Pneumatosis Cystoides Intestinalis in Ulcerative Colitis; Histological Characteristic of the Cystic Structures
1. Abstract Pneumatosis cystoides intestinalis (PCI) is a rare disease characterized by multiple gas-filled cysts in the intestinal wall, and may be easily missed or misdiagnosed. We report here a case of 40-yearold man who was suffering from ulcerative colitis (rectal type) for 14 years. He was referred to the gastroenterology department of our hospital […]
A look back before looking ahead: Quality of A look back before looking ahead: Quality of Life (QoL) in women affected by complex vascular anomalies. Lessons learned to improve their health and well beingLife (QoL) in women affected
1. Abstract 1.1. Background: Patients with disabling complex vascular anomalies (VA) have decreased quality of life (QoL). 1.2. Objectives: To assess QoL of women with complex VA with the help of the global Well-Being Scale (QWBSA). 1.3. Method: Female adult patients from the vascular anomaly clinic of a single tertiary care center in Canada have […]
A Case Report of XLHR Caused by a PHEX Intron Variant Responsive to Burosumab: A Four-Year Follow-Up
1. Abstract 1.1. Introduction: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease characterized by renal phosphate wasting and impairment of vitamin D activation. We present a clinical case of a patient with XLHR as a consequence of an intron pathogenic variant in the PHEX gene.
STEMI in patient with anomalous single vessel coronary artery
We present a case of ST-segment myocardial infarction in a patient with anomalous single vessel coronary artery, i.e. right coronary artery originating from the left coronary artery. The patient under went successful primary percutaneous intervention of anomalies single vessel coronary artery without severe complications.
Invasive Pulmonary Aspergillosis with Spontaneous pneumothorax and systemic dissemination(Thyroid and Spleen) after receiving Tocilizumab:A case report
Invasive pulmonary aspergillosis in critical ill patients with viral pneumonia has been reported in the past and as well with Cov id-19 pneumonia. Such presentation was rarely reported in Cov id-19 patients who received Tocilizumab (IL-6, inhibitor) [1]. We are reporting an invasive pulmonary aspergillosis and spontaneous pneumothorax in a patient with severe covid pneumonia after re ceiving a single dose of Tocilizumab and who do not require me chanical ventilation.
Thymectomy in Red Cell Aplasia – a case report
1.1. Background: Pure Red Cell Aplasia (PRCA) is a very rare syndrome responsible for severe anemia due to absence or signifi cant reduction of erythroid precursors in the bone marrow. It’s eti ology is variable, ranging from a congenital disease to an acquired one. Secondary acquired PRCA may be associated with several conditions, including Thymic Tumors.
A Tale of Two Abscesses: A Case Report of Recurrent Pyogenic Liver Abscess Formation After Successful Liver Transplantation
The development of pyogenic liver abscess (PLA) after liver transplant is rare. Studies have commonly reported hepatic artery thrombosis and biliary tract pathologies as risk factors for PLA formation. Whilst other modifiable etiologies include diabetes and immunosuppression. This is a case of a 71-year-old male with a history of hepatitis B, diabetes mellitus, and hepatocellular carci noma who presented with PLA formation 14 years and 21 years after successful liver transplantation without biliary tract recon struction. Post-transplant biliary cholangiopathy and hepatic ar tery thrombosis were not present in both instances. Intravenous antibiotics and abscess drainage were performed for both PLAs with complete resolution. This case highlights the importance of early recognition of liver abscess and management of diabetes mellitus glycemic control, immunosuppressive drugs, and periop erative antibiotics prophylaxis to prevent future PLA formation in post-liver transplant patients.
Pulmonary arterial embolization of an Amplatzer™ vascular plug after patent ductus arteriosus closure in a 12-year- old patient
Currently, the primary approach for treating patent ductus arterio sus (PDA) is an alternative non-surgical strategy. Various devices are used for transcatheter closure of PDA. However, the emboli zation of these percutaneous devices is a rare yet severe complica tion. In this case, a 12-year-old girl underwent a successful attempt to close her PDA using an Amplatzer device. At the next morning echocardiography control, the device was found to be dislodged and migrated to the right pulmonary artery
Stroke-Like Migraine Attacks After Radiation Therapy [Smart] Syndrome Suspicion Means Prompt Diagnosis
1.1. Background: Stroke-like migraine attacks after radiation therapy [SMART] syndrome is a rare and delayed complication of radiation therapy to the brain. Less than 100 cases have been de scribed in literature since it was first reported in 1995. On average, presentation is about more than 20 years after radiotherapy and pa tient normally present with stroke-like deficits, epileptic seizures and migraine. MRI is characteristic for unilateral and mainly pari eto-occipital cortical hyperintensities and gyriform enhancement. The importance of characterizing this syndrome for prompt recog nition and diagnosis is essential to avoid unnecessary biopsies and provide reassurance to the patient. 1.2. Case Description: We describe a 49-years-old female treated with craniospinal radiation for a IV ventricle tumor. 29 years later she was admitted in our hospital presenting migraine-like attacks, behavioral changes, bilateral loss of vision, seizures, confusion and gait instability. 1.3. Conclusions: As the global cancer survival rates improved considerably during last decades, long-term side effects of com plementary treatment as radiotherapy are likely to be more oftenly observed. SMART syndrome represents a characterizable and a distinguishable entity which can be differentiated from tumor re currence. The knowledge and awareness of this syndrome would substantially avoid unnecessary aggressive investigations and would significantly improve patient expectation and management.
A new mutation in FGFR1 gene (p.M771I) with no pathogenic effect on hearing loss found by Whole Exome Sequencing in an Iranian family
1.1. Objectives: Hearing loss, the second most frequent sensori neural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The re ceptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger se quencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures. 1.3. Results: WES analysis showed a novel mutation in FGFR1 (NM 023110: exon18:c.G2313A:p.M771I) in the case. Her par ents’ Sanger sequencing revealed heterozygosity in her father and homozygosity of the normal allele in her mother. In silico inves tigations revealed no significant differences in pathogenic effects. 1.4. Conclusion: Altogether, our findings revealed no pathogen ic effect of the new mutation (M771I) of the FGFR1 gene in an Iranian 30-year-old woman. Because of hearing loss importance in preclinical diagnosis, this benign variant could help with the FGFR1 role on hearing loss in future pregnancies.