Digenic or oligogenic mutations in presumed monogenic disorders: A review

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

effect of sedation during upper gastrointestinal endoscopy

We aimed to study whether sedation reduces discomfort during endoscopy and a comparison of longer-acting diazepam with shorter-acting midazolam. A prospective, randomized, single-blinded study was conducted at the Department of Medicine at Government Medical College and Hospital, Chandigarh, and was completed over a period of 6 months. The patients were randomized to receive either placebo or sedation with midazolam or diazepam before endoscopy. The endoscopist and the observer recording patient's/physician's responses were blinded to the drugs administered. Two hundred and fifty two consecutive patients undergoing diagnostic or therapeutic upper gastrointestinal endoscopy were recruited. The patient's discomfort and the physician's comfort during the procedure were recorded on a visual analogue scale rated from 1-10 with-in 10 minutes of the procedure by an independent observer. The Patient's discomfort ratings were further divided into 3 groups, comfortable [score, 1-3], satisfactory [score, 4-7] and uncomfortable [a score of >7]. Similarly the physician's ease of performing the procedure was also recorded on the same scale. This was again divided into 3 groups: easy [score, 1-3], satisfactory [score, 4-7] and difficult [a score of >7]. Out of the total of 252 patients, 82 patients received no sedation [group I], 85 received diazepam [group II] and 85 received midazolam [group III]. There was no statistical difference in the discomfort experienced by the patients during endoscopy when sedation was used [P=0.0754]. Out of 252 patients, 49 underwent endoscopic procedures. Nineteen patients were included in group I, 18 in group II and 12 in group III. Only 10 [20%] patients undergoing endoscopic procedures complained of significant discomfort, but there was no difference in the ones undergoing interventions with or without sedation [P=0.854]. The physicians were more comfortable in performing endoscopic procedure in sedated patients, however, the difference between patients in group II and group III was not statistically significant [P=0.0461]. Both diazepam and midazolam fared equally well in increasing physician's comfort [P=0.617]. There was no difference in the patient's discomfort with regard to the sedative used [midazolam or diazepam]. Although endoscopy was easy or satisfactory in the majority of patients in the unsedated as well as the sedated groups, more often the endoscopist found it difficult to do endoscopy on the unsedated patients

Hearing aid provision in the aged

An analysis of 100 patients aged over 60 years, referred by the general practitioners to the Department of ENT, for the provision of a hearing aid is presetned, 57% of the patients have treatable disease, on examination, and do not need the hearing aid. Use of hearing aid in the aged without an otologist consultation carry a risk of loosing diagnosis and treating a condition. It is suggested that every person with hearing loss should be examined by an ENT specialist before hearing aid should be provided

Antroscopic study of the maxillary antrum in atrophic rhinitis

Antroscopy is the best method for diagnosis of chronic sinus disease without any surgical or operative exploration. Antroscopy was performed in 20 patients with atrophic rhinitis to find out the type, nature and site of the lesion. Various types of lesions like inflammation, atrophic changes with crusting, thick mucosa, non-specificgranuloma etc. were seen in the antrum. It is suggested that the involvement of maxillary antrum in 55% of atrophic rhinitis patients act as a reservoir of infection causing frequent reinfection resulting in constant factor. So it is suggested that these patients should be managed surgically for antral pathology

Secretomotor dysfunction in etiopathogenesis of rhinolith

Secretomotor dysfunction seems to be an important factor in the formation of a rhinolith. The possible pathophysiology of the process is described in the light of literature

Olfaction in hypothyroidism

The sense of smell was assessed in a group of 60 patients of hypothyroidism. The method used and the results obtained are presented. Overall 22-26 percent of patients showed some degree of olfactory dysfunction. Loss of smell is found to be related to severity of hypothyroidism. The possible reasons for anosmia in hypothyroid state is discussed