A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment.

Mutations in the genes, GJB2 and GJB6 play an important role in autosomal recessive, non-syndromic hearing loss. This study is aimed to detect the association of mutations in GJB2 and GJB6 genes in familial autosomal recessive non-syndromic hearing impairment cases. We included 26 families with at least two affected individuals having congenital bilateral, non-syndromic sensorineural hearing loss. Blood samples were drawn, DNA was extracted, and sent for multiplex PCR and Sanger sequencing. Of the 26 families analyzed, GJB2 mutations were detected in 9(34.6%) and GJB6 mutations were not detected in any of the families. GJB2 mutations are a major cause of congenital, non-syndromic hearing loss in this study population. This study also suggests that GJB6 mutations do not contribute to autosomal recessive non-syndromic hearing loss in the Indian population.

Primary Hyperparathyroidism in a 21 Year Old Patient of Turner Syndrome : A Rare Case Report.

Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many comorbidities like osteoporosis, cardiac anomalies, diabetes and hypothyroidism. Primary hyperparathyroidism caused by parathyroid adenoma is rarely reported in patients of turner syndrome. The exact cause is not known at present. We report a case of a 21 years old patient of Turner syndrome who had symptoms of renal stones and hypercalcemia. USG neck and sestamibi scans revealed left inferior parathyroid adenoma. Surgical excision of the involved gland was done which led to normalization of S. calcium and PTH levels. Although hyperparathyroidism is extremely rare in patients of Turner syndrome, any symptoms of renal stones, pathological fractures and hypercalcemia should raise the suspicion of parathyroid adenoma. Surgical management should be planned as early as possible.

Minimally Invasive Parathyroidectomy as the Surgical Management of Single Parathyroid Adenomas: A Tertiary Care Experience.

The aim of our study is to assess the feasibility, safety and adequacy of focused parathyroidectomy for single parathyroid adenoma accurately localized preoperatively by ultrasound neck and Tc99m sestamibi scan. The study was conducted in the department of Otorhinolaryngology of SMS Medical College and Hospital, Jaipur on 116 patients of primary hyperparathyroidism who underwent minimally invasive parathyroidectomy (MIP) for single gland adenoma localized by USG neck and tc99m sestamibi scans. S. Calcium and S. PTH followed up on day 1, 6th week and 6th month. Outcomes were determined on the basis of cure rate, duration of hospitalization, complication rates and disease persistence/recurrence rate. 82 (70.68%) females and 34 (29.31%) males belonging to the age group of 21-67 years (43.02 ± 14) formed the basis of our study. Skeletal (73.27%) and renal (62.93%) were the most common presentations. Accuracy of USG and sestamibi accurately was 93.10% and 96.55% respectively with combined accuracy of 100%. Preoperative serum calcium levels of 10.7-16.03 mg/dl (13.09 ± 2.11) and serum PTH 127-2196 pg/ml (846.57 ± 776.55) were observed. Cure rate of MIP was 99.13%. No permanent complications seen. MIP can be used as the surgical procedure of choice for PHPT caused by single gland adenoma aided by USG and sestamibi scan. The cure rates are equivalent to the bilateral neck exploration (> 95%) with minimal morbidity and complications. Hence, it is a more feasible, safe and effective treatment option.

Invasive Fungal Infections in Dengue Recovered Patients: A New Phenomenon in the Covid-19 Era.

Invasive fungal rhinosinusitis was seen to rise to epidemic levels after the 2nd wave of ongoing Covid pandemic, especially in tropical countries, maximally in India. A similar trend is being observed for cases who have recently recovered from dengue virus infection. Post dengue invasive fungal infection is a new presentation and any associations between it and Covid pandemic need to be studied in detail to help prepare for any complications. 3 patients presented to the out-patient department of E.N.T at a tertiary level teaching hospital in East India with complains similar to rhinosinusitis. These patients were then evaluated and diagnosed to be infected from Mucormycosis and Aspergillosis fungal sinusitis after which they were managed with surgical debridement and systemic antifungal therapy. All had a recent history of recovery from Dengue virus infection and a possible association could be suspected. 3 patients presented with complains of pain over upper jaw with orbital swelling and loss of vision developing over a period of 24 days. Two of them had ulceration of hard palate. They were then subjected to Contrast MRI along with CT scan of the Paranasal sinuses which depicted pansinus involvement with intracranial extension in two patients. These were then planned for diagnostic nasal endoscopies along with biopsies which turned out to be Invasive fungal sinusitis in the form of Aspergillosis and Mucormycosis. All the 3 patients had recent history of recovery from Dengue virus infection and did not have any other co-morbidities. Covid Associated Mucormycosis (CAM) is a well-known entity now but no reports of Dengue associated Invasive fungal sinusitis are yet reported. Whether this new phenomenon has anything to do with the interactions between dengue virus and coronavirus is not known at present and needs to be studied in detail so appropriate management protocols can be formulated.