Ziauddin Hospital

Background: Bowel rupture associated with pelvic fractures is a rare but life-threatening complication of high-energy trauma. Its diagnosis is often delayed due to nonspecific clinical presentation and competing injuries, resulting in increased morbidity and mortality. Objective: To systematically review the current evidence on epidemiology, diagnostic approaches, surgical management, and outcomes of bowel injury in patients with pelvic fractures. Methods: A systematic review was conducted in accordance with PRISMA 2020 guidelines. PubMed, Scopus, and Google Scholar were searched for studies published between 2004 and 2026. Eligible studies included adult patients with pelvic fractures and associated bowel injury, reporting diagnostic methods, surgical interventions, or outcomes. Study selection was performed independently by two reviewers. Methodological quality was assessed using the Newcastle-Ottawa Scale and AMSTAR-2 criteria. Due to heterogeneity, findings were synthesized narratively. Results: Thirty studies were included in the qualitative synthesis. Bowel injury was most commonly associated with high-energy blunt trauma, particularly road traffic accidents. Contrast-enhanced CT was identified as the primary diagnostic modality, although early injuries may be missed. Early exploratory laparotomy significantly reduced morbidity and mortality, while delayed diagnosis was associated with increased rates of sepsis and peritonitis. Damage control surgery was beneficial in hemodynamically unstable patients. Multidisciplinary trauma care and early pelvic stabilization improved overall outcomes. Reported mortality rates ranged from 20% to 50%, particularly in cases with delayed intervention. Conclusion: Early recognition, prompt surgical intervention, and coordinated multidisciplinary management are essential in improving outcomes in patients with bowel rupture associated with pelvic fractures. Advances in imaging and trauma protocols have improved survival; however, further research is needed to enhance early diagnostic accuracy and standardize management strategies.

Objective: To evaluate the diagnostic accuracy of 1.5 Tesla Magnetic Resonance Imaging (MRI) in assessing meso-rectal fascia (MRF) invasion in patients with anorectal carcinoma as compared to histopathology, serving as the gold slandered.Methods: This was a cross-sectional study at the Department of Radiology, Ziauddin University Hospital, Karachi, conducted between July 2019 and January 2020. One hundred and fifty-four (154) patients underwent preoperative MRI patients with suspected anorectal carcinoma. MRI was done in a 1.5T Siemens Magnetom Harmony with a dedicated pelvic coil and normal T1W, T2W and contrastenhanced sequences. The involvement of MRF was evaluated using the blinded senior radiologist, who was not aware of the histopathology outcomes, with histopathology being used as a reference standard. Diagnostic accuracy, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were determined.Results : The mean age of the study subjects was 47.4 + 7.05 years with 55.8% and 44.2% male and females respectively. In 95 (61.7%) cases, MRF was confirmed by histopathology. The MRI had an overall diagnostic accuracy of 44.2% (95% CI: 36.3–52.0%). The sensitivity was 26.3% (95% CI:17.5–35.2%), specificity was 72.9% (95% CI: 61.5–84.2%), PPV was 61.0% (95% CI: 46.0–75.9%), and NPV was 38.1% (95% CI: 29.1–47.0%).Conclusion: In this study, 1.5T MRI demonstrated suboptimal sensitivity and specificity for the preoperative assessment of MRF involvement in patients with anorectal carcinoma, resulting in limited overall diagnostic accuracy. This emphasizes that, while MRI provides valuable anatomical information and aids surgical planning, it cannot reliably replace histopathological evaluation for definitive staging. Factors such as MRI field strength, imaging protocol limitations, and the absence of adjunct sequences may have contributed to these findings. Consequently, careful interpretation of MRI results is essential, and correlation with histopathology remains crucial to ensure accurate staging, optimal surgical decision-making, and appropriate oncological management

ABSTRACTObjectives:To assess the clinical and functional outcome of Tibialis Anterior Tendon Transfer in Recurrent Relapsed Idiopathic Clubfoot Deformity associated with peroneal nerve dysfunction.Methodology:This observational study included 16 (2.11%) of 756 Idiopathic Clubfoot Deformity (CFD) patients with recurrent and relapse deformity following Ponseti management, treated during January 1, 2011 to December 31, 2023 at Ziauddin Hospital Clifton, Karachi, Pakistan. Included patients had evertors and toe extensors weakness associated with concomitant Peroneal Neuropathy. Following an initial Ponseti re-casting, Extended Posterior Release (EPR) and Tibialis Anterior Tendon Transfer (TATT) was performed. Clinical and functional outcomes were assessed on Nogueira and Songs satisfaction protocols.Results:All 16 patients had bilateral idiopathic Clubfoot deformity at initial treatment, who developed Iatrogenic Complex Clubfoot deformity with concomitant Peroneal nerve dysfunction, four of these had recurrent relapse on left side only. Their muscle charting revealed peroneal and toe extensor muscles weakness, while Tibialis Anterior strength was grade IV. Five patients had flexible deformity, while 11 patients had fixed severe deformities. Thirteen patients underwent EPR and TATT, while three had Posterio-Medial Release and TATT. At 3-10 years of follow-up, six patients improved from Nogueira Poor to good Nogueira outcome and Satisfied on Song’s Scale. While three patients achieved Nogueira’s “Poor” and “Very dissatisfied” on Song’s criteria.Conclusion:A small and rare sub-set of iatrogenic complex clubfoot deformity with peroneal nerve dysfunction, is undoubtedly difficult to treat. Early diagnosis and treatment prevents extensive surgical interventions, which is required mostly in late presenting, rigid deformities. The association between peroneal neuropathy and preserved tibialis anterior muscle strength in these patients remains poorly understood.

Significant developmental difficulties are frequently caused by neurodevelopmental diseases, which are frequently brought on by environmental causes and genetic mutations. The DEAF1 gene is associated with serious neurological disorders and is essential for brain development. The purpose of this study is to investigate the potential effects of a homozygous mutation in the DEAF1 gene on developmental delays, specifically in consanguineous families, using the example of a 1.5-year-old boy. A harmful mutation in the DEAF1 gene (c.1051C>T p.(Arg351Ter)) was discovered by genetic research. The child had generalized epileptic activity, optic atrophy, microcephaly, and global developmental delay. There was no discernible developmental improvement even after getting antiepileptic medication, occupational therapy, and physical therapy. Similar developmental difficulties were also shown by a first cousin, suggesting a close genetic connection. Genetic testing and thorough neurological examinations were among the evaluations. The difficulties in treating neurodevelopmental abnormalities linked to the DEAF1 gene are highlighted by this example. The particular mutation emphasizes how important it is for developmental outcomes. The results highlight the value of preventive testing and genetic counseling in consanguineous relationships. Because of the severity of the mutation, the prognosis is still unknown even after intensive multidisciplinary care. All things considered, this instance highlights the need for more research in this field and offers insightful information on how DEAF1 mutations affect neurodevelopmental diseases. • A 1.5-year-old boy presented with global developmental delay and a homozygous DEAF1 mutation. • The clinical presentation consisted of microcephaly, optic atrophy, hypotonia and generalized epileptic activity. • This hypothesis was confirmed by MRI which displayed hypoplastic corpus callosum. • One of her first cousins has similar neurodevelopmental delay, which makes hereditary correlation strong. • Case underlines the urgency of genetic counseling and preventive testing in consanguinity families at an early stage.

BackgroundHepatitis delta virus (HDV) is the most aggressive form of viral hepatitis, accelerating progression to cirrhosis, hepatocellular carcinoma, and liver failure. Despite its severity, HDV remains underdiagnosed and under-prioritized in Pakistan, where hepatitis B virus (HBV) prevalence is high. Understanding clinician perspectives is essential for informing national strategies related to diagnosis, treatment, and policy integration.MethodsA non-interventional, cross-sectional mixed-methods survey was conducted among 12 clinicians, including hepatologists, gastroenterologists, and infectious disease specialists from Karachi, Islamabad/Rawalpindi, Lahore, Peshawar, and Nowshera. Data were collected using a structured questionnaire adapted from international HDV surveys and contextualized for Pakistan. Quantitative data were analyzed descriptively, while qualitative responses underwent thematic analysis to identify barriers, gaps, and recommendations.ResultsTwelve clinicians from major urban centers in Pakistan participated, representing diverse specialties with 5-30+ years of experience. Fifty percent reported frequently encountering HDV among HBV patients, and most estimated HDV co-infection rates between 10% and 20%. Anti-HDV testing was routinely performed by 75% of clinicians, whereas HDV RNA PCR was routinely performed by only 50%, primarily due to high cost and limited availability; 83.3% reported that HDV diagnostics were available but unaffordable for most patients. Key diagnostic barriers included high cost (75%), lack of awareness (66.7%), limited test availability (41.7%), and absence of national screening guidelines (50%). Two-thirds classified HDV severity as moderate, while 33.4% rated it severe or life-threatening. Perceived clinical risks included rapid progression to cirrhosis (75%), liver failure (66.7%), hepatocellular carcinoma (66.7%), and increased mortality (33.3%). Most clinicians identified major treatment gaps, with 75-83.3% describing an urgent or critical need for a national HDV treatment program. Policy support was strong: 83.3% favored HDV inclusion in the National Hepatitis Program, 83.3% endorsed national screening guidelines and awareness campaigns, and all clinicians (100%) supported an Emergency Use Authorization pathway with safeguards such as Phase II/III data and advisory oversight. Qualitative insights reinforced concerns about worsening liver disease burden, inequitable access, and escalating healthcare costs without immediate policy action.ConclusionThis study reveals substantial diagnostic, therapeutic, and policy gaps in HDV management in Pakistan. Clinicians strongly advocate for nationwide screening, cost reduction of diagnostics, integration of HDV into the national hepatitis program, and early treatment access through regulatory innovation. Urgent action is needed to prevent worsening disease burden, improve equity, and align with global hepatitis elimination targets.

Background: Pathogenic variants in the BRCA1 and BRCA2 genes significantly elevate breast cancer risk, particularly among women with a positive family history. However, precise risk quantification for this specific, genetically predisposed subpopulation requires consolidation from the growing body of recent literature. Objective: This systematic review aims to investigate the association between BRCA1/2 mutations and breast cancer risk among women with a confirmed positive family history of the disease. Methods: A systematic review was conducted following PRISMA guidelines. Electronic databases (PubMed, Scopus, Web of Science, Cochrane Library) were searched for observational studies published between 2019-2024. Included studies reported breast cancer risk estimates for BRCA carriers versus non-carriers within cohorts of women with a family history. Study quality was assessed using the Newcastle-Ottawa Scale. Results: Eight studies (n=35,842 participants) were included. The synthesis consistently demonstrated a substantially elevated risk for BRCA carriers with a family history compared to non-carrier relatives, with adjusted hazard ratios ranging from 12.5 to 28.4. Cumulative risk estimates by age 70 were high, between 66% and 72%. The strength of the family history was identified as a key effect modifier, with stronger family aggregation associated with higher penetrance. Conclusion: The evidence confirms that BRCA1/2 mutations confer a profoundly high risk of breast cancer in women with a positive family history. These findings are critical for refining risk assessment, guiding genetic counseling, and personalizing clinical management strategies for this high-risk population. Future research should focus on standardizing family history reporting and integrating genetic modifiers into risk prediction models.

Hepatocellular carcinoma (HCC) is primarily a malignant liver tumour. In rare cases, HCC may be asymptomatic and incidentally identified in radiological exams. Although extrahepatic metastasis to organs such as the lungs or bones is not very uncommon, isolated extrahepatic lesions with hepatoid characteristics, in the absence of a primary tumour in the liver or gastrointestinal tract, are incredibly uncommon. Herein, we present an intriguing case of an isolated skull lesion with hepatoid features with no identifiable primary hepatic or gastrointestinal lesion. This case highlights the need for further research into these rare presentations to deepen our understanding of HCC pathogenesis and ectopic tissue transformation.

Background: Congenital hypothyroidism (CH) is one of the most common preventable endocrine disorders in neonates, associated with irreversible neurodevelopmental impairment if undiagnosed. While most affected infants are asymptomatic at birth, early biochemical screening enables timely treatment. Global prevalence is approximately 1 in 3,000–4,000 live births, but higher rates have been reported in South Asia, where systematic newborn screening remains limited. Objective: To determine the frequency of congenital hypothyroidism in term neonates at a tertiary care hospital in Islamabad and to characterize clinical and biochemical features of affected infants. Methods: This descriptive cross-sectional study was conducted at Dr. Akbar Niazi Teaching Hospital, Islamabad, between November 2024 and April 2025. A total of 125 term neonates were consecutively enrolled. Venous blood samples collected between days 5–7 of life were analyzed for thyroid-stimulating hormone (TSH) and total thyroxine (T4) using chemiluminescence immunoassay. Neonates with TSH >10 µU/mL underwent confirmatory testing. Data were analyzed using descriptive statistics, chi-square, t-tests, and odds ratios with 95% confidence intervals. Results: The mean gestational age was 38.7 ± 1.4 weeks, with 52.8% males. Initial screening identified 13 neonates (10.4%) with elevated TSH. After confirmatory testing, 7 neonates (5.6%) were diagnosed with CH, 4 (3.2%) with transient hypothyroidism, and 2 (1.6%) remained suspicious. Affected neonates had significantly higher TSH (22.9 ± 8.6 µU/mL) and lower T4 (4.1 ± 0.9 µg/dL) compared to normal infants (p<0.001). More than half of CH cases (57.1%) were asymptomatic. Conclusion: The prevalence of CH among term neonates in this setting exceeded global averages, with most cases clinically silent. These findings underscore the urgent need for nationwide newborn screening programs in Pakistan.

Current treatment options for hepatitis D are limited, with pegylated interferon-alpha (PEG-IFNα) being the only therapy available in the Asia-Pacific region. However, PEG-IFNα has limited efficacy and significant side effects. Pegylated interferon lambda acts on interferon-lambda (Type III) receptors predominantly expressed in hepatocytes. In 2023, bulevirtide was approved in the European Union and Russia for treating chronic hepatitis D. This drug works by binding to and inhibiting the sodium taurocholate co-transporting polypeptide receptor on liver cells, which is the primary entry point for the virus. Recently, several new drugs have entered various stages of development, offering hope for improved hepatitis D virus (HDV) management. Two more viral entry inhibitors are HH003 and tobevibart. Other agents include nucleic acid polymers (REP 2139-Mg), prenylation inhibitors (lonafarnib), and RNA interference-based therapies (elebsiran). Emerging trials are now considering combination therapies, such as SOLSTICE, a Phase 2 clinical trial evaluating tobevibart alone or combined with elebsiran. The combination dosed monthly achieved > 50% virologic and biochemical response at 24 weeks of therapy. The efficacy and safety of these drugs will further be evaluated in ECLIPSE 1, 2, and 3 trials. With these new treatments on the horizon, the prospects for improved HDV patient outcomes are promising.