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ABSTRACT Propionic acidemia (PA) is an inherited autosomal recessive disorder of metabolism caused by a deficiency of propionyl CoA carboxylase, an enzyme that catalyses the conversion of propionyl CoA (PCA) to methylmalonyl CoA, inside the mitochondria, leading to inadequate metabolism of propionyl...
By Sema Turker, Deniz Suha Kucukaksu, Vedat Bakuy, Saime Ramadan, Ozlem Yenidunya
ABSTRACT Cardiac metastases are the most common cardiac tumours. Any malignant tumour can metastasise to heart, but the most common causes of cardiac metastases are melanoma, lung, breast, oesophageal, and haematological malignancies. Endometrial stromal sarcoma (ESS) is a very rare endometria...
By Wang Ruoxi, Zhang Yiwei, Liang Jun, Li Yi, Wang Jian
ABSTRACT We report a rare case of intrauterine molar pregnancy along with ectopic tubal pregnancy. A 33-year woman who had never been pregnant had an ultrasound (US) after 70 days of amenorrhea suggesting partial hydatidiform mole, with a history of ovulation promotion and pathologically confirmed c...
ABSTRACT Mixed Connective Tissue Disease (MCTD) is an overlap syndrome of mild severity and good outcome. This disease consists of clinical features overlapping between Systemic Lupus erythematosus (SLE), scleroderma, rheumatoid arthritis, and polymyositis, in the presence of specific anti-RNP antib...
By Sarah Fatimah, Asad Mahmood, Nargis Sabir, Rehan Ahmad Khan Lodhi, Tahir Ghafoor
ABSTRACT Bombay phenotype is an uncommon blood type. It is found in approximately 1 in 10,000 people in the Indian subcontinent and approximately 1 in 1,000,000 in Europe. The lack of the H antigen (foundation stone of the ABO blood system) on red blood cells (RBCs) and in secretions is the hallmark...
By Saman Muhammad Amin, Alka Rani, Madiha Bilal Qureshi, Naila Kayani, Aisha Memon, Nasir Uddin
ABSTRACT Phyllodes tumour (PT) is a biphasic fibroepithelial tumour of the breast that accounts for 0.3-1% of all primary breast neoplasms. It is subdivided into benign, borderline, and malignant categories based on histologic features including stromal overgrowth, stromal hypercellularity, mitotic...
By Nazneen Liaqat, Samra Shabir, Israr Uddin, Ihtisham ul Haq, Shakir Ullah
ABSTRACT Papillary thyroid microcarcinomas (PTMCs) are subcentimetre papillary carcinomas with benign behaviour. Infiltrative follicular subtype of PTMC (IFPTMC) is considered an indolent lesion with propensity to nodal metastasis. Here, we report a case of unifocal IFPTMC with no lymphadenopathy, p...
By Hasan Huseyin Zorlu, Burcu Ozkan, Kadir Kubat
ABSTRACT Although aortoenteric fistula has been recognised for more than 50 years and has been rapidly diagnosed and treated, mortality is still very high due to some serious complications such as sepsis or massive haemorrhage. It has been traditionally classified into two groups; primary (PAEF) and...
By Wardah Saleem, Furqan Ahmed Raheel, Fayaz Iqbal
ABSTRACT A young patient presented to the emergency room (ER) with Type B aortic dissection and ascending aorta aneurysm. He was planned for medical optimization, close surveillance, echocardiography, and ascending aorta replacement on an urgent basis. His surveillance echocardiogram 2 days later re...
By Muhammad Yasir, Azhar Rehman
ABSTRACT Patients suffering from multiple sclerosis (MS) often develop neuropathic pain. Trigeminal neuralgia (TN) is the most common type in these patients. The pain is characterised by recurrent, unilateral, brief, electric shock-like episodes, abrupt in onset and termination, and limited to the d...
By Awais Abbas, Qalab Abbas, Ume-Farwah Zahidi, Danish Abdul Aziz
ABSTRACT Chronic diarrhoea causes morbidity and mortality in low-income countries in the paediatric population. There are many causes of chronic diarrhoea, including diacylglycerol o-acyltransferase 1 (DGAT1) deficiency, an enzyme deficiency, caused by the DGAT1 gene mutation, that leads to accumula...
By Serbulent Kilic, Recep Fedakar, Melih Yuksel
ABSTRACT Differentiating between benign cutaneous manifestations and lesions from inflicted injuries is not always simple. A 14-year boy was admitted to our Forensic Medicine Clinic for the preparation of a medico-legal report requested by the prosecution office. On inspection, there were 10 violace...
By Imtiaz Ahmed Qureshi, Mumtaz Ahmed Qureshi, Ali Hasham Zaki, Iqra Aslam, Mansha Hassan
ABSTRACT Trichobezoar is a rare and potentially dangerous surgical condition in which patients swallow their own hair, often as a result of trichotillomania or trichophagia. This case report focuses on a 12-year female who experienced abdominal pain, anaemia, and gastric perforation due to her menta...
ABSTRACT Intracranial malignant peripheral nerve sheath tumours (MPNST) arising from the vestibulocochlear nerve are quite rare. Due to the increasing use of stereotactic radiosurgery worldwide for benign intracranial lesions, the literature available has primarily focused on the post-radiotherapy m...
By Sarah Fatimah, Asad Mehmood, Nargis Sabir, Rehan Ahmed Khan Lodhi, Tahir Ghafoor
ABSTRACT Transfusion-associated graft versus host disease (TA-GvHD) is a rare complication of blood transfusion. It is a delayed transfusion reaction that usually presents from day 7 to day 14 following a transfusion. It can affect both immunocompromised as well as immunocompetent patients. In immun...
By Aimun Raees, Zahabia Sohail, Om Parkash
ABSTRACT Systemic Lupus Erythematosus (SLE) is a chronic inflammatory disorder with heterogeneous presentation and clinical course. We present a case of a young female with an atypical presentation of SLE. A young woman with no known prior comorbidities presented with a history of chronic diarrhoea,...
ABSTRACT Brucellosis is a common zoonotic disease in the world and in Turkiye. The disease is transmitted to humans through ingestion of unpasteurized animal milk products or direct contact with infected tissues or fluids. Brucellosis typically presents with nonspecific symptoms such as intermitten...
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