Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in FLNB, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.

EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY.

We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Fifty three Indian families with provisional diagnosis of Duchene muscular dystrophy or Becker muscular dystrophy were evaluated by MLPA and multiplex polymerase chain reaction (PCR). Sanger sequencing was used to analyze the entire gene in one patient. Mothers were tested for carrier status whenever possible. Molecular analysis of DMD gene by combining MLPA and multiplex PCR yielded a mutation detection rate of 62% (33/53). Deletions were detected in 27/53 (51%) cases, duplications in 5/53 (9%) cases, a small deletion one case and Sanger sequencing detected a nonsense mutation in one case. Mutation was not detected in 36% (19/53) cases. Fifty six percent of mothers (9/16) were found to be carriers. MLPA helped to refine the results of multiplex PCR testing in 22 patients (5 duplications, 16 deletions and one small deletion). We also describe a situation where a deletion of single exon on MLPA (but not detected by multiplex PCR) was actually due to a deletion of two nucleotides in the probe ligation site. MLPA appears to score over multiplex PCR in diagnosis and carrier detection, specifically by detecting deletions and duplications that are not detected by traditional multiplex PCR.

Fluoride content and labelling of toothpastes marketed in India.

OBJECTIVE: To enumerate the fluoride content and labelling practices of toothpastes marketed in India and to determine if the content is in accordance with the information provided on the packaging. METHOD: In vitro analysis of total and free available fluoride in 5 adult and 5 children's fluoride toothpastes in India using fluoride ion electrode. Information on the tube and carton was checked to assess the labelling. RESULTS: The mean Total Fluoride concentrations (TF) in the toothpastes labelled 1,000 ppm, 500ppm and 458 ppm were 1,000, 500 and 449mg/L (sd values 3, 5 and 4mg/L) respectively. The toothpastes' Total Soluble Fluoride (TSF) concentration was generally slightly less than the TF concentration. Overall mean percentage of TSF concentration was 94% sd 9%. The mean percentage of TSF concentration in SMFP (sodium monofluorophosphate)/CaCO3 (calcium carbonate) containing toothpastes was 86% sd 16% while that in NaF (sodium fluoride)/Si (silica) based toothpastes was 98% sd 1% and 95% sd 1% in the remaining toothpastes with unknown abrasive. NaF/Si based toothpastes had more TSF concentration than the others (p<0.05). All the information required by the Indian regulations was shown on all 10 toothpastes. CONCLUSION: The available fluoride content of one of the ten toothpastes was substantially less than the total fluoride content. Although the toothpastes were labelled following the guidelines of the regulatory body of India, 3 of the 10 failed to mention the abrasive present.

Pulpal response to nano hydroxyapatite, mineral trioxide aggregate and calcium hydroxide when used as a direct pulp capping agent: an in vivo study.

UNLABELLED: Nano hydroxyapatite (Nano-HA) and Mineral Trioxide Aggregate (MTA) because of its better qualities can be used as an alternative to calcium hydroxide in direct pulp capping procedures. The aim of the study was to compare the response of exposed human pulp to Nano-HA, Mineral Trioxide Aggregate and calcium hydroxide. STUDY DESIGN: The study was done on 30 premolars, ranging from patients between 11-15 years. Intentional pulp capping was done using one of the experimental materials. The extracted teeth were then subjected to staining procedure and evaluated for dentin bridge and pulpal response after 15 and 30 days. Intragroup comparisons of the observed values were analyzed using Chi-square test. RESULTS: Nano-HA and MTA produced continuous dentin bridges. Dentin bridge that was formed in MTA group had regular pattern of dentinal tubules but no tubules were seen in the nano-HA group. Dentin bridge was not observed in Dycal group for the 15 days period in majority of the sample and by 30 days dentin bridge was observed that were both continuous and interrupted in equal number of samples. The initial inflammatory response and necrosis was more with Nano-HA and calcium hydroxide which reduced with time. CONCLUSION: MTA showed no inflammatory changes in majority of the samples in both the study periods. Necrosis was least observed in MTA group followed by Nano-HA. Vascularity increased in Nano-HA group in the initial periods which reduced with increasing time. Based on the ability of nano-HA to produce complete dentinal bridges, favorable cellular and vascular response, the material could be considered as an substitute and could be tried used as a direct pulp capping agent.

Addition of nisin to high-viscosity glass-ionomer cement: a comparative in vitro study on antibacterial and physical properties.

PURPOSE: Nisin is a lantibiotic effective against Gram-positive microorganisms such as Streptococcus mutans. The study aimed to determine the effect of the addition of nisin to high-viscosity glass-ionomer cement (HVGIC) on its antibacterial activity, setting time, surface microhardness, and compressive strength. METHODS: 1 and 3% w/w nisin were added to HVGIC before mixing. Unmodified HVGIC was the control. Agar disc diffusion, direct contact test, and scanning electron microscopy (SEM) analysis were used to evaluate antibacterial activity against S. mutans. Setting time, surface microhardness, and compressive strength were measured using Gilmore needle apparatus, digital microhardness tester, and universal testing machine, respectively. Statistical analysis included Student's t test, one-way ANOVA with Tamhane's post hoc test, and repeated-measures ANOVA. RESULTS: As evidenced by the agar disc diffusion (p < 0.001), direct contact tests (p = 0.025), and SEM analysis of the S. mutans cell count and cell surface area (p = 0.049 and 0.003), 3% nisin had the strongest antibacterial activity. There was a dose-dependent increase in setting time (p = 0.005) and surface microhardness (p = 0.006), with no significant difference in compressive strength compared to control. CONCLUSION: The addition of 3% nisin to HVGIC enhances the antibacterial action against S. mutans and surface microhardness without adversely affecting setting time and compressive strength.

Early Childhood Caries and Dental Care Utilization in Mangalore, India: Parents' Perceptions.

BACKGROUND: Parents often underuse dental care services for their children with early childhood caries (ECC), resulting in a high burden of untreated dental caries. AIM: To describe parental perceptions and challenges in dental care utilization for their children with ECC. DESIGN: A descriptive qualitative study was conducted with parents of children with ECC seeking dental care in Mangalore, India. Data were collected through focus group discussions using an interview guide. Manual line-by-line coding and content analysis methods were used for data analysis. RESULTS: Three categories were generated from data obtained through 5 focus groups of 27 participants: dental care visiting patterns, the significance of dental visits, and challenges to dental care utilization. Parents would only visit the dentist when they perceived their children's tooth problems. The challenges faced include time constraints, misinformation, lack of awareness and motivation, costs, fear, and anxiety of the children and the parents themselves. Parents perceived improvements in the awareness of their children's oral health and quality of life after dental visits. CONCLUSION: Attending dental services to treat their children's tooth problems was the primary way of attaining awareness about prevention among the parents of children with ECC. Increased oral health awareness and improved quality of life can motivate parents to seek further dental care for their children. Collaboration with multidisciplinary stakeholders is required to improve oral health awareness among parents of children with ECC. KNOWLEDGE TRANSFER STATEMENT: The study's results will help plan targeted preventive programs for children with ECC. The study suggests dental care utilization by children with ECC is based on parental perceptions of their children's tooth problems. It outlines the challenges that affect dental visits of children with ECC and the role of multidisciplinary stakeholders. Improved oral health awareness and quality of life following dental treatment can facilitate further dental visits.

Defluoridation techniques implemented by the government of karnataka, india - the current situation.

INTRODUCTION: Karnataka is an Indian state which has regions with endemic fluorosis. OBJECTIVE: To assess the various defluoridation techniques and units implemented by the Government of Karnataka, along with the cost of installation, maintenance and repair, to mitigate the problem of fluorosis. METHODS: Information regarding the various defluoridation units was obtained from the Panchyath Raj Engineering office before they were visited. Local authorities and residents were interviewed regarding the reasons behind the success or failure of the units. RESULTS: Of the 100 reverse osmosis units installed, 77% are defunct, only one of the two state-of-the-art solar-based technique units is currently functioning but none of the activated alumina or Nalgonda technique units. CONCLUSION: Defluoridation units suitable for Indian conditions and operation by unskilled villagers have yet to be developed.

Practice-based, clinical trial of a silorane-based composite resin system in posterior teeth.

INTRODUCTION: Newer monomer systems have been introduced in an attempt to improve the success rate of direct composite restorations by minimising shrinkage. AIMS AND OBJECTIVES: To evaluate the in vivo performance of a silorane-based resin composite system (Filtek Silorane, also known as P90), used together with a two-step self-etch bonding system (P90 System Adhesive, Self-Etch Primer and Bond), for the restoration of Class I and Class II cavities in human permanent posterior teeth. MATERIALS AND METHODS: A total of 53 restorations were completed and patients were recalled one year later. The restorations were assessed by two ndependent clinicians, using the Modified U.S. Public Health Service evaluation criteria for the following parameters: retention, colour match, marginal discolouration, secondary caries, anatomic form, marginal adaptation, surface texture, occlusal and interproximal contacts. RESULTS: Of the 41 restorations assessed at the one year follow-up, 92.7% showed clinically acceptable scores for all the parameters evaluated. Cronbach's alpha values ranged from 0.72-1.00 showing a good inter-examiner agreement and reliability. CONCLUSION: Silorane-based composite, Filtek Silorane, when used in conjunction with the recommended adhesive system showed a clinically acceptable performance in posterior teeth restorations over a one year clinical service.

Clinical effectiveness of alkasite versus nanofilled resin composite in the restoration of occlusal carious lesions in permanent molar teeth of children: a randomized clinical trial.

PURPOSE: To evaluate and compare the clinical effectiveness of alkasite with nanofilled resin composite restorations for occlusal caries lesions in permanent molar teeth of children, at one-year follow-up. METHODS: In this randomized controlled clinical trial with parallel design, 38 children aged 7-13 years with occlusal caries lesions on 59 first permanent molars were randomly allocated into two groups, Group 1: Filtek™ Z350XT (nanocomposite) and Group 2: Cention N® (alkasite resin composite). The restorations were evaluated at one year using the United States Public Health Service (USPHS) criteria. Data were analyzed using Chi-square or Fisher's exact test. RESULTS: All restorations had either Alpha or Bravo scores at one-year follow-up. In Group 1, all restorations scored Alpha, while one restoration each (3.6%) in Group 2 scored Bravo for fracture and marginal adaptation. All restorations in both groups scored Alpha for retention, secondary caries, and post-operative sensitivity. For anatomic form, all restorations in Group 1 scored Alpha, while three (10.7%) restorations in Group 2 had Bravo scores. For marginal discolouration, three restorations in both groups scored Bravo (11.5% and 10.7%, respectively). For surface roughness, one restoration (3.8%) in Group 1 and three restorations in Group 2 (10.7%) scored Bravo. The comparative results between the two groups for all the variables in the USPHS criteria were not statistically significantly different. CONCLUSIONS: The performances of the nanofilled composite and alkasite were clinically acceptable and comparable. Alkasite can be an alternative material for the restoration of occlusal caries lesions in permanent molars of children. CLINICAL TRIAL REGISTRATION: The clinical trial was registered at Clinical Trials Registry-India (CTRI Reg no: CTRI/2020/12/029830 Dated: 15/12/2020).

Effect of Bacillus coagulans Unique IS2 with Lactulose on Functional Constipation in Adults: a Double-Blind Placebo Controlled Study.

In the present double-blind randomised study, the efficacy of combination of Bacillus coagulans Unique IS2 and lactulose was evaluated in the treatment of functional constipation in adults. One-fifty participants diagnosed with functional constipation (Rome III criteria) were randomised (1:1:1) and supplemented daily with 15 mL suspension of probiotic (B. coagulans Unique IS2, 2 × 109 spores) with lactulose (10 g) (group 1) or lactulose (10 g) (group 2) or placebo (water) (group 3) for 4 weeks. The primary (stool frequency) and secondary outome measures (stool consistency, sensation of incomplete evacuation, defecation- and abdominal-pain) were recorded weekly for up to 4 weeks. Bacillus coagulans Unique IS2 with lactulose showed significant changes in stool frequency as compared to lactulose treatment; however, at the end of the trial, it was found insignificant due to the gradual increase of stool frequency score of lactulose treatment. The changes observed in stool consistency were early (2nd week) and remained consistent up to end of the trial. The significant reduction of sensation of incomplete evacuation, defecation-, and abdominal-pain correlated with the strains ability to produce short-chain fatty acids. No adverse events were observed in any of the groups, and all the vital parameters were normal during the course of the study. Overall, results indicated that B. coagulans Unique IS2 addition to lactulose reduced time required to relieve constipation as compared to lactulose alone. In conclusion, B. coagulans Unique IS2 with lactulose is more effective than lactulose alone to relieve symptoms of constipation in a shorter period. Trial registration: CTRI/2018/11/016399, dated 22/11/2018.

Early Feeding and Weaning Practices of Indian Children with Early Childhood Caries: A Qualitative Exploration.

OBJECTIVE: To describe the early feeding, weaning, and oral hygiene practices of children with early childhood caries (ECC), their parents' knowledge and attitudes regarding infant feeding, and the feeding-related challenges faced by the parents. METHODS: This descriptive qualitative study involved parents of children with ECC who sought dental treatment at an academic dental college in India. Data were collected though focus groups conducted with the 27 parents of children with ECC, using a focus group discussion guide. Data were analyzed using the content analysis method. RESULTS: Community norms, such as learning from the older women in the families or neighborhoods, guided the feeding method, duration of feeding, and weaning. Breastfeeding or bottle-feeding at bedtime beyond 12 mo of age and feeding sugary drinks during weaning were standard practices, despite knowing the risk for dental caries. Parents faced multiple challenges regarding weaning and were unaware of the significance of infant oral hygiene practices. CONCLUSION: In children with ECC, infant feeding practices included prolonged breastfeeding or bottle-feeding beyond the required age, feeding at bedtime, and feeding sugary drinks. Although the parents knew that these feeding habits could increase the risk for caries, they lacked the self-efficacy to translate their knowledge into action during weaning. Also, they lacked awareness regarding infant oral hygiene practices. KNOWLEDGE TRANSFER STATEMENT: The study provides information on the feeding habits of infants that can increase the risk for caries, the challenges faced by the parents of these children in altering these risky habits, and their lack of knowledge on infant oral hygiene practices. Policy/decision makers can advocate for pediatricians and pediatric dentists to incorporate anticipatory guidance or motivational interviewing techniques to tailor the preventive program for ECC for Indian children.

Rare treatable limb girdle muscle disease.

We report two cases of Limb Girdle pattern of muscle weakness caused by hyperparathyroidism due to parathyroid adenoma. It can be easily missed as early symptoms are non specific but once diagnosed it is easily treatable and complete recovery occurs over a period of time.

A Comparative Study Between Plate Fixation and Intramedullary Fixation for Displaced Mid-Shaft Clavicle Fractures in Adults.

Introduction: Clavicle fractures are frequently encountered by orthopaedic surgeons. Though multiple treatment techniques have been described in literature, open reduction and internal fixation with plating and intramedullary nailing are preferred in adults. This study analyses the functional outcome, complications, duration of bony union of mid-shaft clavicle fractures treated with plate fixation versus intramedullary fixation. Materials and methods: A quasi-experimental study was conducted on 38 patients with mid-shaft clavicle fracture aged between 18 to 60 years at a tertiary care centre in South India. Nineteen patients were treated by plate fixation and 19 patients underwent intramedullary nail fixation. Every alternate patient with mid-shaft fracture clavicle was treated with plate osteosyntheses or nailing. Results: The average age of presentation was 42 years in plate fixation and 31 years in nail fixation group. Robinson's classification type 2B1 was the most common type of fracture in both groups. The Visual Analogue Scale (VAS) score reduced significantly from pre-operative to postoperative day 1 in both the groups but there was no significant difference between the two groups. The Disabilities of the Arm, Shoulder and Hand (DASH) score at 6, 12 and 24 weeks reduced significantly in both the groups but showed no statistically significant difference between the two groups. However, intramedullary nail fixation group had a shorter duration of hospital stay and showed an earlier improvement in the DASH score during the first six months after surgery. Complications included implant loosening (three patients) in plating group and implant failures (two cases) in nailing group. Conclusion: There is a role for surgical intervention for certain cases of displaced and comminuted clavicle fracture in order to avoid malunion or non-union and their potential long-term sequelae. Both the surgical modalities of plating, and nailing provide good functional outcome and allow early return to occupational activities.

Effect of active and passive distraction techniques while administering local anaesthesia on the dental anxiety, behaviour and pain levels of children: a randomised controlled trial.

PURPOSE: The aim of the study was to compare the effect of a stress ball, an active distraction technique with audio-visual eyeglasses, a passive distraction technique during local anaesthesia administration, on dental anxiety (primary outcome), behaviour and pain levels of children (secondary outcomes). METHODS: In this randomised controlled parallel arm trial involving 123 children aged 8-12 years, who required dental treatment under inferior alveolar nerve block, children were randomly allocated into the following three groups: Group 1: Stress ball, Group 2: Audio-visual eyeglasses, Group 3: Control group (basic behaviour guidance without distraction). Dental anxiety was measured using modified child dental anxiety scale and pulse rate, behaviour was rated using Venham's scale and pain was measured by both self-reporting and observational scales. RESULTS: No significant difference between the groups was observed for dental anxiety, but a significant decrease was seen in dental anxiety scores within all groups. No significant differences were seen between the groups for behaviour ratings and pain scores. CONCLUSION: Use of active stress ball distraction or passive audio-visual eyeglasses during local anaesthesia administration decreased dental anxiety but did not result in a significant improvement in the dental anxiety, behaviour and pain levels when compared to basic behaviour guidance without distraction. CLINICAL TRIAL REGISTRATION: The clinical trial was registered at Clinical Trials Registry-India (CTRI Reg no: CTRI/2019/04/018768, Dated 24 April 2019).

Two cases of a rare treatable limb girdle muscle disease.

We report two cases of limb girdle pattern of muscle weakness caused by hyperparathyroidism due to parathyroid adenoma. It can be easily missed as early symptoms are non specific but once diagnosed it is easily treatable and complete recovery occurs over a period of time.

Water jet dissection technique for endoscopic third ventriculostomy minimises the risk of bleeding and neurological complications in obstructive hydrocephalus with a thick and opaque third ventricle floor.

BACKGROUND: Endoscopic third ventriculostomy (ETV) is a procedure of choice in the treatment of obstructive hydrocephalus. Neurovascular injury while perforating the ventricular floor can occur when using a conventional probe, especially in patients with a thick and opaque third ventricle floor. The water jet dissection technique can be useful in such cases to perform an initial perforation. PATIENTS/MATERIAL AND METHODS: The water jet dissection technique was used to perform ETV in 36 patients with obstructive hydrocephalus with a thick and opaque third ventricle floor over a 3-year period. A water jet was generated using a syringe connected to a 2-mm catheter. RESULTS: The water jet dissection technique successfully created a patent ETV stoma in 31 patients. 5 patients needed a re-operation due to a blocked stoma. There were no complications related to the procedure. An improvement in clinical function was seen in 28 (83.3%) patients at a median follow-up of 29 months. CONCLUSION: The water jet dissection is a useful technique while performing ETV to prevent neurovascular injury. Our improvised technique of creating a water jet is safe, inexpensive, readily available and can be practiced at any centre performing ETV.

Conjunctival intraepithelial neoplasia in an HIV-positive patient.

We describe the case of a 37-year-old African woman with an asymptomatic lesion on her right conjunctiva; histology of the lesion revealed the presence of conjunctival intraepithelial neoplasia. HIV-positive patients from Africa are at increased risk of developing conjunctival malignancies, and early diagnosis and treatment can prevent serious consequences.

Relevance of anti-BmR1 IgG4 antibodies in children from an area endemic for Brugia malayi infection in Kerala, India.

Brugian filariasis prevalent mostly in South-East Asian countries including India contributes to a small but significant proportion of the socioeconomic burden due to lymphatic filariasis. Along with bancroftian filariasis, brugian filariasis has been targeted for elimination globally. The lack of a reliable daytime diagnostic test has been seen as an important barrier to the successful implementation and monitoring of elimination programmes in brugia endemic areas. We evaluated an anti-BmRI-IgG4 antibody test namely, 'Brugia Rapid' in a large study meant to understand the clinical and pathological manifestations of brugian filariasis in children. We found the test superior to traditional night blood screening for microfilaraemia. Although an antibody detection test, we found it to be a reliable indicator of brugian infection. Among the 100 children studied extensively, 94% of the microfilaraemics, 86% of those showing filarial dance sign indicating presence of, live adult worms and 78% having abnormal lymphatics on lymphoscintigraphy were IgG4 positive. Coupled with its advantages like ease of use any time of the day, high sensitivity and specificity, this test may be the ideal tool to assist programme managers in their efforts to eliminate lymphatic filariasis where brugian infections are found.

An in-vitro animal bone model study to predict spiral fracture strength of long bones in the young infant.

INTRODUCTION: The risk of fracture from a non-accidental injury is highest in the infant age group. A spiral fracture of the long bone can occur equally from accidental and non-accidental causes, meaning the clinical judgement of non-accidental injury in an infant is particularly challenging. This study aimed to assist in differentiating accidental, from non-accidental, injury in infants, by establishing whether correlation exists between geometry and torsional strength in the immature long bone. METHODS: Immature porcine third and fourth metacarpals (n = 21) were imaged with a dual energy x-ray absorptiometry (DEXA) scanner to measure their linear bone mineral content (BMCL), bone mineral density (BMD) and section modulus (Z). The specimens were then subjected to a torque of one degree per second until failure. The failure strength and the three DEXA measures were analyzed for a correlation. RESULTS: The mean failure strength of 11 successful tests was 13.71Nm (+/-SD 2.42Nm), with correlation to BMCL, BMD and Z described by r2 = 0.81, 0.283 and 0.75 respectively. CONCLUSION: This study is a novel attempt at estimating torsional strength of long bones in a specific paediatric age group using a size-matched animal bone model. It found a strong correlation between bone and fracture strength parameters over the BMCL range of 0.59-0.77 g/cm.

Survival trends in osteosarcoma of humerus.

Management of osteosarcoma has evolved during the last 50 years. A review of 53 cases of osteosarcoma affecting the humerus included in the Scottish Bone Tumour registry from 1950 to 2000 is presented. Survival trends and the various factors influencing survival during this period are analysed. Patients were chronologically divided into two cohorts, one presenting before 1975 (18 patients) and the other presenting after 1975 (35 patients). The second half of the study period (1975 onwards) was characterized by availability of new treatment modalities like limb salvage and chemotherapy. A distinct improvement in survival was noted during the second half of the study (35% 5 years survival post 1975 vs. 18% pre 1975, P = 0.007). Survival and metastasis appeared to depend on multiple factors. Chemotherapy in isolation did not significantly affect survival. Limb salvage surgery did not have an adverse effect on survival rates. This improvement in survival could be due to a change in the natural history of the disease along with advances in diagnostics and therapeutics.