Clinical presentation and genotype of hepatitis delta in Karachi

Aim: To assess the clinical presentation and genotypes of delta hepatitis in local population. Methods: In this prospective study, 39 consecutive patients who were positive for HBsAg and hepatitis D virus (HDV) antibody were included. The patients were divided in two groups on the basis of presence or absence of HDV RNA and a comparative study was done. Genotype of HDV was determined in PCR positive patients. Results:Overall there is male dominance, in which 34 patients out of 39 (87.2%) were male. Twenty (51%) patients were from the adjacent areas of three provinces; Sindh, Punjab and Balochistan indicating the higher prevalence of delta hepatitis in this mid region of Pakistan. Patients of all age groups were affected with delta hepatitis (median 31.5 years, range 12-75). HDV RNA was detectable in 23 patients (59%). All the HDV strains belonged to genotype I. HBV DNA was detectable only in 3 cases who were also HBeAg and HDV RNA positive. Patients with detectable HDV RNA were younger than patients with undetectable RNA; mean age 29.7 +/- 12.8 years vs 36.8 +/- 15.2. There were no statistically significant differences in the clinical presentation and routine biochemical profile of patients with detectable or undetectable HDV RNA. Clinical cirrhosis was present in 19 (49%) patients; 12 with detectable RNA and 7 with undetectable HDV RNA (P = 0.748). Decompensated disease was seen in eight patients; five and three respectively from each group. Four patients with undetectable RNA and two patients with detectable RNA had normal ALT and ultrasound abdomen. Conculsion: HDV may infect at any age, usually young adult males. Genotype I is prevalent. With time some of the patients become HDV RNA negative or asymptomatic carrier. Most of the patients have suppressed HBV DNA replication. Significant numbers of patients have cirrhosis

Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3

AIM: To investigate the association between cytokine gene polymorphism and disease status in chronic hepatitis C genotype 3 by liver biopsy, ALT, HCV RNA levels and response to treatment.Methods: Patients with chronic hepatitis C genotype 3 were analyzed for single nucleotide polymorphisms of interleukin (IL)-10, IL-1 beta, interferon-gamma (IFN-gamma), tumor necrosis factor-alpha (TNF-alpha) and transforming growth factor-beta (TGF-beta) by polymerase chain reaction using sequence-specific oligonucleotide primers. Liver biopsies were assessed by modified histological activity index (HAI) scoring system using a scale of 0-18 for grading the necro-inflammatory activity and 0-6 for staging the fibrosis. HCV RNA levels were determined by bDNA assay. The patients were treated with interferon alpha and ribavirin for 6 mo. Sustained virological response was assessed 6 mo after the completion of the treatment.Results: Out of the 40 patients analyzed, 26 were males. Mean age was 40.5+/-12.5 years (range 18-65 years). The frequencies of different dimorphic polymorphisms based on single nucleotide substitution were as follows: IL-10-1082 G/A 85%, A/A 12.5%, G/G 2.5%; IL-10-819 A/C 87.5%, C/C 10%, A/A 2.5%; IL-10-592 C/A 72.5%, C/C 27.5%; IL-1 C 90%, U 10%; IFN-874 T/A 50%, T/T 27.5%, A/A 22.5%; TNF-308 A/G 95%, G/G 5%; TGF-10 T/C 52.5%, C/C 35%, T/T 12.5%. The mean grades of necro-inflammatory activity of different genotypes of IL-10 at promoter site -1082 were A/A = 3.6, A/G = 5.0, and G/G = 10.0 and the difference was significant (P = 0.029). The difference in the stage of disease at a scale of 0-6 was A/A 0.8, A/G 2.3, and G/G 4.0 (P = 0.079). The difference in the HAI seemed to be related to the presence of allele -1082G. For IL-10 -819 genotypes, mean scores of fibrosis were A/A = 6.0, A/C = 2.2, and C/C = 1.0 (P = 0.020) though the inflammatory activity was not much different. No significant differences in HAI were noted among polymorphisms of other cytokines. Moreover, ALT and HCV RNA levels were not significantly different among different cytokine polymorphisms. There was a significant correlation of HAI and HCV RNA levels with the duration of disease. TGFbeta -10 genotype CC patients had a better end of treatment response than those with other genotypes (P = 0.020). Sustained virological response to the treatment was not influenced by the cytokine polymorphism. No effect of other factors like viral load, degree of fibrosis, gender, steatosis, was observed on sustained virological response in this population infected with genotype 3.CONCLUSION: There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphisms

Papillary craniopharyngioma: A clinicopathologic study of a rare entity from a major tertiary care center in Pakistan

Background: Papillary craniopharyngioma (PCP) are uncommon variants of craniopharyngiomas (CP), which are benign epithelial neoplasms of the sellar and suprasellar region. Histologically, PCPs are typically composed of well-differentiated stratified squamous epithelium; however, focal variations are not uncommon. A distinction from other lesions of the region, despite being difficult to achieve due to the overlapping radiological and clinical features, is important for adequate treatment to be administered.Objective: Our aim was to study the clinical and histological features of PCP with emphasis on features that are helpful in its distinction from other lesions that are similar in appearance.Materials and Methods: We reviewed 13 cases of PCP diagnosed in our institution between January 2010 and December 2015.Results: The mean age at presentation was 30.76 years. Two of the patients belonged to the pediatric age group. Male-to-female ratio was 2.25:1. Suprasellar location (either alone or in combination with sellar region) was the most common tumor site. Microscopically, all of the cases showed stratified squamous epithelium with frequent pseudopapillae formation. Focal adamantinomatous epithelium and columnar epithelium with variable cilia and goblet cells were seen in 4 (30.7%) cases. Brain invasion was observed in 3 (23%) cases. Four patients died of their disease; 2 of the 7 patients with an available follow up, developed recurrences; and, 5 experienced severe postoperative morbidity.Conclusion: Majority of the PCPs exhibited typical features with minor variations. Knowledge of the variations in histologic features helps in reaching the correct diagnosis. These tumors can behave aggressively with a high recurrence rate and decreased overall survival

Immunomodulatory Effects of Psyllium Extract on Helicobacter pylori Interaction With Gastric Epithelial Cells.

Natural plant product Psyllium has anti-inflammatory activity that can modulate the function of cytokines. We determined the effect of Psylliumhusk extract on interleukin (IL)-8 and NF-κB secretion by gastric epithelial cells in response to Helicobacter pylori Human gastricadenocarcinoma cell line (AGS) cells were pretreated with Psyllium extract in different concentrations before H pylori infection. Cell culture supernatant was analyzed for IL-8 and NF-κB by ELISA. RNA from cells was used for real-time polymerase chain reaction for messenger RNA expression of IL-8. Psyllium extract 5 and 10 μg/mL markedly (P \u3c .001) lowered basal IL-8 by 64.71% and 74.51%, respectively, and H pylori-stimulated IL-8 was also (P \u3c .001) lowered by 41.67% and 66.67%, respectively. Psyllium 5 and 10 μg/mL also reduced (P \u3c .0001) cagA-positive H pylori-induced IL-8 mRNA expression by 42.3% and 67.6%, respectively. Psyllium also reduced (P = .0001) NF-κB in response to H pylori strains confirming its role as an anti-inflammatory agent

Ewing\u27s sarcoma arising from the adrenal gland in a young male: a case report

Background: Ewing\u27s sarcoma uncommonly arises from extraosseous soft tissue or parenchymal organs. Primary adrenal Ewing\u27s Sarcoma, although very rare, is extremely aggressive and commonly fatal. CASE PRESENTATION: A 17 year old Pakistani male was referred to the outpatient oncology clinic at our center with a three month history of concomitant pain, swelling and dragging sensation in the right hypochondrium. Abdominal examination revealed a large, firm mass in the right hypochondrium extending into the right lumbar region and epigastrium. His genital exam was unremarkable and there were no stigmata of hepatic or adrenal disease.Computed tomography scans revealed a large peripherally enhancing mass in the hepatorenal area, biopsy of which showed a neoplastic lesion composed of small round blue cells which exhibited abundance of glycogen and stained diffusely positive for CD99 (MIC2 antigen). Fluorescence in situ hybridization demonstrated gene rearrangement at chromosome 22q12 which confirmed the diagnosis of Ewing\u27s sarcoma. Staging scans revealed pulmonary metastasis and hence he was commenced on systemic chemotherapy. CONCLUSION: This case report highlights the importance of keeping Ewing\u27s sarcoma in mind when a young patient presents with a large non-functional adrenal mass

Stiff person syndrome: a diagnostic and management challenge

Stiff person syndrome (SPS) is a rare neurological disorder characterized by progressive muscle stiffness and rigidity, mostly involving axial muscles, resulting in functional disability. It is associated with elevated anti- Glutamic acid decarboxylase (GAD) antibody levels. Electromyography findings are often diagnostic. We present a case of a 48 years old male, who presented with progressive stiffness and rigidity of axial muscles and limbs. His EMG was consistent with SPS. Anti GAD antibodies were markedly elevated. He was treated with rituximab and has improved significantly. SPS is a difficult diagnosis, usually under diagnosed due to lack of awareness among medical community. There is a dire need to further study the disease and invent better treatment options for patients suffering from SPS

Spontaneous intracranial hypotension; three case reports with similar clinical manifestations, treated successfully using different management techniques.

Spontaneous Intracranial hypotension (SIH) is a rare neurological disorder, characterized by orthostatic headaches. Due to the complicity of its diagnosis and lack of awareness amongst physicians, SIH remains an under-diagnosed disease and its true prevalence remains unknown. It is a reversible condition, if diagnosed early. Delay in diagnosis can result in life threatening complications.Case Reports:We present a case series of three patients who presented with typical symptoms of SIH. But management course of each patient varied. The first patient responded well to the EBP (epidural blood patch) while the second improved with conventional symptomatic treatment. The third patient needed a surgical intervention for complication developed due to SIH. This case series hence covers a variety of treatment options for patients with SIH.Conclusion:SIH is an emerging challenge for neurologists worldwide. Awareness amongst physicians regarding this disease along with a high level of suspicion and good history skills will allow early diagnosis of the disease and prevent delay in treatment and hence complications

Banti\u27s syndrome: case report and review of literature.

In 1898 Banti described a disorder characterized by splenomegaly and hypersplenism, resulting in portal hypertension and anemia in the absence of hematological disease. 1 Banti\u27s syndrome is also known as non-cirrhotic portal hypertension (NCPH) in India and Idiopathic Portal Hypertension (IPH) in Japan. Hepatoportal sclerosis seems to be its counterpart in the United States. 2,3 Banti\u27s syndrome is a disorder of unknown etiology, clinically characterized by portal hypertension (varices and portosystemic collateral vessels), splenomegaly, and anemia (hypersplenism). 3 It has been reported from Indian subcontinent. 4-6 In a Pakistani case series of portal hypertension, 18 out of 37 patients were found to have IPH as the etiology. 6 We report a case of Banti\u27s syndrome in an 20-year old girl presenting to us with anemia and splenomegaly