Parth Purwar

Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.

Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4. The case report presented here describes JS with distinct phenotypic variations such as situs inversus totalis (SIT) along with additional ophthalmic findings such as keratoconus and ectopia lentis. It is the first case of JS reported from the Indian subcontinent, affecting a male patient of Muslim faith from an area having high fluoride levels in the ground water. A positive history of consanguineous marriage among his family members of past generations was also evident.

Salivary and Serum Leptin Concentrations in Patients With Chronic Periodontitis

BACKGROUND The discovery of leptin has led to the elucidation of a robust physiologic system that not only maintains fat stores but is also an integral part of the host defense mechanism. However, leptin concentrations in the saliva of patients with chronic periodontitis (CP) has not been explored despite the potential role of salivary biomarkers in determining the presence, risk, and progression of periodontal disease. METHODS Eighty-four participants (44 with generalized severe CP and 40 without periodontitis) were enrolled. For each patient, the values of periodontal parameters were recorded, such as plaque index (PI), gingival index (GI), probing depth (PD), clinical attachment loss (AL), and percentage of sites with bleeding on probing (BOP) and clinical AL ≥5 mm. Saliva and serum samples were collected to estimate the leptin concentrations using enzyme-linked immunosorbent assay kits. Statistical analysis was performed using software. RESULTS Participants with CP demonstrated significantly higher BOP, PI, GI, and percentage of sites with clinical AL >5 mm (P <0.05). Leptin was detectable in all the clinical samples. Salivary leptin concentrations in patients with CP were significantly lower than in healthy volunteers (6,200.61 ± 2,322.11 versus 8,799.60 ± 901.70 pg/mL), whereas serum leptin concentrations were significantly higher in patients with CP than in healthy volunteers (11,600.00 ± 1,705.01 versus 7,616.62 ± 1,169.83 pg/mL). In addition, the results reflected a significant negative correlation of salivary leptin and a positive correlation of serum leptin with PD (P <0.05). CONCLUSION The results suggest that leptin concentrations in saliva and serum are significantly altered in CP and relate closely to current disease activity; however, further studies are needed to confirm the findings.

Conflation of gingival overgrowth and schwannoma.

The authors describe a seminal case report of a 10-year-old boy with enlarged gingivae in relation to his maxillary anterior teeth. The lesion, provisionally diagnosed as idiopathic gingival enlargement, was completely excised and divided into two sections. The histological and immunohistochemical findings in one of the sections showed it to be characteristic of schwannoma while the other section showed indications of idiopathic gingival enlargement. The patient has been followed up carefully and no recurrence has been noted.

The effects of periodontal therapy on serum and salivary leptin levels in chronic periodontitis patients with normal body mass index

Abstract Summary. Leptin concentrations are altered in favour of pro health after periodontal therapy. Background. Leptin, a non-glycosylated peptide hormone, not only maintains fat stores, but is also an integral part of host defense repertoire. Leptin levels have been found to be altered in an array of inflammatory diseases including chronic periodontitis (CP), but the role of non-surgical periodontal therapy (NSPT) in altering the leptin concentrations in saliva and serum of CP patients is yet to be ascertained. The aim of the present study is to quantify leptin levels in CP patients having normal body mass index (BMI) pre-therapy as compared to periodontally healthy controls and to address whether successful NSPT alters leptin concentration in serum and saliva. Materials and methods. Twenty-two saliva (modified draining method) and serum samples (by venipuncture) were collected from CP patients with normal BMI (n = 22), before and at 4 and 12 weeks after completion of NSPT, and periodontally healthy, age- and gender-matched controls (n = 22). Leptin levels were estimated using enzyme linked immunosorbent assay kits. Results. At baseline, CP patients had significantly different periodontal clinical parameters and the leptin concentrations in saliva of CP patients were found to be significantly lower than periodontally healthy volunteers (4710.10 ± 1133.21 vs 8721.10 ± 1019.58 pg/ml) (p < 0.05), whereas in serum the leptin concentrations were significantly higher than healthy controls (10749 ± 2062.24 vs 8085.00 ± 2859.68 pg/ml). Significant improvement in periodontal parameters, serum and salivary leptin levels were observed in CP patients at 4 and 12 weeks post-therapy (p < 0.01). Conclusion. Altered concentrations of leptin in serum and saliva are observed in CP patients which can be restored in favor of health after periodontal therapy.

CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia

CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia A 35 year old male patient with family history of dental and ocular features, presented with chief complaint of discolored teeth since childhood and inability to see clearly during daytime reported to the O.P.D of Periodontology, King George’s Medical University, Lucknow, Uttar Pradesh. Henceforth, we suspected the presenting medical condition as syndromic and following investigations were carried out to establish the definitive diagnosis of the case so that appropriate management can be rendered to the patient as well as family members. Routine blood investigations, orthopantomogram (OPG), anterior segment and posterior segment examination was carried out. Advanced macular visualization on spectral domain optical coherence tomography (SDOCT) of retina was also performed. Additionally, chest X-ray and ultrasonography of whole abdomen (USG- abdomen) were also performed. To corroborate the phenotypic disorders with genotype, array based Comparative Genomic Hybridization (aCGH) was performed on the patient’s blood. Through Dental (clinical and radiographic), Opthalmic, X-ray/Ultrasound and Laboratory diagnosis diagnosed the patient as a phenotype with co-morbid occurrence of X-linked Hypoplastic Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus with oligozoospermia respectively. Further, through aCGH, the identified Copy Number Variations corroborated with the phenotypic features and were also reported in Decipher Database. Hence, the present case with multiple disorders (affecting multiple organs) suggest multi- factorial etiology involving Decipher Database reported MIR4424, NTRK1, UGT2B15 MSR1 PAK6 MIAT, ARHGAP4, XG and novel MIR1256, TMSB15B, H2BFXP, H2BFWT, H2BFM genes.

Gingival Overgrowth Leading to the Diagnosis of Familial Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC), a neurocutaneous syndrome, is characterized by the development of benign tumours affecting different body systems. We herein present a report of a 40-year-old female patient presenting with dental enamel pits and localized gingival overgrowth that eventually lead to the diagnosis of a case of familial TSC. Diagnosis of familial TSC by comprehensive oral examination and detection of oral manifestations proved to be inevitable as it resulted in institution of appropriate treatment strategies and genetic counselling of the affected family.

Nasal Sinus Tract of Odontogenic Origin: Report of a Case

Extraoral sinus tract often poses a diagnostic challenge to the clinician owing to its rare occurrence and absence of symptoms. The accurate diagnosis and comprehensive management are inevitable as the aetiology of such lesions is often masked and requires holistic approach. The present case report encompasses the management of an extraoral discharging sinus tract at the base of the right nostril in a chronic smoker. The lesion which was earlier diagnosed to be of nonodontogenic origin persisted even after erratic treatment modalities. Our investigations showed the aetiology of sinus tract to be odontogenic. Initially, a five-step program as recommended by the Agency for Health Care Research and Quality was used for smoking cessation followed by root canal therapy (RCT) and surgical management of the sinus tract. The patient has been under stringent follow-up and no reoccurrence has been noted.

Coverage of denuded labial bone resulting from post space preparation with a free gingival autograft: lessons learnt.

Rehabilitation of endodontically treated teeth by post and core preparation is a common procedure in day to day dental practice. However, in some instances, post space preparation can produce excessive frictional heat leading to significant damage to the attachment apparatus of the tooth as well as to the overlying soft tissue. This report describes a case of mucosal dehiscence arising due to trauma induced by inadvertent post space preparation. The denuded mucosa was restored to its physiological position with the help of free gingival autograft obtained from the palatal donor site. The aesthetic results obtained were excellent and have been stable for a period of 2 years.

‘Granuloma gravidarum’: persistence in puerperal period an unusual presentation

Granuloma gravidarum (GG), an inflammatory lesion, develops in the oral mucosa of pregnant women in response to chronic low-grade irritants and hormonal factors. A persistent granuloma gravidarum post partum and appropriate management strategies are discussed. Patients must be encouraged to undergo regular dental check-ups during the gestational period. Simple oral hygiene measures are highly effective in combating most oral lesions encountered in pregnancy.

Ancillary role of vitamin C in pink aesthetics

A smile expresses feelings of joy, affection and self-confidence in an individual. Melanin hyperpigmentation of the gingiva jeopardises the aesthetics of an individual significantly. In the present case, gingival depigmentation was performed with a surgical scalpel along with local applications of ascorbic acid, yielding satisfactory aesthetic results with low subjective pain levels, and no recurrence has been observed after 9 months of follow-up.