Aga Khan University Hospital

About: Aga Khan University Hospital is a healthcare organization based out in Karachi, Pakistan. It is known for research contribution in the topics: Population & Medicine. The organization has 3001 authors who have published 3485 publications receiving 40110 citations.

A hospital based preliminary report on sleep disordered breathing in pakistani population

Abstract: Background: Sleep Disordered Breathing is an important medical condition leading to significant morbidity and mortality. Western studies have shown its prevalence in middle age to be 9% in women and 24% in men. The aim of this study was to have a preliminary assessment on the frequency of Sleep Disordered Breathing in Pakistani subjects. Method: Patients attending a medical clinic were surveyed. A sleep questionnaire elicited information about snoring, witnessed apnoea, nocturnal choking and excessive daytime sleepiness. Data were recorded for age, height, collar size and weight. Epworth Sleepiness Scale was used to assess excessive daytime sleepiness. Statistical analysis was by chi square test, t-test and Fisher’s exact test. A p -value less than 0.05 was considered significant. Results: A total of 123 subjects (M:F= 2:1) were included in the study. The frequency of snoring was found to be 46%. Snoring with apnoea was reported in 7% and snoring with apnoea and excessive daytime sleepiness in 3%. Snorers were more obese ( p <0.001), older ( p <0.003), with higher body mass index ( p < 0.001) and larger collar size ( p <0.006) than non-snorers. Hypertension was more common in patients with sleep disordered breathing (35%) as compared to those without (16%). Conclusions: This is the first preliminary data on sleep disordered breathing from Pakistan that reflects that the prevalence is similar to that seen in the West. The risk factors and association with hypertension are also comparable. Key Words: sleep disordered breathing; obstructive sleep apnoea; snoring; prevalence; Pakistan

Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Abstract: Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants. We systemically reviewed clinical and molecular data from this cohort and 11 cases previously reported. Phenotypes were standardized using Human Phenotype Ontology terms. A cross-sectional analysis revealed global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea as core manifestations. A review of brain magnetic resonance imaging scans demonstrated a thin corpus callosum in 52%. We evaluated 17 distinct variants. Missense variants in TECPR2 are predominantly located in the N- and C-terminal regions containing β-propeller repeats. Despite constituting nearly half of disease-associated TECPR2 variants, classifying missense variants as (likely) pathogenic according to ACMG criteria remains challenging. We estimate a pathogenic variant carrier frequency of 1/1221 in the general and 1/155 in the Jewish Ashkenazi populations. Based on clinical, neuroimaging, and genetic data, we provide recommendations for variant reporting, clinical assessment, and surveillance/treatment of individuals with TECPR2-associated disorder. This sets the stage for future prospective natural history studies.

Microsurgical excisions of vestibular schwannomas: A tumor-size-based analysis of neurological outcomes and surgical complications.

Abstract: Developments in the field of microneurosurgery coupled with adjunctive technologies have altered therapeutic goals in vestibular schwannoma surgery. From the mortality rates of 40%, 100 years ago, the current published mortality rate stands at less than 1%.[28,29] The preservation of useful hearing has superseded facial nerve preservation in recent times. Although complications associated with surgery are widely reported, the rate of complication tends to vary widely. The low published complication rates as that reported by Samii and Matthias in the Hannover series are the norm in well-equipped and highly trained facilities in the West.[29] However, in South Asia the complication rates do not always parallel that of the West. In developing nations technologies such as latest imaging or neuromonitoring, facilities may not always be present. In the article “Microsurgical excisions of vestibular schwannomas: a tumor size-based analysis of neurologic outcomes and surgical complications,” the authors present a retrospective review of the experience in the Aga Khan University in Karachi, Pakistan, over a 20-year period. The authors have collected data in a retrospective manner to elucidate if the size of the vestibular schwannoma has a bearing on the postoperative complication rates. Case records of a total of 71 patients were reviewed and they were divided into 2 groups according to tumor size. The analysis noted that large tumors (>4 cm in size) were associated with significantly higher rates of complications, such as severe facial nerve palsy, cerebrospinal fluid leaks, and lower cranial nerve lesions. There are a number of issues to be noted: The data collected for this article represents a heterogenous group of patients who were operated on by seven different neurosurgerons in the above-stated duration. The level of experience and prior number of cases that were operated on by each of these surgeons were not described. Audits have proven that improvement in outcomes of Vestibular Schwannoma surgery occur mainly between the 40th and the 100th operated cases. This difference could contribute to variations in complication rates due to difference in the surgical learning curves.[30] Radiologic studies that were utilized being either magnetic resonance imaging or computed tomography scan were done in only 58 patients. No description was given on how the tumor size was evaluated in patients without imaging. Furthermore, the measurement of tumor size itself was also questionable as the maximum size measured in any one of the planes was taken to represent to size of the tumor. The variation of size in each plane may have different contribution to surgical complications, and thus needs to be considered separately. From the surgical standpoint, the authors have described in general the approaches that were used for tumor excision. Further description of the microsurgical process may have yielded some simple but significant variations that may contribute to the differences in outcome. Over the 20-year period in which the patients described in this article presented, there have been developments in surgical techniques as well as the use of adjuncts, such as neuromodality monitoring. Outcomes in preservation of facial nerve function and hearing specifically have benefitted most from the use of these.[31] In the authors’ center, baseline investigations such as audiometry and facial nerve monitoring were only done in a small number of patients. This review can be considered as an acceptable preliminary report describing the outcomes of vestibular schwannoma surgery in the authors′ center. However, the heterogenecity of the sample is such that no confirmative conclusions can be made with regard to the outcome predictors described in the series. The shortcomings of this series reflect common problems seen in many developing nations, especially in South Asia and South East Asia. The authors′ outcomes were nearly similar to our series of cases with the same pathology seven years ago with approximately similar outcomes. Thus far with the presence of intraoperative brain stem, Somatosensory Evoked Potential, Electromyographic facial nerve monitoring, image-guided surgery, and endoscopes, our morbidity for small- to moderate-sized lesions has decreased tremendously. The availability of stereotactic radiosurgery has given the opportunity for our neurosurgeons to be able to improve functional outcome in moderate and a small number of larger tumors after surgery in our institution. The technique of surgery, the knowledge of anatomy, and good neurosurgical skills are needed to achieve good results reported in the literature.[30–32]

Case report: acute management of external laryngeal trauma.

Abstract: External laryngeal trauma is rare, accounting for less than 1% of all trauma cases seen at major centers. We report the case of a man who experienced multiple injuries, including an external laryngeal trauma. The primary signs and symptoms of his laryngeal trauma were hoarseness, hemoptysis, the loss of his laryngeal prominence (Adam's apple), neck tenderness, traumatic emphysema in the neck, and a small penetrating wound to the right of the laryngeal prominence. The patient underwent immediate tracheostomy and surgical exploration. On long-term followup, his voice quality and airway patency improved. This case illustrates the importance of rapid identification and early management of laryngotracheal trauma in a patient with multiple injuries.

Liver biopsy for histological assessment: The case in favor.

Abstract: Liver biopsy (LB) is the gold standard method for assessment of liver histology It provides valuable, otherwise unobtainable information, regarding the degree of fibrosis, parenchymal integrity, degree and pattern of inflammation, bile duct status and deposition of materials and minerals in the liver This information provides immense help in the diagnosis and prognostication of a variety of liver diseases With careful selection of patients, and performance of the procedure appropriately, the complications become exceptionally rare in current clinical practice Furthermore, the limitations of sampling error and inter-/intra-observer variability may be avoided by obtaining adequate tissue specimen and having it reviewed by an experienced liver pathologist Current noninvasive tools are unqualified to replace LB in clinical practice in the face of specific limitations for each tool, compounded by a poorer performance towards the assessment of the degree of liver fibrosis, particularly for intermediate stages