Journal of Ayub Medical College, Abbottabad : JAMC最新文献

Abstract: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found in the membrane of the endoplasmic reticulum. Although Wolfram Syndrome is generally considered an autosomal recessive disorder, a milder non-classic autosomal dominant form has been reported in association with a single pathogenic or likely pathogenic variant in WFS-1 gene. Objective was to date more than 200 variants have been identified in the WFS-1 gene. This case report aims to highlight and explain a novel de-novo likely pathogenic variant of the WFS-1 gene in a Pakistani child, which is highly plausible to induce non-classic WFS-1 spectrum disorder (MedGen UID: 481988).

Case discussion: Our patient, a seven-year-old boy, initially sought medical attention at our endocrine clinic for diabetic control. Besides diabetes, other notable features included short stature, sensorineural deafness and a history of bilateral cataracts. Family history was significant for parental consanguinity. A clinical diagnosis of Wolfram Syndrome was suspected and a multi gene panel test which included the WFS-1 gene was ordered. Initial report noted a variant of uncertain significance in the WFS-1 gene at c.2586G>T (p.Lys862Asn), which was later reclassified as a likely pathogenic variant by the laboratory based on the patient's clinical presentation.

Conclusions: Access to genetic testing is not readily available in Pakistan and our population is under studied and these complex diagnoses are often missed. In this study, we present a novel de novo likely pathogenic variant in the WFS-1 gene that causes non-classic WFS-1 spectrum disorder in a child from our population.

This case report presents the case of a 27-year-old female patient with a complex clinical presentation, diagnosed with nonclassical congenital adrenal hyperplasia (NCCAH). The patient presented with a constellation of symptoms including hirsutism, acne, hyperpigmentation, amenorrhea, frontal baldness, and renal stones, posing diagnostic challenges. Comprehensive evaluation revealed NCCAH, emphasizing the importance of considering this condition in cases of hyperandrogenism. Treatment with oral dexamethasone and oral contraceptive pills resulted in gradual symptom improvement. This case underscores the necessity for thorough clinical assessment and awareness of NCCAH as a differential diagnosis in patients with hyperandrogenic symptoms.

Background: Endoscopic Endonasal Trans-Sphenoidal Approach has been employed for skull base tumours especially macro-adenomas, for the last decade in our setup. Here we are sharing our experience with the EETA for patients with micro-adenomas in terms of extent of tumour resection and its recurrence. The objective was to assess endoscopic endonasal trans-sphenoidal surgery in patients with macro-adenoma for extent of surgical resection and recurrence rate.

Methods: This descriptive case series study was carried out from May 2021 till April 2023. Male and female patients with macroadenoma were enrolled which was diagnosed with contrast enhanced volumetric MRI brain. EETA and resection was performed. Extent of resection recurrence was confirmed on post-op MRI and follow up at 6 months respectively.

Results: A total of 58 patients were enrolled. Mean age of the patients was 47.51±7.93 years and male to female ratio was 1.3: 1. 42 (72.4%) tumours were non-functional. Somatotropin releasing tumour was the most common functional tumour (n=09, 15.5%). Total resection was performed in 49 (84.4%) patients. Recurrence was observed in 9 (15.6%) cases.

Conclusions: EETA has been shown to be a safe and effective technique for the resection of macroadenoma of the skull base.

Background: Acute alcohol poisoning, particularly from methanol ingestion, remains a critical public health issue worldwide. In regions where illicit alcohol production thrives, methanol poisoning cases are prevalent, posing severe risks of mortality and long-term morbidity. Aim and objective was to analyze the forensic profiles of deaths due to acute methanol poisoning in Hyderabad, identifying the main causes and contributing factors to fatalities associated with methanol intoxication.

Methods: This retrospective descriptive cross-sectional study reviewed 198 autopsy records from a hospital in Hyderabad, focusing on cases identified as methanol intoxication deaths. The study analyzed demographic data, autopsy findings, and toxicological reports.

Results: A total of 198 fatalities were recorded, with a significant male predominance (91.9%). The age range of the deceased was 21-58 years, with a notable concentration in the 31-40 years age group. High blood methanol concentrations were observed with many cases exceeding the lethal threshold. Autopsy findings highlighted the severe impacts of methanol on the brain, heart, and lungs.

Conclusions: The study underscores the grave impact of methanol poisoning in the Hyderabad region, with a high rate of fatalities, particularly among young to middle-aged men. It calls for stricter regulation of alcohol production, increased public awareness, and improved medical recognition and treatment of methanol poisoning.

Background: foetal movements are one straightforward indicator of foetal health. The evidence, however, is still insufficient to warrant the inclusion of reduced foetal movements in national recommendations as part of a more comprehensive evaluation. The study objective was to determine perinatal outcome in women presenting with reduced foetal movement at term gestation.

Methods: A prospective, observational study was conducted in Hamdard University Hospital Karachi during January 2021 to June 2021, 216 pregnant women with reduced foetal movement at term were recruited from outpatient clinics, wards and labour room triage. Data was collected regarding demographic and clinical features of mothers. Neonatal outcomes were also investigated.

Results: Findings of the study revealed that 60.6% women had one episode and 39.4% women had two episodes of reduced foetal movements. 1/4th of the neonates were low birth weight, 1/5th of the babies had Apgar score less than 7 in five minutes, 9.3% neonates had cord around the neck and 1/3rd of the neonates were admitted to the NICU. Chi square test of association revealed that maternal factors such as maternal age, BMI, gravidity were significantly associated with reduced foetal movements. foetal outcomes such as NICU admission and presence of meconium were significantly associated.

Conclusions: The present study analyzed that Episodes of RFM were significantly associated with age, BMI, gravidity of mother. RFM episodes was associated with increased risk of cord around neck among neonates of mother with repeated RFM episodes whereas NICU likelihood was higher among neonates of mother with single RFM episode.

Background: Heat shock protein-27 is the microprotein released from renal parenchyma during diabetic oxidative stress, while microalbumin is the plasma protein that appears in urine in diabetic nephropathy.

Methods: This case-control study was conducted from Jan to Sep 2021 in the Physiology department, BMC, BMCH, Quetta. The current study included 105 patients with an age range from 30-50 years and was divided into three groups: i) a control group of healthy participants, ii) a diabetic risk group: participants without signs of diabetic nephropathy and diabetic duration from 1-5 years, iii) diabetic nephropathy group: participants having >30 mg/dl of v microalbumin in urine and diabetic duration from 5-10 years.

Results: There were significant mean differences between all groups concerning anthropometric measurements except in height amongst all groups. Statistically significant mean differences were seen in the risk and nephropathy group concerning serum FBG, RBG, and HbA1c. Elevated microalbumin levels in the diabetic nephropathy group (50.9±8.2) compared with the diabetic risk group (15.4±2.9). Similarly, higher levels of HSP-27 were seen in the diabetic nephropathy group (230.46±23.75) as compared with the diabetic risk group (117.60±14.50).

Conclusions: HSP-27 is a better biomarker than microalbumin and may show early glomerular injury in the early diabetic stage of diabetic nephropathy.

Background: Significant morbidity can arise from acute bacterial cholangitis. Key to improving outcomes is the implementation of aggressive antibiotic therapy and prompt biliary decompression through either endoscopic or percutaneous means. However, the challenge in treating these infections is amplified by the evolving patterns of antimicrobial resistance, particularly when determining the appropriate empiric therapy.

Methods: The present study was conducted at Shifa International Hospital in Islamabad. The patients with the diagnosis of Acute bacterial cholangitis between July 2016 and June 2022 were included. Data was analyzed using SPSS-26.0 to identify any significant associations or correlations among the study variables.

Results: A total of 144 patients with a diagnosis of acute bacterial cholangitis were included in the study. 51 of these patients had a positive blood culture. The most commonly identified organism was E. coli, followed by Klebsiella pneumonia, Pseudomonas aeruginosa, Proteus, Enterococcus spp and others. Antibiotic sensitivity pattern revealed resistance to Ceftazidime in 87%, Piperacillin-Tazobactam in 63.7%, Ertapenem in 34.4%, Meropenem in 26.1%, Imipenem in 25.0% and Colistin in 16.1%.

Conclusions: A high resistance pattern for antibiotics was observed in our study. This might, in turn, represent the prior judicious use of antibiotics in our community hospitals before these patients are referred to a tertiary referral center.

Background: Olokizumab (OKZ) is a monoclonal antibody against the interleukin receptor-6 that has shown promise in recent phase II and III trials in patients of rheumatoid arthritis (RA). This meta-analysis aims to evaluate the efficacy and safety of Olokizumab in managing rheumatoid arthritis.

Methods: We searched different databases until March 2023 for randomized controlled trials inspecting the effects of OKZ on various outcomes in RA patients inadequately controlled with anti-TNF or methotrexate. Data were analyzed via Review Manager-v 5.4.1. Relative risks (RR) with 95% confidence intervals were calculated.

Results: We evaluated five trials with 2761 patients under four treatment groups: 60mg OKZ administered 2-weekly, 64mg 2-weekly, 64mg 4-weekly, and 120mg 2-weekly. Clinical response as measured by ACR 20, 50, and 70 showed statistically significant improvement with the use of OKZ. A 50% disease improvement was seen across all 4 treatment groups (OKZ 64 mg q2w: RR= 2.96, p<0.0001, OKZ 64mg q4w: RR= 3.06, p=0.0002, OKZ 60 mg q2w: RR=5.06, p=0.007, and OKZ 120mg q2w: RR= 3.63, p=0.04). Moreover, 20% and 70% improvements were also noted with OKZ in doses 64mg 2-weekly and 4-weekly. Disease remission, as indicated by DAS28 <2.6 was also significantly higher than placebo across all groups. Safety data showed comparable mortality rates in treatment and placebo groups (OKZ 64mg q2w: p=0.48, OKZ 64 mg q4w: p=0.93).

Conclusions: In conclusion, Olokizumab has shown significant improvement in disease activity compared to placebo with a favourable safety profile. However, further larger and longer-term studies are required to confirm these findings.

Background: Uncontrolled cell development in the colon, rectum, or appendix is the cause of colorectal cancer, sometimes referred to as colon cancer, rectal cancer, or bowel cancer. Its incidence is higher in developed countries than in developing ones. About 75-95% of cases occur in individuals without significant genetic risk. The aim of Enhanced Recovery After Surgery (ERAS) or fast-track surgery involves the use of several perioperative strategies to facilitate better surgical conditions to achieve faster recovery of the patients which has shown better outcomes in different surgery types. This study aims to compare the outcome of ERAS vs conventional care in elective colorectal surgery.

Methods: In this randomized controlled trial, 60 patients undergoing elective colorectal surgery were assessed by dividing them into two groups. Group A patients followed ERAS protocols, while Group B patients followed conventional care techniques. Time for bowel sounds and first flatus were noted. Mean hospital stay was recorded for each patient from operation to discharge. Patients were followed for 4 weeks for surgical site infection assessment.

Results: The mean time to return bowel sounds in Group A was 20.63±2.66 hours while in Group B was 27.0±2.07 hours (p-value =0.0001). The mean time to passage of the first flatus in Group A was 18.67±2.38 hours while in Group B was 25.93±2.88 hours (p-value =0.0001). The mean hospital stay in Group A was 3.37±1.75 days while in Group B was 8.30±1.68 days (p-value =0.0001). Surgical site infection was found in 04 (13.33%) patients in group A while in group B, it was found in 09 (30.0%) patients with a p-value of 0.1172.

Conclusions: This study concludes that the outcome of enhanced recovery after surgery (ERAS) is better than conventional care in elective colorectal surgery.

Background: Ureterorenoscopy (URS) in treating ureteral stones in children is preferred for >10 mm-sized stones. Pneumatic lithotripsy is often used, but laser lithotripsy is gaining more popularity over the years, as it is considered better in terms of safety and efficacy. However, no previous meta-analysis has discussed the comparison of these two modalities. This meta-analysis compared pneumatic and laser lithotripsy in children with ureteral stones.

Methods: This meta-analytic study followed the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) guidelines. Inclusion studies were retrieved by thoroughly searching Pubmed, Scopus, ScienceDirect, Web of Science, and Embase databases, focusing on the comparative intervention of pneumatic and laser lithotripsy in the paediatric population.

Results: Study analysis showed that laser lithotripsy had a significantly higher stone-free rate (OR: 2.06; 95% CI: 1.06 - 4.00; p=0.03) and lower stone retropulsion (OR: 0.37; 95% CI: 0.16-0.87; p=0.02) compared to pneumatic lithotripsy. However, mean operative time (MD: 2.33; 95% CI: -4.09-8.74; p=0.48), length of stay (MD: -0.17; 95% CI: -0.36-0.02; p=0.08), post-operative fever (OR: 1.50; 95% CI: 0.48-4.66; p=0.48), and ureteral injury (OR: 0.43; 95% CI: 0.08-2.48; p=0.35) was not different between the two groups.

Conclusions: A higher stone-free rate (SFR) and a lower incidence of stone retropulsion can be achieved using laser lithotripsy instead of pneumatic lithotripsy for treating ureteral stones in children.