background: The caregivers of persons with motor neuron disease (MND) have several needs that are usually not voiced on any platform. Aim: To explore the lived experience of spouses of persons with MND, identify their needs and develop guidelines for better home-based care. Method: An exploratory study with 3-point in-depth interviews among 13 participants was conducted. Participants were the spouses of persons with MND under treatment at a national quaternary referral center. The interpretative phenomenological analysis identified participants' needs. These needs, with literature review synthesis, guided the drafting of guidelines, which was validated by experts. Results: The needs were emotional, social, care systems, and skills. The guidelines developed contained 2 sections (1) Information for the spouses: understanding MND, communication, symptom management, marital relationship, palliative care, and everyday life made easier. (2) Well-being of the spouse caregivers: well-being of the spouse caregivers, self-care, mental health, supporting carers in palliative care, where to find help. Conclusion: The guidelines can be developed as a manual for the caregivers and for training healthcare professionals working with neurodegenerative conditions.

Porous membranes of quaternized chitosan composited with strontium-based nanobioceramic for periodontal tissue regeneration.

This report demonstrates the development of a degradable quaternary ammonium derivative of chitosan (QC) composited with strontium-containing nanoapatite (SA) for bioactivity. The material was made as porous membrane by solution casting and freeze drying, for guided tissue regeneration (GTR) applications. The micromorphology, tensile strength, suture pull-out strength, degradation (in vitro, in phosphate buffered saline), and cytocompatibility (using human periodontal ligament cells) were tested to investigate the effect of derivatization and SA addition. The porosity of the membranes increased with increasing SA content and so did the tensile strength and the degradation. The suture pull-out strength, however, showed a decrease. The cell culture evaluation endorsed biocompatibility. The composite with 1.5 mg SA per 1 mL QC was found to have optimal qualities for GTR applications.

Effect of nonsurgical periodontal therapy on C-reactive protein and iron indices in hemodialysis patients.

BACKGROUND AND AIM: The aim of the study was to evaluate the effect of nonsurgical periodontal therapy on clinical, renal, and hematological parameters at baseline and 3 months postoperatively on chronic kidney disease (CKD) patients undergoing hemodialysis. This comparative interventional study was conducted among CKD patients undergoing hemodialysis. MATERIALS AND METHODS: This study included chronic periodontitis (CP) patients divided into three groups Group I: CKD patients undergoing hemodialysis for less than a year; Group II: CKD patients undergoing hemodialysis for more than a year; and Group III: systemically healthy CP patients. Clinical parameters (bleeding on probing [BOP], probing pocket depth (PPD), and clinical attachment level [CAL]) were recorded at baseline (T0), 1 month (T1), and 3 months after scaling and root planing (SRP) (T2). C-reactive protein (CRP) and transferrin saturation (TSAT) were observed at T0 and at T2. Paired t-test and Chi-square test were applied to find the statistical significance (P < 0.05 was considered statistically significant at 95% confidence interval) between the T0 and T2 time within the groups. RESULTS: Clinical parameters such as PPD and CAL decreased with statistical significance in Group III alone, whereas BOP decreased with statistical significance in all the three groups. The study showed statistically significant reduction of CRP (in Group I and Group III) and TSAT increased with statistical significance in all the three groups after SRP. CONCLUSION: This suggests that SRP can bring an improvement in the systemic markers in CP patients under hemodialysis. However, we need a longitudinal study with a larger sample size to confirm the results.

Integrated Home-Based Palliative Care in Motor Neuron Disease: A Case Report from Low- Middle Income Country.

In many international care guidelines, multidisciplinary palliative care forms a key to optimum management in Motor Neuron Disease (MND). We describe the home-based palliative care interventions for a client with MND and his family from a Low and Middle-income country context. This report also discusses the advantages and challenges of the same with suggestions for sustaining the quality of care for neuro palliative conditions.

Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding.

INTRODUCTION: Duchene muscular dystrophy (DMD) is a neuromuscular disease of childhood, which has clear progression. The international standardized care guidelines for DMD suggest that palliative care is essential for the affected children. OBJECTIVE: To explore the parent's understanding of palliative care services available for children with DMD and the challenges faced by them in utilizing the same. METHODS: A cross-sectional qualitative exploratory study was conducted among six families of boys diagnosed with DMD. A semi-structured interview guide with prompts was used to conduct in-depth interviews which lasted for an average of 1 h. Thematic analysis was done to identify the pattern or themes. RESULTS: The major themes identified were "palliative care, living with DMD, Awareness about palliative care services and challenges." Awareness about palliative care services is the dominant theme identified as influencing rest of the experiences narrated by the parents of children with DMD. DISCUSSION: Integration of palliative care services from an early stage of the illness can help the child to make transition from one stage to another stage of the illness. To ensure the utilization of the available palliative care services, there is a need to create awareness about it among the general public. CONCLUSION: Introducing the concept of palliation of symptoms and ensuring quality of life of the child with DMD by accessing the available services can aid the parents to reach out for help for their child.

Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the carrier frequency of different pathogenic variants in the DMD gene for the first time in an Indian cohort. METHODS: Ninety-one mothers of genetically confirmed DMD probands are included in this study. Pathogenic variants in the DMD gene in probands were detected by multiplex ligation-dependent probe amplification (MLPA) or next-generation sequencing (NGS). Maternal blood samples were evaluated either by MLPA or Sanger sequencing. The demographic and clinical details for screening of muscle weakness and cardiomyopathy were collected from the confirmed carriers. RESULTS: Out of 91 probands, large deletions and duplications were identified in 46 and 6 respectively, while 39 had small variants. Among the small variants, substitutions predicted to cause nonsense mutations were the most common (61.5%), followed by frameshift causing small insertion/deletions (25.6%) and splice affecting intronic variants (12.8%). Notably, 19 novel small variants predicted to be disease-causing were identified. Of the 91 mothers, 53 (58.7%) were confirmed to be carriers. Exonic deletions had a significantly lower carrier frequency of 47.8% as compared to small variants (64.1%). The mean age of the carriers at evaluation was 30 years. Among the carriers, two were symptomatic with onset in the 4th decade, manifesting with progressive proximal muscle weakness and dilated cardiomyopathy. CONCLUSION: Carrier frequency of small pathogenic variants differs significantly from large deletions. Small pathogenic variants are more commonly inherited, whereas large deletions arise de novo.

Physicochemical Characterization of Five Different Bone Graft Substitutes Used in Periodontal Regeneration: An In Vitro Study.

BACKGROUND: Periodontal regeneration involves using a variety of bone graft substitutes (BGS) of varying origin and manufacturing processes. These include a wide range of biomaterials that are mainly of two types: the xenografts and alloplasts. The efficacy of these BGS depends upon the physical characteristics such as particle size, porous nature, surface morphology, as well as the chemical characteristics like composition, crystallinity and resorption properties. AIMS: The present study is a descriptive study that focuses on describing the physicochemical characteristics of five selected commercially available BGS that are frequently used in periodontal regeneration procedures. The BGS studied here included two xenografts (colocast and osseograft) and three alloplasts (B-OstIN, biograft HABG active and biograft HT). MATERIALS AND METHODS: The physical properties of the BGS, including particle size, morphology, and surface topography, were analyzed using SEM. The mineral phases and crystallinity of the BGS were analyzed using XRD. RESULTS: The results showed that the xenografts (colocast and osseograft) had minimal mineral composition and crystalline structure. The physical properties such as surface roughness and porosity were less compared to alloplastic materials. The alloplasts (B-OstIN, biograft HABG and biograft HT) that had different chemical compositions showed varying physical and crystalline properties. Biograft HT showed a superior porous scaffold architecture among all BGS studied. CONCLUSION: It is important for a clinician to have a thorough understanding about the physicochemical characteristics of BGS they use in periodontal regeneration. The xenografts evaluated here had minimal physical and crystalline properties. Among the alloplasts studied, biograft HT showed superior physicochemical properties, while the presence of bioactive glass in biograft HABG enhanced regeneration.

Effect of Nonsurgical Periodontal Therapy on Serum Levels of Interleukin-1ß and Interleukin-8 in Smokers and Nonsmokers with Chronic Periodontitis.

AIM: The aim of this study was to evaluate the effect of nonsurgical periodontal therapy on serum levels of interleukin-1ß (IL-1ß) and interleukin-8 (IL-8) in smokers and nonsmokers with chronic periodontitis before and after scaling and root planing (SRP). MATERIALS AND METHODS: This was a comparative interventional study including a total of 52 (26 smokers and 26 nonsmokers with chronic periodontitis) subjects. Clinical parameters (gingival index [GI], plaque index [PI], recession, probing pocket depth [PPD], and clinical attachment level [CAL]) were recorded at baseline and 4 weeks after initial periodontal therapy. Initial periodontal therapy included oral hygiene instructions and full mouth SRP. Venous blood sample of 5 mL was collected from each subject at baseline and 4 weeks after initial periodontal therapy to evaluate serum IL-1ß and IL-8. These biochemical parameters were assayed using enzyme-linked immunosorbent assay (ELISA) method. RESULTS: The periodontal parameters such as PI, GI, recession, PPD, and CAL were reduced after nonsurgical periodontal therapy. Smokers with chronic periodontitis showed statistically significant lower GI and higher PI, gingival recession, PPD, and CAL as compared to nonsmokers with chronic periodontitis. Statistically significant reduction in periodontal parameters was seen in both groups after periodontal therapy. IL-1ß and IL-8 were increased in both groups at baseline; after SRP both groups showed statistically significant reduction in IL-1ß and smokers with chronic periodontitis showed statistically significant increase in IL-8 after SRP. CONCLUSION: Smokers with chronic periodontitis showed more periodontal destruction and systemic inflammatory markers compared to nonsmokers with chronic periodontitis. After periodontal therapy both groups showed statistically significant improvement in clinical parameters and biochemical parameters excluding IL-8.

Lateral Periodontal Cyst - A diagnostic dilemma: Report of a rare case with CBCT and histological findings.

INTRODUCTION: Lateral Periodontal Cyst (LPC) is considered as a rare developmental odontogenic cyst. It is often diagnosed as an incidental radiographic finding, presenting as a circumscribed round radiolucent area between the roots of vital teeth. LPC usually does not present any clinical features. Differentiating the origin of the lesion from an endodontic or periodontal perspective presents as clinical challenge. PRESENTATION OF CASE: A female patient presented with an asymptomatic gingival swelling in the lingual aspect of mandibular anterior region. The associated tooth (#34) was endodontically treated 3 years back. A periapical radiograph showed a well-defined round radiolucency on the tooth. Cone beam computed tomography (CBCT) revealed extensive bone destruction. The lesion was surgically excised and histological examination confirmed the diagnosis of LPC. The site healed satisfactorily post-operatively. The case was followed up for a year without any recurrence seen. DISCUSSION: LPC is a very rare clinical entity, the diagnosis of which requires a detailed case history taking, clinical and radiographic examination are essential to get proper assessment of the pathology. It is said to originate from either the remnants of dental lamina, reduced enamel epithelium or rests of Malassez. LPC presents with a typical histological picture which ensures the confirmatory diagnosis. Surgical enucleation with thorough curettage is the treatment of choice. CONCLUSION: By reporting this rare case, we would like to stress to clinicians that there are a wide range of cysts and anatomic structures are present in the canine-premolar region of mandible of which LPC is a rare possibility.

Peripheral Adenomatoid Odontogenic Tumor - A Rare Cause of Gingival Enlargement: A Case Report with CBCT Findings.

INTRODUCTION: Adenomatoid odontogenic tumor (AOT) is an uncommon benign odontogenic lesion with varied clinical and histological presentation. It has slow growth potential and a low recurrence rate. The tumor is mainly seen in females in the second decade of life, predominantly affecting the maxilla and associated most often with unerupted canine teeth, earning the epithet "two-thirds tumor". There are three variants: intrafollicular, extrafollicular, and peripheral. The peripheral or extra osseous type is a rare form that arises in gingival tissue. CASE PRESENTATION: This article describes a case of AOT in a 10-year-old girl who presented with gingival enlargement in relation to the maxillary left central incisor. Interestingly, intraoral periapical radiography did not show any significant findings. However, cone-beam computed tomography of the site revealed significant bone loss in the area. A surgical excision was done. Histopathological examination revealed features of AOT. Based on clinical, radiographic, and histological evidence, a diagnosis of peripheral AOT (PAOT) was made. CONCLUSION: PAOT is a rare disease entity in children that mimics gingival swelling, and may often be misdiagnosed by dentists. With literature still ambiguous on the origin of the tumor and biological course, it becomes imperative to examine any gingival swelling in children with a proper clinical examination, periapical radiography, and if necessary cone-beam computed tomography. Excision and histopathological evaluation will help in confirming the exact disease condition.

Effect of Nonsurgical Periodontal Therapy on Serum Level of Interleukin-6 and Tumor Necrosis Factor-α in Chronic Periodontitis Patients with and without Hypothyroidism.

AIM: The aim of this article was to determine the effect of nonsurgical periodontal therapy on clinical parameters and also to evaluate serum level of interleukin (IL)-6 and tumor necrosis factor (TNF)-α in chronic periodontitis patients with and without hypothyroidism. MATERIALS AND METHODS: Subjects were 40 female patients (20 systemically healthy subjects with chronic periodontitis and 20 subjects with hypothyroidism and chronic periodontitis). Clinical parameters like plaque score, gingival score, gingival recession, probing pocket depth, and clinical attachment level were recorded at baseline and 4 weeks after nonsurgical periodontal therapy. Nonsurgical periodontal therapy included oral hygiene instructions and full-mouth scaling and root planing. A total of 5 mL of venous blood sample was collected from each subject at baseline and 4 weeks after nonsurgical periodontal therapy. RESULTS: The clinical parameters and biochemical parameters like IL-6 and TNF-α in both groups showed pronounced reduction at the end of 4 weeks following nonsurgical periodontal therapy. However, simultaneous comparison of clinical and biochemical parameters between the two groups was not statistically significant. CONCLUSION: This study provides evidence that nonsurgical periodontal therapy contributes to reduction in serum level of IL-6 and TNF-α in systemically healthy subjects with chronic periodontitis and subjects with hypothyroidism and chronic periodontitis. CLINICAL SIGNIFICANCE: The prevalence of periodontitis as well as hypothyroidism is increasing nowadays. Interleukin-6 and TNF-α are found to play a significant role in pathobiology of both periodontitis and hypothyroidism. With the treatment of periodontitis, it is found that there is improvement in periodontal and thyroid status of the patients. So, it is an alert to health professionals about the relation of hypothyroidism and periodontitis so that they consider a multidisciplinary approach.

Ligneous Periodontitis in a Patient with Type 1 Plasminogen Deficiency: A Case Report and Review of the Literature.

BACKGROUND: Ligneous periodontitis or destructive membranous periodontal disease is a rare condition involving gingival tissues, which is due to plasminogen deficiency and fibrin deposition. Plasminogen deficiency is an ultrarare autosomal recessive disease. The disease is characterized by gingival enlargement and periodontal tissue destruction that leads to rapid tooth loss despite treatment attempts. A defect in fibrinolysis and abnormal wound healing are the main pathogenesis of this condition. It is caused by mutations in PLG, the gene coding for plasminogen, which results in decreased levels and functional activity. Case Presentation. In this case report, clinical and histopathological findings of a 26-year-old male patient who presented with generalized membranous gingival enlargement are presented. He was the third child of consanguineous parents and had multicystic congenital hydrocephalus at birth. Besides the gingival enlargement, he also presented ligneous conjunctivitis since childhood. The intraoral examination revealed generalized periodontal breakdown. Radiographs showed alveolar bone loss present in every quadrant. All blood investigations were normal except for plasminogen deficiency. A biopsy sample was excised from affected gingiva and a series of histopathological evaluation was performed. Based on clinical and histopathological evidence, a diagnosis of destructive membranous periodontal disease or ligneous periodontitis was made. A clinical exome assay for the PLG gene was also done. It was confirmed as Type 1 plasminogen deficiency. CONCLUSION: Ligneous periodontitis has been rarely reported in India. The reasons could be because of the rarity of the disease or missed diagnosis. The need to take a proper history and perform a proper clinical examination and histopathologic evaluation has to be stressed when diagnosing and treating gingival enlargements. If a genetic condition is suspected, genetic screening is also needed. All these will help the clinician in correctly diagnosing the disease and formulating a proper treatment plan for managing the condition.

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis.

INTRODUCTION: Motor neuron disease (MND) is a progressive neuromuscular disorder that can have significant and debilitating impact on the affected patient and families. Spouses are the primary carers for persons with MND in India, and the life of the person with MND and their spouse is never the same after the diagnosis. AIM: The objective was to explore the lived experience of spouses of persons diagnosed with MND. METHODS: A qualitative exploratory study with three-point interviews was conducted with spouse caregivers of two persons diagnosed with MND who were receiving treatment from a national tertiary referral care center for neurological disorders. All the patients were diagnosed as definite MND according to the modified El Escorial criteria. With the spouses, in-depth interviews were conducted at their home, lasting on an average of 1 hour using a semi-structured interview guide (prompts). Interpretative phenomenological analysis was used to derive themes from the interviews. RESULTS: The major themes emerged from the analysis were meaning of MND which contained the subthemes of delay in diagnosis and deterioration, psychological response across illness trajectory, relationship with the subthemes of changing roles in being acarer, marital relationship, to be seen as doing "right," and communication; adaptation with the subthemes of coping strategies and support system and life without the loved one. CONCLUSION: The changes in the lives of spouses and in strategies for caring the partner with deterioration of symptoms in the illness trajectory are explained in this study. The palliative approach in the management of MND has to take into account, the experiences and needs of carers since care happens at home.

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

Hexanucleotide repeat expansion in C9orf72 is defined as a major causative factor for familial amyotrophic lateral sclerosis (ALS). The mutation frequency varies dramatically among populations of different ethnicity; however, in most cases, C9orf72 mutant has been described on a common founder haplotype. We assessed its frequency in a study cohort involving 593 clinically and electrophysiologically defined ALS cases. We also investigated the presence of reported Finnish haplotype among the mutation carriers. The identified common haplotype region was further screened in 192 (carrying 2-6 G4C2 repeats) and 96 (≥7 repeats) control chromosomes. The G4C2 expansion was observed in 3.2% (19/593) of total cases where 9/19 (47.4%) positive cases belonged to the eastern region of India. Haplotype analysis revealed 11 G4C2-Ex carriers shared the common haplotype (haplo-A) background spanning a region of ∼90 kbp (rs895021-rs11789520) including rs3849942 (a well-known global at-risk loci with T allele for G4C2 expansion). The other 3 G4C2-Ex cases had a different haplotype (haplo-B) with core difference from haplo-A at G4C2-Ex flanking 31 kbp region between rs3849942 and rs11789520 SNPs (allele 'C' of rs3849942 which is a nonrisk allele). Out of other five G4C2-cases, four carried the risk allele T of rs3849942 while one harbored the non-risk allele. This study establishes the prevalence of C9orf72 expansion in Indian ALS cases providing further evidence for geographical predilection. The global core risk haplotype predominated C9orf72 expansion-positive ALS cases, yet the existence of a different haplotype suggests a second lineage (haplo B), which may have been derived from the Finnish core haplotype or may imply a unique haplotype among Asians. The association of risk haplotype with normal intermediate C9orf72 alleles reinforced its role in conferring instability to the C9orf72-G4C2 region. We thus present an effective support to interpret future burden of ALS cases in India.

Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India.

Motor neuron disease (MND) is a progressive neurodegenerative disease. Ideal management plan in MND includes palliative care initiated from the time of diagnosis. At present, most of the neurodegenerative conditions are cared for at home. Neuropalliative care is an emerging concept in India and social workers are integral team members in this process. The primary aims of the study were to explore (a) the caregivers' experiences of the end-of-life stage, and (b) the sources of support for individuals and their caregivers with MND at the end-of-life stage. In-depth interviews were conducted with seven bereaved caregivers of individuals with MND from a national tertiary referral care center for neuropsychiatry in South India. Interviews were conducted either in person or by telephone. Thematic analysis was done using the constant comparative method. Major themes derived from the interviews were: (1) Transition from person to patient, (2) support, (3) death, and (4) impact on the caregivers. Mapping of themes identified "Support received during advanced stages" as the central theme influencing all other themes. The need for a care manager seems evident and is a role that can be effectively fulfilled by the care teams' social workers.

Effect of Initial Periodontal Therapy on Serum Nitric Oxide Levels in Chronic Periodontitis Patients with or without Type 2 Diabetes Mellitus.

AIM: To evaluate the effect of initial periodontal therapy on serum NO levels in chronic periodontitis (CP) patients with or without type2 diabetes mellitus (T2DM) Materials and methods: A total of 90 subjects (group I-30 healthy controls, group I-30 CP and group III-30 CP with T2DM) participated in this study. Groups II and III subjects received initial periodontal therapy. Clinical periodontal parameters (OHI-S, GI, PPD, and CAL) and serum NO levels were evaluated at baseline and 4 weeks after initial periodontal therapy. Serum NO levels were determined by the Spectrophotometric assay based on the Griess colorimetric reaction. RESULTS: Four weeks after initial periodontal therapy both groups II and III exhibited improvement in clinical periodontal parameters (OHI-S, GI, PPD, CAL) and reduction in serum levels of NO from its baseline values (Baseline-Group II: 3.64 ± 0.53, 1.93 ± 0.30, 3.29 ± 0.42, 3.60 ± 0.42, 89.21 ± 1.46 respectively, group III: 3.66 ± 0.44, 2.03 ± 1.32, 3.57 ± 0.40, 3.65 ± 0.45, 85.54 ± 1.54 respectively. Post-treatment-Group II: 1.73 ± 0.42, 1.27 ± 0.23, 3.16 ± 0.46, 3.47 ± 0.58, 70.91 ± 1.68 respectively, group III: 2.39 ± 0.49, 1.71 ± 0.33, 3.44 ± 0.42, 3.61 ± 0.48, 68.69 ± 1.17 respectively). However, statistically significant differences were observed only with OHI-(S) and serum NO values in both groups II and III (p < 0.05). When the baseline values of groups II and III were compared the differences were non-significant except for GI (p < 0.05). However, when the post-treatment clinical periodontal parameters and serum NO level of groups II and III were compared, statistically significant differences (p < 0.05) were observed except for PPD and CAL between the groups. CONCLUSION: NO can be utilized as a good indicator of the inflammatory status of the periodontium. Initial periodontal therapy is effective in reducing serum levels of NO in CP patients with or without T2DM. CLINICAL SIGNIFICANCE: A bidirectional relationship exists between periodontal disease and diabetes mellitus. NO is found to play a significant role in the pathobiology of both CP and T2DM. Initial periodontal therapy seems to be beneficial in reducing serum NO levels along with periodontal parameters in CP patients with or without T2DM. However further studies are warranted to enhance our knowledge about the role of NO in periodontal diseases in the course of diabetes.