A rare beta chain variant hemoglobin Deer Lodge; a chance discovery in an Indian family while testing HbA1c by high-performance liquid chromatography

This case report documents the first reported instance of hemoglobin (Hb) Deer Lodge in an Indian family, discovered during routine HbA1c testing using high-performance liquid chromatography (HPLC). A 34-year-old clinically asymptomatic male (proband) showed an unexpected peak on HPLC, indicative of a Hb variant. Subsequent family screening revealed the same variant in the proband's mother. Multiple analytical platforms (HPLC and capillary electrophoresis) identified a Hb variant with migration patterns inconsistent with common variants. Genetic sequencing confirmed the HBB:c.8A>G mutation in the β-globin gene, corresponding to Hb Deer Lodge, a rare variant previously reported in non-Indian populations. Additional single nucleotide variants (SNVs), including HBB:c.9T>C, were identified in the family, with some showing high prevalence in the eastern Indian population. Functional analysis suggests that Hb Deer Lodge slightly alters oxygen affinity but remains clinically silent. This report emphasizes the importance of comprehensive analysis for Hb variants detected during routine screening, especially in regions with high genetic diversity. Furthermore, it highlights the potential for rare variants to complicate HbA1c measurements, necessitating confirmatory testing and cautious interpretation in clinical practice

Study of serum ferritin in type 2 DM patients in north Gujarat

Diabetes mellitus is a metabolic disorder in which metabolism of various trace elements is being altered. Present study has been carried out to determine association between serum ferritin and type 2 diabetes mellitus. To analyze level of serum ferritin in type 2 diabetes mellitus patients in comparison with healthy controls. The present cross-sectional study was carried at Clinical Chemistry Laboratory, department of Biochemistry, GMERS Medical College and Hospital, Vadnagar, Gujarat. There were 100 cases having minimum 5 years history of type 2 diabetes mellitus residing at North Gujarat. There were 100 healthy controls in this study. GOD-POD (Glucose Oxidase- Peroxidase) method was used for estimation of Glucose.Nephelometry method was used for estimation of Ferritin and HbA1c. In comparison to healthy controls; Serum ferritin level was found high in Type 2 DM patients. High level of serum ferritin was found in patients of type 2 diabetes mellitus patients who have poor glycemic control.</jats:p

BACTERIOLOGICAL PROFILE OF PYOGENIC MENINGITIS IN TERTIARY CARE HOSPITAL, AHMEDABAD

Aims: Bacterial meningitis remains a major cause of mortality and long term neurological sequelae worldwide. The purpose of present study was to identify the pathogen in pyogenic meningitis and to determine its antibiotic susceptibility pattern. Material and Methods: Present study was undertaken from July 2010 to December 2011 included 1470 CSF samples of clinically suspected pyogenic meningitis cases in all age groups. The samples were subjected to macroscopic examination, microscopic examination, Gram’s stain and culture tests. The organisms isolated in the study were characterized by standard procedure and antibiotic susceptibility tests according to CLSI guidelines. Results: Bacterial pathogens were isolated from 205 samples showing an isolation rate of 13.94%. Gram’s stain positivity was 61.95%. Among the isolated organisms, 69.26% were gram negative bacilli and 30.74% were gram positive cocci. The most commonly isolated bacteria were K. pneumoniae (22.92%) & S. aureus in 19.02%. Pyogenic meningitis was more common in paediatric patients than adults. K. pneumoniae and Enterococci spp. were most common isolated in neonatal age group. Most common organisms isolated in neurosurgical patients were Pseudomonas aeruginosa and Staphylococci aureus. 09.10% gram negative organisms were ESBLs. Only 2 Gram positive isolates were MRSA. Conclusion: The frequency of single as well as multiple drug resistance was very high among the bacterial isolates. Antibiogram study indicated that the third generation cephalosporins and aminoglycosides can be used as single or in combinations for the empirical treatment of bacterial meningitis till culture and sensitivity report is awaited

Pharmacokinetic evaluation of differential drug release formulations of rabeprazole in dogs

Objectives: To develop novel dual release prototype capsule formulations of rabeprazole and evaluation of pharmacokinetic properties relative to the reference product (Aciphex®) in Beagle dogs. Methods: The dual release prototype formulations of rabeprazole were developed by preparing optimized mini-tablets core which was subsequently coated with barrier/enteric coating using standard excipients. Both novel prototype formulations were subjected for in vitro release and assay by HPLC-UV to assess long term stability. Single dose pharmacokinetic study used a single sequence three treatments crossover design. In Periods 1 and 2, four dogs received oral 20 mg dose of two prototype formulations. In Period 3, all dogs received a 20 mg oral dose of Aciphex® reference product. There was a 1-week washout time between two successive periods. A quantitative analysis of rabeprazole/sulfide metabolite in plasma samples was performed using a validated LC-MS/MS assay and PK parameters were estimated by non-compartmental analysis. Results: The stability of the prototype formulations was confirmed over a period of 24 months with an acceptable assay and dissolution data. One of the novel prototype formulations showed 70% oral bioavailability relative to the reference product. Despite a 30% reduced bioavailability, this showed 1 h delay in peak concentration, longer plasma residence time of rabeprazole (up to 12 h) and longer apparent elimination half-life. Conclusions: The use of a canine model has enabled the selection of a novel dual-release prototype formulation of rabeprazole for further clinical development.</p

Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study

Background: Surgery is the main modality of cure for solid cancers and was prioritised to continue during COVID-19 outbreaks. This study aimed to identify immediate areas for system strengthening by comparing the delivery of elective cancer surgery during the COVID-19 pandemic in periods of lockdown versus light restriction. Methods: This international, prospective, cohort study enrolled 20 006 adult (≥18 years) patients from 466 hospitals in 61 countries with 15 cancer types, who had a decision for curative surgery during the COVID-19 pandemic and were followed up until the point of surgery or cessation of follow-up (Aug 31, 2020). Average national Oxford COVID-19 Stringency Index scores were calculated to define the government response to COVID-19 for each patient for the period they awaited surgery, and classified into light restrictions (index &lt;20), moderate lockdowns (20–60), and full lockdowns (&gt;60). The primary outcome was the non-operation rate (defined as the proportion of patients who did not undergo planned surgery). Cox proportional-hazards regression models were used to explore the associations between lockdowns and non-operation. Intervals from diagnosis to surgery were compared across COVID-19 government response index groups. This study was registered at ClinicalTrials.gov, NCT04384926. Findings: Of eligible patients awaiting surgery, 2003 (10·0%) of 20 006 did not receive surgery after a median follow-up of 23 weeks (IQR 16–30), all of whom had a COVID-19-related reason given for non-operation. Light restrictions were associated with a 0·6% non-operation rate (26 of 4521), moderate lockdowns with a 5·5% rate (201 of 3646; adjusted hazard ratio [HR] 0·81, 95% CI 0·77–0·84; p&lt;0·0001), and full lockdowns with a 15·0% rate (1775 of 11 827; HR 0·51, 0·50–0·53; p&lt;0·0001). In sensitivity analyses, including adjustment for SARS-CoV-2 case notification rates, moderate lockdowns (HR 0·84, 95% CI 0·80–0·88; p&lt;0·001), and full lockdowns (0·57, 0·54–0·60; p&lt;0·001), remained independently associated with non-operation. Surgery beyond 12 weeks from diagnosis in patients without neoadjuvant therapy increased during lockdowns (374 [9·1%] of 4521 in light restrictions, 317 [10·4%] of 3646 in moderate lockdowns, 2001 [23·8%] of 11 827 in full lockdowns), although there were no differences in resectability rates observed with longer delays. Interpretation: Cancer surgery systems worldwide were fragile to lockdowns, with one in seven patients who were in regions with full lockdowns not undergoing planned surgery and experiencing longer preoperative delays. Although short-term oncological outcomes were not compromised in those selected for surgery, delays and non-operations might lead to long-term reductions in survival. During current and future periods of societal restriction, the resilience of elective surgery systems requires strengthening, which might include protected elective surgical pathways and long-term investment in surge capacity for acute care during public health emergencies to protect elective staff and services. Funding: National Institute for Health Research Global Health Research Unit, Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, Medtronic, Sarcoma UK, The Urology Foundation, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research