Publications by authors named "N Nanjundappa"
Article Synopsis
- Piebaldism is a rare genetic disorder characterized by congenital leukoderma due to a mutation in a specific proto-oncogene receptor tyrosine kinase.
- A 10-year-old boy was diagnosed with piebaldism after presenting with depigmented macules, café au lait macules, and skin fold freckling, which complicated the diagnosis.
- Exome sequencing confirmed the diagnosis by identifying a pathogenic variant, enhancing our understanding of the tyrosine kinase function, and clarifying that these symptoms do not imply an overlap with Neurofibromatosis type 1.
Type 1 diabetes mellitus (T1DM) is one of the most prevalent chronic diseases in children and adolescents with the risk of development and progression of chronic complications. This study evaluates the pulmonary functions with spirometry in children with T1DM in relation with glycemic control. Ninety-six children with T1DM were matched with 102 healthy controls.
View Article and Find Full Text PDFBackground: Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.
Case Characteristics: A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies.
A 54-year-old man presented with a recurrent swelling on the right occipital region of the scalp. Two months earlier, the patient had undergone an initial local excision of the lesion which had enlarged progressively over the previous 2 years on a hairless patch which had been present since birth. On examination, a 5 x 4-cm, pinkish, firm, ulcerated swelling was seen on the right occipital region with a scar running over it.
View Article and Find Full Text PDFThis prospective study analyzes the feasibility, oncologic safety and functional utility of Pearson's near-total laryngectomy with tracheopharyngeal shunt (NTL-TPSS). The procedure was found to give gratifying locoregional control in 30 consecutive advanced T3 and selected T4 tumors involving the larynx (n = 11) and hypopharynx (n = 19) and managed at Kidwai Memorial Institute of Oncology, Bangalore, India. The oncologic "safety" of this technique was established in following examinations, ranging from 18 to 44 months (median, 22.
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