29 research outputs found
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
Global variations in diabetes mellitus based on fasting glucose and haemogloblin A1c
Fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) are both used to diagnose
diabetes, but may identify different people as having diabetes. We used data from 117
population-based studies and quantified, in different world regions, the prevalence of
diagnosed diabetes, and whether those who were previously undiagnosed and detected
as having diabetes in survey screening had elevated FPG, HbA1c, or both. We developed
prediction equations for estimating the probability that a person without previously
diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa.
The age-standardised proportion of diabetes that was previously undiagnosed, and
detected in survey screening, ranged from 30% in the high-income western region to 66%
in south Asia. Among those with screen-detected diabetes with either test, the agestandardised
proportion who had elevated levels of both FPG and HbA1c was 29-39%
across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and
middle-income regions, isolated elevated HbA1c more common than isolated elevated
FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and
underestimate diabetes prevalence. Our prediction equations help allocate finite
resources for measuring HbA1c to reduce the global gap in diabetes diagnosis and
surveillance.peer-reviewe
In Response to "Polypoid Change of the Middle Turbinate and Paranasal Sinus Polyposis Are Distinct Entities"
Polypoid change of the middle turbinate and paranasal sinus polyposis are distinct entities
Objectives: Polypoid change of the middle turbinate (PCMT) is a finding on intranasal examination whose significance is not well understood. We present a comparison of the clinical characteristics of PCMT with paranasal sinus polyposis (PSP), a common condition with potentially similar appearance. Study Design: Parallel case series. Setting: Tertiary rhinology clinic. Subjects and Methods: Data were prospectively compiled from consecutive patients during a 12-month period with either PSP arising from the middle meatus or PCMT limited to the middle turbinate as identified on nasal endoscopy. Recorded data included comorbidities, the 22-item Sinonasal Outcome Test (SNOT-22), Nasal Obstruction Symptom Evaluation (NOSE), Lund-Mackay score from computed tomography (CT) imaging, and total eosinophil levels. Results: Of 593 patients, 23 (3.9%) had PCMT and 44 (7.4%) had PSP. The PSP group was predominantly male (75% vs 52%,
SMARCB1-deficient sinonasal carcinoma: systematic review and case report
Introduction: To describe the current state of literature involving SMARCB1/INI-1 deficient sinonasal carcinoma (SDSC) and examine a case at our institution. Methods: A systematic search was performed using the Population, Intervention, Comparator, Outcome, and Study Design approach. Search criteria included all occurrences in the title or abstract of the terms: âintegrase interactor 1 deficient,â âINI1 deficient,â or âSMARCB1 deficientâ and âsinonasal carcinoma.â The main outcomes were disease-free survival, all-cause mortality, rates of recurrence, or metastases. Results: Systematic search yielded 13 studies for final review. All studies were either case series or case reports with 82 cases of SDSC published since 2014. Age on presentation ranged from 19 to 75 years, with the majority of patients being male. Surgical resection was the primary modality of treatment with adjuvant radiation or chemoradiation therapy. Overall, the prognosis was poor, with most tumors presenting at advanced stages with an overall median (range) survival of 22 (12â44) months with an average (standard deviation) of 45.3% (33.1%) of patients dying of the disease. An average (standard deviation) of 38.2% (34.0%) of patients had no evidence of disease at follow-up. Studies comparing sinonasal undifferentiated carcinoma to SDSC reported worse prognosis for SDSC and increased risk for locoregional recurrence in the latter cohort. Conclusions: SDSC represents a highly aggressive tumor presenting at advanced stage with propensity of metastasis. More research is necessary to determine the optimal treatment modality and management
SMARCB1-Deficient Sinonasal Carcinoma: Systematic Review and Case Report.
INTRODUCTION: To describe the current state of literature involving SMARCB1/INI-1 deficient sinonasal carcinoma (SDSC) and examine a case at our institution.
METHODS: A systematic search was performed using the Population, Intervention, Comparator, Outcome, and Study Design approach. Search criteria included all occurrences in the title or abstract of the terms: integrase interactor 1 deficient, INI1 deficient, or SMARCB1 deficient and sinonasal carcinoma. The main outcomes were disease-free survival, all-cause mortality, rates of recurrence, or metastases.
RESULTS: Systematic search yielded 13 studies for final review. All studies were either case series or case reports with 82 cases of SDSC published since 2014. Age on presentation ranged from 19 to 75 years, with the majority of patients being male. Surgical resection was the primary modality of treatment with adjuvant radiation or chemoradiation therapy. Overall, the prognosis was poor, with most tumors presenting at advanced stages with an overall median (range) survival of 22 (12-44) months with an average (standard deviation) of 45.3% (33.1%) of patients dying of the disease. An average (standard deviation) of 38.2% (34.0%) of patients had no evidence of disease at follow-up. Studies comparing sinonasal undifferentiated carcinoma to SDSC reported worse prognosis for SDSC and increased risk for locoregional recurrence in the latter cohort.
CONCLUSIONS: SDSC represents a highly aggressive tumor presenting at advanced stage with propensity of metastasis. More research is necessary to determine the optimal treatment modality and management
In Response to âPolypoid Change of the Middle Turbinate and Paranasal Sinus Polyposis Are Distinct Entitiesâ
National hepatitis registry in Pakistan: a dire need for hepatitis surveillance and control
Abstract Hepatitis is a major public health issue in Pakistan, with an estimated 11.55% prevalence of HCV infection in the adult population. The country ranks second globally in terms of hepatitis C virus (HCV) infections, with approximately one in every 20 Pakistanis already infected. The mortality rates due to HBV and HCV stand at 563,000 and 366,000 annually, respectively. However, the absence of a national registry or database system and the lack of coordination among provinces pose significant obstacles in combating this disease effectively. To address this issue, the establishment of a centralized national database registry is crucial, allowing comprehensive analysis, tracking of hepatitis prevalence, and identification of high-risk areas for targeted interventions. By fostering collaboration among provinces, the government, and non-governmental organizations, the registry would facilitate joint decision-making, minimize duplication of efforts, and address inconsistencies in diagnosis and treatment. Collaborating with student-run organizations and leveraging enhanced laboratory capacities post-COVID era can strengthen the hepatitis control program. The centralized approach and unified efforts are necessary to achieve the goal of a hepatitis-free Pakistan, where a healthier future can be realized
Coexistence of ipsilateral acuteâonâchronic subdural hematoma and acute extradural hematoma: A case report
Abstract Chronic subdural hematomas are typically observed in elderly patients receiving antithrombotic and/or anticoagulant therapy. In contrast, acute subdural and extradural hematomas are often observed in young people with traumatic brain injury. The coexistence of ipsilateral chronic subdural and extradural hematomas is rare. Depending on the Glasgow Coma Scale and neuroimaging findings, early surgical intervention is mandatory, as seen in our patient. Early surgical evacuation of a traumatic extradural and chronic subdural hematoma should be done. Also, antithrombotic drug use can lead to chronic subdural hematoma