Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.

Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the case of a 24-year-old female who was born with no obvious abnormality at birth. From the age of 1 year, she developed asymmetric enlargement of her left upper limb and bilateral lower limbs leading to enlargement of the right-hand phalanges with radial deviation, enlargement of the right big toe, lateral deviation of left foot, and discrepancy in the length of lower extremities and kyphoscoliosis. She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions.

Eosinophilic Granulomatosis with Polyangiitis (EGPA): A case report with atypical presentation.

A 72-year-old asthmatic gentleman with a history of recurrent sinusitis and chronic bronchitis presented with shortness of breath and progressively worsening hypoxemic respiratory failure. His CT chest demonstrated airspace disease bilaterally with ground-glass opacifications. He had peripheral eosinophilia with raised inflammatory markers but negative work up of infection. On further investigation, ANA was positive, titer 1:160, speckled pattern and both pANCA and cANCA were present. The patient was diagnosed with Eosinophilic Granulomatosis with Polyangiitis (EGPA) and started on intravenous steroids and cyclophosphamide. A rare multi-organ vasculitis, EGPA is hallmarked by asthma, sinusitis and eosinophilia. In initial stages vasculitic involvement is not usually seen thereby making EGPA a diagnostic challenge.

Lupus Vasculitis.

We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers, photosensitivity, weight loss and hair fall. For the last 2 months, she had developed a dry cough with progressive shortening of breath. On examination, a cachexic lady with malar hyperpigmentation, alopecia, pallor, nail dystrophy and erythema over her hands and feet were noted. There were multiple punched-out skin ulcers of variable size over legs, arms and abdomen usually round in shape with well-defined even wound margins and scant serous discharge. Musculoskeletal examination revealed synovitis of both elbows and a few metacarpophalangeal and proximal interphalangeal joints. Chest X-ray and HRCT showed bilateral ground-glass opacification. Anti-Nuclear Antibody (ANA) was positive, 1:320, homogenous nuclear pattern. Anti-Ro antibody was highly positive and serum complement (C3, C4) levels were reduced. She was diagnosed with Lupus Vasculitis and started on steroids, mycophenolate mofetil and hydroxychloroquine.

Refractory Sarcoidosis.

A multi-organ granulomatous disease with characteristic lung manifestations, sarcoidosis generally responds well to glucocorticoid therapy but 10% of cases are refractory necessitating immunosuppressive therapy. A 58-year-old lady presented with a dry cough and progressively worsening shortness of breath for the last 12 months. On investigation, her ESR was raised but cultures, malignancy screen and TB quantiferon were negative. HRCT chest demonstrated multiple pulmonary nodules with hilar lymphadenopathy and CT guided biopsy revealed non-caseating granuloma. She was diagnosed with Pulmonary Sarcoidosis and started on oral steroids with minimal improvement. Azathioprine was added but due to gastric intolerance switched to methotrexate. Her disease however continued to worsen and infliximab was started but she developed a severe allergic reaction. She was then started on mycophenolate mofetil but her chest imaging continued to worsen. After failing prednisone, azathioprine, methotrexate, infliximab and mycophenolate mofetil, the patient was started on rituximab.

Prostatitis As An Initial Presentation For Granulomatosis With Polyangiitis.

Granulomatosis with polyangiitis (GPA) is an uncommon pauci-immune small-vessel necrotising granulomatous vasculitis mostly seen in age 45-60 years. We present the case of a formerly healthy 44 years old male presenting with dysuria and intermittent urinary retention for 8 months, not responding to empirical antibiotic therapy and TURP. A prostate biopsy showed necrotising granulomatous prostatitis. Urinalysis demonstrated persistent pyuria and haematuria, but cultures showed no growth. Subsequently he complained of fever, cough, dyspnoea and skin ulcers. CT of the chest showed multiple cavitatory lesions and pleural effusion. On work up, c-ANCA was positive and a diagnosis of granulomatosis with polyangiitis was established. This depicts a rarely seen presentation of prostatitis as the initial feature of GPA.

Prevalence Of FLT-3 Mutation In Acute Myeloid Leukaemia.

BACKGROUND: FLT-3 mutation is a valuable prognostic marker in patients of AML being related with bad prognosis and poor clinical response to conventional chemotherapeutic agents. Frequency of FLT-3 mutation in AML varies from 25% to 35%. The objective of this study was to determine prevalence of FLT-3 mutation in patients with Acute Myeloid Leukaemia. METHODS: This observational cross-sectional Study was conducted in Department of Oncology, Jinnah Hospital Lahore from 1st October 2018 to 31st March 2019. Patients with acute myeloid leukaemia, aged 15-60 years, of both genders were included. After taking consent, demographic data was noted. Three ml of sample of blood was obtained from each patient and sent for detection of FLT-3 mutation. Data was analysed using SPSS version 20.0. Chi square test was applied, pvalue <0.05 significant. RESULTS: A total of 180 patients were enrolled in this study. The mean±SD age of patients was 34.72±14.3 years, among which 38.3% were female and 61.7% male. The mean±SD duration of disease was 3.39±2.8 months. The mean±SD haemoglobin level, TLC and platelet counts were 7.2±2.3 g/dl, 30,913±63,573 per cm and 58.6±52.3×103 per cm. The blast cell (%) count was 69.6±19.8. FLT-3 mutation was present in 18.9%. CONCLUSIONS: We conclude that FLT-3 mutation to be present in only a minority of patients with Acute Myeloid Leukaemia having no significant association with age, sex, haemoglobin, WBCs and blast counts.

Is anaemia frequent in HIV/AIDS patients presenting to a tertiary care hospital?

OBJECTIVE: To determine the frequency of anaemia among patients with human immune-deficiency virus / acquired immunodeficiency syndrome. METHODS: The descriptive cross-sectional single-blind study was conducted at Jinnah Hospital, Lahore, Pakistan, from June 25 to December 25, 2016, and comprised human immune-deficiency virus / acquire immunodeficiency syndrome patients diagnosed at least 3 months earlier. Demographic information was obtained along with sample of patient's blood for haemoglobin level estimation. Anaemia was defined as haemoglobin <13 g/dL in males and <12 g/dL in females. Data was analysed using SPSS 20. RESULTS: Of the 230 patients, 100(43.7%) were females and 130(56.5%) were males. The overall mean age was 37.99±14.48 years. The mean haemoglobin level was 11.08±2.44 g/dl; 113(49.1%) 8 12 g/dl, 26(11.3%) <8g/dl, and 91(39.6%) >12g/dl. Overall, 152(66.1%) patients were anaemic and 78(33.9%) were normal. Age and socioeconomic status were significantly associated with anaemia status (p<0.05). CONCLUSIONS: Anaemia was a common finding among human immune deficiency virus / acquired immunodeficiency syndrome patients.

Is Lactulose Plus Rifaximin Better than Lactulose Alone in the Management of Hepatic Encephalopathy?

OBJECTIVE: To compare the efficacy of lactulose plus rifaximin with efficacy of lactulose alone in the treatment of hepatic encephalopathy. STUDY DESIGN: A randomized controlled trial. PLACE AND DURATION OF STUDY: Department of Medicine, Jinnah Hospital, Lahore, from December 2014 to June 2015. METHODOLOGY: All patients who presented with hepatic encephalopathy due to decompensated chronic liver disease were randomly divided into two groups of 65 patients each. One group was given 30 ml thrice daily lactulose alone and the other lactulose plus rifaximin 550 mg twice daily for 10 days. Informed consents were taken from the participants' attendants. Grades II-IV hepatic encephalopathy was noted according to West-Haven Classification. All subjects were followed until 10 days after admission. RESULTS: The mean age of patients was 56.06 +11.2 years, among which 46.9% were females and 53.1% were males. After ten days of follow-up, reversal was seen in 58.46% in lactulose alone group and 67.69% in lactulose plus rifaximin group (Chi-square p=0.276). CONCLUSION: There was no difference in effectiveness of lactulose plus rifaximin and lactulose alone in treatment of hepatic encephalopathy.