Publications by authors named "Mahir Petkar"

37 Publications

Gastric glomus tumor presenting with massive upper GI bleeding: A challenging to diagnose and treat tumor.

Clin Case Rep 2022 Aug 3;10(8):e6172. Epub 2022 Aug 3.

Department of Pathology Hamad Medical Corporation Doha Qatar.

Glomus tumors are infrequent benign tumors that originate from the glomus body and can be found anywhere in the body including the gastrointestinal tract. It is rare that gastric glomus tumors present with life-threatening upper GI bleeding. Diagnosis of gastric glomus tumors poses a challenge due to overlapping endoscopic and endosonographic features with other gastric subepithelial lesions, and the final diagnosis may not be clear until after surgical resection and pathological examination. We report the case of a 61-year-old patient who presented with massive upper GI bleeding secondary to an ulcerated gastric glomus tumor that was eventually treated with surgical wedge resection of the tumor.
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http://dx.doi.org/10.1002/ccr3.6172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347322PMC
August 2022

Visceral Basidiobolomycosis Causing Bowel Ischemia.

Cureus 2022 Jun 21;14(6):e26157. Epub 2022 Jun 21.

Colorectal Surgery, Hamad Medical Corporation, Doha, QAT.

 is a rare fungal infection caused by saprophyte . It is rarely seen in healthy adult patients; however, it usually affects children. The commonly involved sites are skin and subcutaneous tissue, mostly found in the Middle East and the southwestern United States. The diagnosis is challenging because of the lack of specific clinical presentation and the absence of predisposing factors. In our case report, we discuss a 38-year-old male patient who presented with a 2-months history of right lower quadrant pain. Initially, his pain was intermittent and gradually increased in intensity; it localized to the right lower quadrant and radiated to the right flank region. No relieving or aggravating factors were noted. In addition, the patient mentioned a history of constipation, weight loss, decreased appetite, and vomiting-however, no history of fever, night sweats, trauma, or recent travel. The diagnosis was made based on computerized tomography (CT) guided biopsy of the mass, illustrating the findings of fungal hyphae with a gradual increase in the eosinophilic count since admission. The patient was managed using a combined medical and surgical approach, including surgical debulking of the mass and a well-monitored course of anti-fungal therapy. Gastrointestinal basidiobolomycosis infection (GBI) can present in many forms, with an increasing potential to invade the colon, ultimately forming an inflamed mass. Nonetheless, the presence of a mass invading the colon, adjacent vessels, and a retroperitoneal area, along with an increase in the number of eosinophil count in the Middle East region, should raise the suspicion of basidiobolomycosis fungal infection.
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http://dx.doi.org/10.7759/cureus.26157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302554PMC
June 2022

Cardiac Metastases from Choroidal Melanoma.

Clin Case Rep 2022 Jul 18;10(7):e6080. Epub 2022 Jul 18.

Department of Medical Oncology, National Centre for Cancer Care and Research Hamad Medical Corporation Doha Qatar.

In patients with uveal melanoma, cardiac metastases can present without any symptoms. It is becoming more common than previously thought and highlights the importance of routine surveillance after definitive treatment.
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http://dx.doi.org/10.1002/ccr3.6080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290777PMC
July 2022

Subacute (De Quervain's) thyroiditis presenting as painful thyroid nodule suspicious of papillary thyroid carcinoma: Case report.

Int J Surg Case Rep 2022 Jun 23;96:107329. Epub 2022 Jun 23.

Department of General Surgery, Hamad General Hospital, Doha, Qatar.

Introduction: We report a case of subacute thyroiditis (SAT) in a 29 -year-old female who presented with painful thyroid swelling.

Presentation Of Case: Patient presented with neck pain, tender neck swelling and generalized fatigue. She had no history of neck or chest radiation or compressive symptoms. Ultrasound (US) imaging reveled bilateral nodules of the thyroid gland. Lymph nodes were unremarkable. FNAC was suspicious for papillary thyroid carcinoma. The patient was discussed at the thyroid multidisciplinary meeting, and after deliberation the decision was to offer the patient the choice of repeating FNAC of the bilateral nodules in one month or to proceed with total thyroidectomy.

Discussion: Despite being aware of the possibility that the final pathology could be benign, the patient insisted on total thyroidectomy, given that her FNAC results were suspicious of papillary thyroid carcinoma, and in order to avoid recurrence of the condition and the pain. Following the patient's preference, total thyroidectomy was performed, and surgery was not straightforward as intraoperatively, there was a diffusely inflamed gland. Histopathology findings revealed benign pathology. Follow up until 1.5 years showed that the patient was satisfied, and with normal voice.

Conclusion: SAT is a painful but potentially self-limiting. In some cases, FNAC findings might be suspicious for papillary thyroid carcinoma. Treatment is mostly conservative, but if the pain is severe and the patient insists on surgery as in our case despite the possibility of the condition being of benign pathology, then surgery should be undertaken.
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http://dx.doi.org/10.1016/j.ijscr.2022.107329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9284041PMC
June 2022

Atypical parathyroid adenoma: Series of two consecutive cases from a tertiary care hospital in Qatar.

Int J Surg Case Rep 2022 Jun 10;96:107296. Epub 2022 Jun 10.

Department of General Surgery, Hamad General Hospital, Doha, Qatar. Electronic address:

Introduction: Atypical parathyroid adenomas (APA) are an uncommon cause of hypercalcemia and comprise a minority of parathyroid adenomas.

Presentation Of Cases: Case 1 - Egyptian male, 48 years old with history of type 2 diabetes mellitus, incidentally discovered increased serum of calcium level on routine investigation, was diagnosed as PHPT, US and MIBI scan showed large left inferior parathyroid adenoma, focused exploration and excision of the APA was undertaken, histopathology confirmed APA. Case 2 - Egyptian male, 60 years old, cardiac patient with history of diabetes, hypertension and multiple cardiac interventions, had nausea, vomiting, constipation abdominal pain, polyuria, polydipsia, and history of passing renal stones, hypercalcemia workup showed primary hyperparathyroidism (PHPT), MIBI was negative and SPECT scan suggested right inferior parathyroid adenoma, focused exploration and excision of the APA was undertaken, histopathology confirmed APA.

Discussion: APA are an uncommon cause of hypercalcemia and are responsible for a minority of parathyroid adenomas. Combined US and MIBI and SPECT scans can detect APA. Focused exploration and excision of the APA under general anaesthesia can completely remove the APA.

Conclusion: Awareness of the physician and a high index of suspicion to symptoms or signs that could reflect an underlying PHPT is essential. Yearly biochemical and neck US follow up are required to detect any risk of recurrence or malignancy in the long term.
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http://dx.doi.org/10.1016/j.ijscr.2022.107296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233270PMC
June 2022

Primary Hepatic Epithelioid Hemangioendothelioma Masquerading as a Hepatic Abscess With Infective Picture: A Case Report.

Cureus 2022 Mar 5;14(3):e22859. Epub 2022 Mar 5.

Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, QAT.

Hepatic endotheiloid hemangioendothelioma (EHE) commonly presents with multilobar involvement with locally aggressive behavior. In most cases, it presents with right upper quadrant abdominal pain, hepatomegaly, and weight loss with metastasis commonly to the lung. We present a 33-year-old woman with hepatic EHE with an initial presentation mimicking hepatic abscess and imaging findings misleading for metastatic liver lesions. It was confirmed on pathology with immunohistochemistry, but the patient could not survive due to her late presentation and the presence of metastatic lesions in the lung.
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http://dx.doi.org/10.7759/cureus.22859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977811PMC
March 2022

Refractory Hyperammonemic encephalopathy in Fibrolamellar hepatocellular carcinoma, a case report and literature review.

Curr Probl Cancer 2022 06 2;46(3):100847. Epub 2022 Mar 2.

Department of Medical Intensive Care, Hamad Medical corporation, Doha, Qatar.

Fibrolamellar hepatocellular carcinoma is a rare type of hepatocellular carcinoma with unclear etiology. Its prevalence ranges from 0.6%-5%. One of the rare manifestations of FHCC includes hyperammonemic hepatic encephalopathy (HAE). Data regarding HAE in FHCC is limited to case reports, and much is unknown, including its precipitating factors, clinical course, and management. We have reported one such case of FHCC associated HAE and presented an extensive literature review on the topic. We report the case of a 26-year-old Pakistani male who was diagnosed with fibrolamellar hepatocellular carcinoma. On day five after the first chemotherapy, he presented with nausea, vomiting, and confusion. His serum ammonia level was raised, and he was treated with lactulose and rifaximin. The patient continued chemotherapy and had recurrent admissions with HAE. A detailed workup revealed acquired ornithine transcarbamylase deficiency. Ammonia level peaked at 694 umol/L during the clinical course of his disease. He received treatment with multiple ammonia scavengers, including sodium benzoate + phenylacetate, with relief of symptoms and reduction in ammonia level. The patient was eventually lost to follow-up. HAE presents as a paraneoplastic manifestation of FHCC. Patients have laboratory features suggestive of acquired ornithine transcarbamylase deficiency. There is a variable frequency of episodes reported in the literature. Most patients respond well to ammonia scavenger therapies rather than conventional HE management with lactulose or rifaxmin.
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http://dx.doi.org/10.1016/j.currproblcancer.2022.100847DOI Listing
June 2022

Time equals sight: Sphenoid sinus aspergilloma with vision loss.

IDCases 2022 1;27:e01440. Epub 2022 Feb 1.

Department of Infectious Diseases, Communicable Diseases Centre, Hamad Medical Corporation, Doha, Qatar.

Sphenoid sinus aspergilloma (SSA) with visual loss has rarely been reported. Timely recognition and prompt surgical intervention are crucial to avoid permanent neurological consequences.
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http://dx.doi.org/10.1016/j.idcr.2022.e01440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829556PMC
February 2022

Sausage digit: Isolated tuberculous tenosynovitis of the middle finger.

IDCases 2022 1;27:e01438. Epub 2022 Feb 1.

Department of Infectious Diseases, Communicable Diseases Centre Hamad Medical Corporation, Doha, Qatar.

Isolated tuberculous tenosynovitis is a rare form of extra-pulmonary tuberculosis that frequently eludes assessment and constitutes diagnostic challenges.
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http://dx.doi.org/10.1016/j.idcr.2022.e01438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829555PMC
February 2022

What you see might not be what you get: Analysis of 15 prospective cases of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).

Int J Surg Case Rep 2022 Feb 5;91:106751. Epub 2022 Jan 5.

Department of Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.

Introduction: Noninvasive follicular thyroid neoplasm with papillary-like nuclear (NIFTP) is a new entity. No previous study reported prospective cases, outlining using many quantitative and qualitative variables.

Methods: Retrospective analysis of all (15) prospective NIFTP cases diagnosed between 2017 and 2021 at our institution. Statistical quantitative analysis outlined demographic, history, ultrasound, histopathology and treatment characteristics. Qualitative analysis examined the cases, with details provided on three cases to highlight the different possible presentations and configurations.

Results: Mean age was 41.5 ± 9.91 years, 73.3% were females, and mean BMI was 29.49 ± 5.74 kg/m. About 87% patients were symptomatic; 86.6% had neck swelling. Ultrasound (US) showed multiple nodules in 71.4% of cases. Fine-needle aspiration cytology (FNAC) showed that follicular lesion of undetermined significance (42.8%) was most common, followed by benign nodule (21.3%). Using the Bethesda System for Reporting Thyroid Cytopathology, 7 cases were category III, 3 category IV, 3 category II, and 1 category I. 60% of patients underwent total thyroidectomy. All cases were diagnosed postoperatively, 2 patients had additional papillary microcarcinoma. In 3 cases, the NIFTP site in the histopathology of resected specimen was different than the US-recommended site of the FNAC.

Conclusion: We found discrepancies in the site and diagnosis of the preoperative US recommendation for the FNAC vs the postoperative histopathology of the specimen. These suggest that NIFTP might be incidentally and postoperatively diagnosed, irrespective of US or FNAC findings, hence its 'true' incidence might remain underestimated. As NIFTP cases higher BMI, Future research could predict preoperative diagnosis of NIFTP and explore associations with BMI.
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http://dx.doi.org/10.1016/j.ijscr.2021.106751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8858746PMC
February 2022

Leukocyte chemotactic factor 2-related amyloidosis presenting with severe jaundice and hepatic encephalopathy.

Clin Case Rep 2021 Dec 5;9(12):e05185. Epub 2021 Dec 5.

Department of Medicine Hamad Medical Corporation Doha Qatar.

Amyloidosis is a well-known disease with various types and subtypes. One of the most recently identified types is leukocyte chemotactic factor 2 amyloidosis (LECT 2), which was found to be common in certain ethnic backgrounds. It is suggested that the diagnosis of this type is vital to prevent any therapy-related complications when it is erroneously diagnosed as AL amyloidosis. The clinical presentation is usually slowly progressive kidney disease and mild hepatic impairment. We report a case of LECT2 amyloidosis, which presented with severe painless cholestasis and hepatic encephalopathy alongside progressive kidney disease.
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http://dx.doi.org/10.1002/ccr3.5185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645169PMC
December 2021

Late Cystic Metastasis of an Ovarian Granulosa Cell Tumor to the Liver.

Cureus 2021 Sep 17;13(9):e18051. Epub 2021 Sep 17.

Department of Surgery, Hamad Medical Corporation, Doha, QAT.

Granulosa cell tumor (GCT) is a unique form of sex cord tumor that is mostly unilateral and of low-grade malignancy. Most GCT recurrence is with pelvic or peritoneal dissemination. Liver metastasis is rarely reported. This study reports a rare case of GCT with liver metastasis nine years post initial presentation. We also discuss surgical intervention, radiological findings, histology, treatment approaches, and review of similar reported cases.
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http://dx.doi.org/10.7759/cureus.18051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8520693PMC
September 2021

Glomus tumours of the upper limb and hand. A clinicopathological review of cases over two decades.

J Hand Surg Eur Vol 2022 04 14;47(4):419-420. Epub 2021 Oct 14.

St Andrews Centre for Plastic Surgery and Burns, Broomfield Hospital, Chelmsford, UK.

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http://dx.doi.org/10.1177/17531934211049632DOI Listing
April 2022

Metastatic angiosarcoma of the scalp presented as posttraumatic subgaleal hematoma: The many faces of a diagnostic challenge.

Radiol Case Rep 2021 Sep 23;16(9):2812-2816. Epub 2021 Jul 23.

Department of Clinical Imaging, Hamad Medical Corporation, Doha, Qatar.

Angiosarcomas represent highly-aggressive malignant lesions of the endothelial cells of blood vessels, affecting mostly the elderly population, and usually located in the scalp or face. As cutaneous angiosarcomas often metastasize to the lung, they can manifest in various forms. We report a case of a 77-year-old male who presented after a posttraumatic blunt scalp lump that was initially diagnosed as infected subgaleal hematoma. This was later found to be an angiosarcoma. Further workup revealed that the tumor was invading the dura, with a rare pattern of mixed concomitant cystic and solid lung metastasis with ground-glass infiltrates. The patient underwent soft tissue reconstruction with split-thickness skin graft for the scalp lesion and palliative chemotherapy. We are discussing the common manifestations of scalp angiosarcomas and their potential pulmonary metastatic patterns. Also, a review of the differential diagnoses that may mimic cutaneous scalp angiosarcoma will be demonstrated.
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http://dx.doi.org/10.1016/j.radcr.2021.06.083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325064PMC
September 2021

SARS-CoV-2 and guttate psoriasis: A case report and review of literature.

Clin Case Rep 2021 Jul 16;9(7):e04568. Epub 2021 Jul 16.

Internal Medicine Department Hamad Medical Corporation Doha Qatar.

Guttate psoriasis is a rare dermatological presentation of SARS-CoV-2 infection and is seen mainly in patients with an underlying disease psoriasis.
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http://dx.doi.org/10.1002/ccr3.4568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283862PMC
July 2021

First case of huge classic papillary thyroid cancer rupturing spontaneously leading to ischemic necrosis, perforation and inflammation of overlying skin: Case report and review of the literature.

Int J Surg Case Rep 2021 Aug 29;85:106136. Epub 2021 Jun 29.

Department of General Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.

Introduction: Papillary thyroid cancer (PTC) is the commonest form of well-differentiated endocrine carcinoma. It is categorized into indolent and aggressive, where the indolent subtypes (classic, follicular) rarely demonstrate aggressive behavior. We present a classic PTC presenting with a rapidly growing huge anterior neck mass that subsequently spontaneously ruptured subcutaneously resulting in ischemia, necrosis, and perforation of overlying skin leading to inflammation.

Presentation Of Case: A 37-year-old female with no comorbidities presented to our emergency department with a neck swelling of 2 years duration that rapidly enlarged one week prior to presentation. Though the mass initially appeared of inflammatory nature, the tumor was a PTC, and she underwent total thyroidectomy with selective right side neck dissection and debridement of necrotic skin. The gross specimen revealed a fragmented non-intact right thyroid lobe mass causing pressure ischemia, necrosis and perforation of the skin. Histopathology showed a 9 × 9 × 5 cm classic PTC staged as pT3b N1b. Postoperative course was uneventful, she was discharged by the eighth postoperative day, and then she received a high dose of radioactive iodine ablation (RAI).

Discussion: Classic PTC is usually of a smaller size and a relatively benign course compared to other PTC subtypes and thyroid cancers. It is indolent with favorable prognosis. Although it is associated with increased risk of lymph node metastases at the time of diagnosis, it is slow growing with high survival rates approaching 95%.

Conclusion: Despite that classic PTC progresses slowly, it should still be suspected in neck swellings presenting with rapid and aggressive behavior. Prompt and systematic assessment is required with surgical intervention and radioactive iodine ablation therapy.
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http://dx.doi.org/10.1016/j.ijscr.2021.106136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8313845PMC
August 2021

Glottic Malignant Fibrous Histiocytoma: A Case Report and Literature Review.

Case Rep Oncol 2021 Jan-Apr;14(1):641-646. Epub 2021 Mar 31.

Hazm Mebaireek General Hospital (HMGH), Hamad Medical Corporation (HMC), Doha, Qatar.

Pleomorphic sarcoma of the larynx is a rare variant of laryngeal cancer. We present the case of a 59-year-old male patient who has been smoking for 40 years. He presented with signs and symptoms of an obstructive glottic mass. The diagnostic workup pointed to a malignant pathology; the histopathology report confirmed the diagnosis of glottic undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma).
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http://dx.doi.org/10.1159/000514977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077659PMC
March 2021

Nasal-alar invasive cutaneous aspergillosis in a patient with anaplastic astrocytoma: A case report.

Clin Case Rep 2021 Apr 8;9(4):2295-2299. Epub 2021 Mar 8.

Otolaryngology Department Ambulatory Care Center (ACC) Hamad Medical Corporation (HMC) Doha Qatar.

Invasive aspergillosis is commonly encountered in immunosuppressed patients either primarily through direct inoculation or secondary from blood dissemination. This report describes a case of 53 years old immunocompromised female patient who was diagnosed with frontotemporal anaplastic astrocytoma and developed nasal skin lesion turned to be invasive cutaneous aspergillosis.
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http://dx.doi.org/10.1002/ccr3.4018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077370PMC
April 2021

Hepatitis E Viral Association with Autoimmune Hepatitis: A Viral Trigger or Cross-Reactivity.

Case Rep Gastroenterol 2021 Jan-Apr;15(1):115-122. Epub 2021 Feb 3.

Department of Medicine, Hamad Medical Corporation, Doha, Qatar.

Autoimmune hepatitis (AIH) is a chronic disease characterized by hepatocellular inflammation and destruction. Its pathogenesis remains unclear. Current evidence suggests that environmental factors, including viral infections, are implicated as possible triggers. We present a case of a 36-year-old lady with systemic lupus erythematosus who presented with abdominal pain, nausea, vomiting, and jaundice. She was initially diagnosed as acute hepatitis E virus (HEV) infection based on positive serology, but she did not improve with conservative management. Subsequently, she underwent liver biopsy that showed features characteristic of AIH. We discuss the role of HEV as a possible trigger of AIH. We also highlight the possibility of cross-reactivity between liver antigens and HEV as an explanation for the positive HEV serology in AIH. We explore the management options of cases in which both acute HEV infection and AIH coexist, which might be challenging as there is no current consensus whether to start immunosuppressive therapy or to manage such cases conservatively. Moreover, we discuss previous similar cases in which different lines of management were chosen.
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http://dx.doi.org/10.1159/000509494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923706PMC
February 2021

Ancient foe spectra: Case series of Mycobacterium tuberculosis presentations.

Clin Case Rep 2021 Feb 5;9(2):714-717. Epub 2020 Dec 5.

Department of Infectious Diseases Communicable Diseases Centre Doha Qatar.

Extrapulmonary tuberculosis frequently eludes assessment through atypical presentations and constitute diagnostic challenges. High degree of suspicion with aids of GeneXpert MTB/RIF can clinch the diagnosis and avoid unnecessary consequences.
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http://dx.doi.org/10.1002/ccr3.3616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869353PMC
February 2021

Immune-mediated drug-induced liver injury secondary to Omeprazole: A case report.

Clin Case Rep 2020 Dec 27;8(12):3421-3426. Epub 2020 Oct 27.

Department of Internal Medicine Hamad General Hospital Hamad Medical Corporation Doha Qatar.

Omeprazole is a rare cause of DILI with autoimmune hepatitis features and should be considered when seeing patients with acute liver injury. The causative drug should be promptly identified and discontinued to avoid any permanent liver damage.
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http://dx.doi.org/10.1002/ccr3.3421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752310PMC
December 2020

Heterotopic Gastric Mucosa in the Ileum: A Rare Cause for Intussusception in Adults.

Case Rep Gastroenterol 2020 Sep-Dec;14(3):609-614. Epub 2020 Nov 11.

Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.

Intussusception is the leading cause for intestinal obstruction in children. However, it accounts for only 5% of bowel obstructions in adults. Heterotopic gastric mucosa (HGM) can occur anywhere in the gastrointestinal tract; nevertheless, its occurrence in the small intestine is rare unless associated with remnants of vitelline duct (Meckel's diverticulum). Herein, we describe a case of a 33-year-old male who presented with symptoms and signs of intestinal obstruction caused by ileo-colic intussusception, in which polypoid HGM acted as the organic lead point for intussusception. Several cases of intussusception caused by HGM have been reported in pediatric age group; however, this event is exceedingly rare in adults.
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http://dx.doi.org/10.1159/000509504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747077PMC
November 2020

Primary cutaneous malignant melanoma in Rett syndrome: Report of a case with nuclear features resembling herpes simplex virus cytopathic effects-a hitherto unrecognized morphological variant.

J Cutan Pathol 2021 Jul 24;48(7):908-910. Epub 2021 Jan 24.

Department of Histopathology, Broomfield Hospital, Chelmsford, UK.

Rett syndrome (RTT) is a progressive neurological disorder, affecting females with mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). While MECP2 has been implicated in cancers of the breast, colon, and prostrate, cancer in patients with RTT is rare. We present a case of malignant melanoma in a patient with RTT, which additionally, displayed hitherto undescribed nuclear features, resembling herpes simplex virus cytopathic effects.
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http://dx.doi.org/10.1111/cup.13943DOI Listing
July 2021

First bilateral non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) co-occurring with bilateral papillary thyroid microcarcinoma. Case report and literature review.

Int J Surg Case Rep 2021 Jan 2;78:411-416. Epub 2020 Dec 2.

Department of General Surgery, Hamad General Hospital, Doha, Qatar.

Introduction: Non-invasive follicular thyroid neoplasm with papillary-like features (NIFTP) is a recently characterized lesion with very low malignant potential. This has allowed for less aggressive management of this tumor subtype. Papillary thyroid carcinoma (PTC) has malignant potential and requires different considerations in management.

Presentation Of Case: A 33-year-old woman presented to our Thyroid Surgery Clinic with a left neck swelling slowly enlarging over 4 years, and recent right-sided neck pain. Neck ultrasound and fine needle aspiration for cytology found bilateral thyroid nodules, labelled as 'follicular lesion of undetermined significance' (FLUS). Final pathology report after total thyroidectomy identified four distinct tumors: bilateral NIFTP lesions and bilateral papillary microcarcinomas.

Discussion: Management of NIFTP comprises partial or total thyroidectomy without further intervention. Management of PTC is the same but with the possible addition of radioactive ablation due to the increased malignant potential. This is the first report of bilateral NIFTP lesions and bilateral papillary microcarcinomas co-occurring together in the same patient, so management was challenging. The decision was made to give the patient low dose radioactive iodine ablation and continue monitoring. Ultrasound of the neck follow up 6 months later showed no residual thyroid tissue or local recurrence.

Conclusion: Although rare, NIFTP can co-occur with PTC. Bilateral NIFTP with bilateral PTC is extremely rare. Surgeons and pathologists need to be aware of this rare entity that can co-occur in both thyroid lobes. Total thyroidectomy is the definitive treatment. Post-surgery surveillance is important and follow up needs to be watchful for any recurrence or metastasis.
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http://dx.doi.org/10.1016/j.ijscr.2020.11.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814091PMC
January 2021

Generalized Progressive Papulonodular Skin Lesions in a 37-Year-Old Man: Answer.

Am J Dermatopathol 2020 12;42(12):1008-1009

Department of Laboratory Medicine & Pathology, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1097/DAD.0000000000001609DOI Listing
December 2020

A Unique Case of Low-Grade Mucinous Neoplasm in Stump Appendectomy.

Case Rep Surg 2020 14;2020:8850403. Epub 2020 Sep 14.

Department of Acute Care Surgery, Hamad Medical Corporation, Doha, Qatar.

Background: We describe a case of a young male with a history of appendectomy one year ago, who developed symptoms of stump appendicitis, and after removing this stump, histopathology showed low grade neoplasm. . Stump appendicitis is an uncommon complication after appendectomy and may lead to serious complications. Management of low-grade appendiceal mucinous neoplasm (LAMN) is controversial, and we discuss the importance of the case.

Conclusion: The case of young male post stump appendectomy with histopathology showing LAMN in the stump of the appendix, which to our knowledge, is the first in the medical literature and, discuss the stump appendicitis and incomplete appendectomy concerning malignancy, mucinous neoplasm, and adenocarcinoma.
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http://dx.doi.org/10.1155/2020/8850403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7512081PMC
September 2020

Differential gene expression of tumor-infiltrating CD8 T cells in advanced versus early-stage colorectal cancer and identification of a gene signature of poor prognosis.

J Immunother Cancer 2020 09;8(2)

Cancer Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar

Background: Cytotoxic CD8 T cell-mediated response is the most important arm of adaptive immunity, which dictates the capacity of the host immune response in eradicating tumor cells. Due to tumor intrinsic and/or extrinsic factors, the density and function of CD8 tumor-infiltrating lymphocytes (TILs) could be compromised, leading to poor prognosis and survival.

Methods: Using RNA-Seq, transcriptomes of sorted CD3CD8 TILs from treatment-naïve colorectal cancer (CRC) patients at advanced stages (III and IV) were compared with those from patients with early stages (I and II). A signature referred to as 'poor prognosis CD8 gene signature (ppCD8sig)' was identified and analyzed in The Cancer Genome Atlas CRC dataset. Scores for the ppCD8sig were calculated and classified as high, intermediate and low, and its prognostic significance was assessed using multivariate analysis and Cox proportional hazard model. Densities of CD3 and CD8 T cell infiltration in tumors from patients with high and low ppCD8sig scores were assessed by flow cytometry and immunostaining.

Results: Genes related to epigenetic regulation and response to hypoxia were upregulated in CD8 TILs from patients with advanced stages, while genes related to T cell activation, cell proliferation and cell cycle were downregulated. Patients with high ppCD8sig score had poorer disease-specific survival (DSS) and shorter progression-free interval (PFI). The ppCD8sig was an independent prognostic indicator for DSS (HR 1.83, 95% CI 1.40 to 2.38, p<0.0001) and PFI (HR 1.42, 95% CI 1.04 to 1.93, p=0.026). Additionally, patients with high ppCD8sig score were more likely to have advanced stages (χ p<0.0001) and residual disease after primary therapy (χ p=0.046). Patients with high ppCD8sig score had reduced levels of CD3 and CD8 TILs and low Immunoscores (IS), compared to patients with low ppCD8sig score.

Conclusions: Our data provided insights into the altered regulation of biological mechanisms and signaling pathways in CD8 TILs during CRC progression, and revealed a gene signature as an independent prognostic indicator. Patients with high ppCD8sig score had lower levels of TILs and low IS. These data further confirm the prognostic value of the identified ppCD8sig and potentially highlight its clinical relevance.
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http://dx.doi.org/10.1136/jitc-2020-001294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7511623PMC
September 2020

Two separate tumours-Concomitant papillary carcinoma in thyroglossal duct cyst and right thyroid lobe: Case report and review of the literature.

Int J Surg Case Rep 2020 17;73:257-262. Epub 2020 Jul 17.

Department of General Surgery, Hamad General Hospital, Doha, Qatar.

Introduction: Malignancy of thyroglossal duct cyst (TGDC) is rare, usually as papillary carcinoma, and less frequently as squamous cell or follicular carcinoma. TGDC carcinoma can present as a mass arising from the neck, with or without compression symptoms. Papillary carcinoma in TGDC concomitant with another papillary carcinoma in the thyroid gland is extremely rare.

Presentation Of Case: 31 years old female with a neck lump since 2 years, slowly increasing in size, with mild pain while drinking fluids, and no change of voice. No past history of neck irradiation or family history of thyroid cancers. Ultrasonography of the neck showed TGDC and right thyroid nodule. Ultrasound guided fine needle aspiration and cytology of the TGDC showed TGDC papillary carcinoma. The patient underwent Sistrunk's procedure and total thyroidectomy.

Discussion: Rare case of classic papillary carcinoma arising in TGDC, concomitant with another papillary carcinoma in the right thyroid nodule. Preoperative work up included US and fine needle aspiration and cytology (FNAC). Post-operative histopathology showed papillary carcinoma in the TGDC; and another in the right thyroid lobe that was a papillary carcinoma with follicular patterns.

Conclusions: TGDC carcinoma concurrent with another carcinoma in the right thyroid lobe as two separate tumours are extremely rare. All patients should undergo Sistrunk's procedure, and total thyroidectomy for the thyroid tumour. Follow-up requires thyroxine replacement therapy to treat hypothyroidism and to suppress TSH in order to prevent recurrence; and neck ultrasound and thyroglobulin tumour marker to detect recurrence if present.
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http://dx.doi.org/10.1016/j.ijscr.2020.07.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393466PMC
July 2020

Recurrent nasopharyngeal rhinosporidiosis: Case report from Qatar and review of the literature.

IDCases 2020 3;21:e00901. Epub 2020 Jul 3.

Department of Infectious Diseases, Communicable Diseases Centre, Qatar.

Rhinosporidiosis is a chronic granulomatous infectious disease that predominantly affects the mucosal membranes of the nose and nasopharynx. The disease is caused by Rhinosporidium seeberi, an eukaryotic pathogen with distinct geographical distribution particularly in tropical and subtropical areas acquired mainly through aquatic exposure. We report a case of a young Nepalese male who presented with recurrent right nasopharyngeal mass where surgical excision and histopathological examination confirmed the diagnosis following distinct pathognomonic findings. There is no optimal effective management of the disease and surgical excision coupled with cauterization to prevent recurrence is the recommended best option since medical treatment alone is ineffective. The clinical presentation, assessment and management options are reviewed.
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http://dx.doi.org/10.1016/j.idcr.2020.e00901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355714PMC
July 2020

A case of mycetoma-like chromoblastomycosis in Qatar.

IDCases 2020 30;21:e00853. Epub 2020 May 30.

Department of Infectious Diseases, Qatar.

Chromoblastomycosis is one of the neglected tropical mycoses associated with chronic infection of the skin and subcutaneous tissues. We report a case of 49-year-old patient originally from India presented with a mycetoma-like lesion in his right foot which was slowly progressing over three-year period. The diagnosis of chromoblastomycosis was confirmed following surgical excision and identification of the unique histological pathology of muriform bodies. The patient was subsequently treated with a prolonged course of oral itraconazole with a favorable outcome. The clinical presentations, assessment and management of the disease are outlined.
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http://dx.doi.org/10.1016/j.idcr.2020.e00853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283144PMC
May 2020
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