A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting in a pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of PPNAD and CNC, a search for PRKAR1A mutations may be recommended in addition to hormonal and imaging tests. The purpose of this study was to investigate the clinical features, diagnosis and treatment of the new pathogenic mutations in the PRKAR1A gene causing Carney complex. Methods We report here a case of a patient whose clinical data were retrospectively analyzed. Results The 13-year-old patient was diagnosed with Carney complex through a series of tests and a new causative gene mutation locus (C.1-2942G>A) was identified. Conclusion Carney complex is usually more difficult to be diagnosed at an early stage in the clinic, and it is beneficial for clinicians to raise awareness of the disease for early recognition and timely intervention.

Rare Association Between Neuroimmunological Diseases: A Possible Autoimmune Polyglandular Syndrome Type IV

Autoimmune polyglandular syndromes (APS) are a diverse group of clinical conditions characterized by loss of immune tolerance in various tissues. This condition can be diagnosed in childhood or adulthood, with changes in the components of the disease throughout life. Here, an unusual case of association between immune-mediated diseases will be addressed: Myasthenia Gravis, Systemic Lupus Erythematosus, and Celiac Disease. In this patient, each disease was expressed over time. Finally, we assume that this is a clinical form of APS type IV, due to the lack of thyroid involvement to date.

Pure Small Cell Carcinoma of Prostate in a Patient Presenting with Acute Urinary Retention: A Rare Case Report

Small cell carcinoma of the prostate is a rare and highly aggressive subtype of prostate cancers. In this case report, we evaluated a patient applied our outpatient clinic with acute urinary retention, whose pathology reported as pure small cell carcinoma of the prostate. A 73-year-old male patient was admitted to our outpatient clinic with acute urinary retention. Digital rectal examination was normal. The PSA value was 1.81 ng/dl. Prostate size was 101 cc. Open prostatectomy was performed. The pathology of the patient was reported as pure small cell prostate carcinoma. Four cycles of etoposide and cisplatin chemotherapy were administered to the patient. The patient died 13 months later after the first diagnosis. We evaluated the pathological and clinical findings of small cell carcinoma of the prostate.

Percutaneous Intervention for Quadrifurcation Lesion of the Left Main Coronary Artery

To demonstrate that percutaneous coronary intervention (PCI) may in some cases be a safe option for patients with a high-risk surgical category, we report a complex clinical case of revascularization of multivessel coronary artery disease including left main coronary artery (LMCA) quadrifurcation. Methods For safety reasons, PCI was done in 2 separate sessions (staged PCI). Stenting of the LMCA quadrifurcation was performed using different stenting techniques in combination: modified balloon mini crush stenting technique was used - for LMCA and intermediate artery (IMA) stenting; modified balloon crush stenting technique was used for LMCA, circumflex artery (CX) and first obtuse marginal branch (OM1) stenting; provisional stenting technique was used for CX stenting, followed by sequential kissing balloon post-dilatation technique between LMCA and every branch; proximal optimization technique (POT) was performed in the LMCA. Left anterior descending artery (LAD), intermediate artery, circumflex artery, first obtuse marginal branch, left main coronary artery and its quadrifurcation were stented with 5 drug-eluting stents (DES) (Resolute Integrity, Medtronic); right coronary artery (RCA) was stented with 3 bare-metal stents (BMS) (Rebel, Boston Scientific). Results The interventions ended without complications, the ejection fraction increased from 35% to 48%, congestive heart failure functional class decreased to class I. Subsequent coronary angiography, eight months after the last PCI, revealed patent stents with mild, nonsignificant restenosis. More than three years after the intervention, the patient has no complaints (according to MACE). Conclusions It should be considered that in case of the selection of suitable patients and the use of the appropriate revascularization technique, LMCA quadrifurcation lesion can be successfully treated with PCI.

A Rare Cause of Acute Renal Failure: Retroperitoneal Fibrosis

Idiopathic retroperitoneal fibrosis also known as Ormonds disease is a rare disorder characterized by the development of fibrotic tissue in the retroperitoneum. The fibrotic tissue may compress ureters, leading to obstructive nephrouropathy and renal failure. A 58-year-old man with fatigue, loss of appetite and unable to urinate was admitted to our clinic. Because of the serum creatinine value of 5.3 mg/dl, urinary ultrasonography was performed and bilateral grade 3 hydronephrosis with moderate level urine in bladder was detected. Hydronephrosis did not regress by transurethral foley catheter and suspicious appearance in the retroperitoneal area was found in abdominal magnetic resonance imaging. Tru-cut biopsy result of the current lesion was finally reported as a connective tissue. Bilateral double j catheter insertion was performed and started to immunosuppression therapy with corticosteroid. Two months later, double j catheters were removed and hydronephrosis was not detected in follow-up. In this case report, we tried to explain that, retroperitoneal fibrosis should be considered in the differential diagnosis of postrenal acute renal failure, even in patients without a classic symptom such as pain. In addition, early surgical intervention should be avoided in such patients.

Percutaneous Intervention of Left Main Coronary Artery Chronic Total Occlusion

Chronic total occlusion (CTO) of the left main coronary artery (LMCA) is rare on the angiograms; Coronary Artery Bypass Grafting is the standard method of its revascularization. To demonstrate that PCI may in some cases be a safe option for patients with a high-risk surgical category, we report a complex clinical case of revascularization of chronic total occlusion of the LMCA, left anterior descending artery (LAD), and circumflex artery (CX). Methods Recanalization of the occluded LMCA and LAD was performed by utilizing the support-balloon technique, and CTO wires (Miracle 3™ wire, Abbott Vascular; Runthrough® NS Intermediate wire, Terumo); LAD, CX, LMCA, and its bifurcation, were stented with 3 drug-eluting stents (Resolute Integrity DES, Medtronic); the "Culotte Stenting " technique was used for bifurcation stenting, followed by "Kissing Balloon" post-dilatation technique; proximal optimization technique was performed in the LMCA. Results The intervention ended without complications. 2 months after stenting, the ejection fraction increased from 20% to 38%, improved almost all parameters of the heart, Congestive Heart Failure functional class decreased to class I. Conclusions It should be considered that LMCA CTO lesions can be successfully revascularized with PCI in case of the selection of the suitable patient and appropriate revascularization technique.

‘A perfect Example of the Strong Ion Difference: Hyperchloraemic Acidosis due to 0.9% Normal Saline Irrigation, in a Patient with a Ruptured Bladder’

An 81-year-old male presented to the Emergency Department with urinary retention, subsequent to passing blood clots. A three-way catheter was inserted for continuous bladder irrigation. 48 hours later he deteriorated, with worsening tachypnea and hypoxaemia. Clinical examination and chest x-ray suggested pulmonary odema, managed with intravenous furosemide, and non-invasive ventilation. His irrigation circuit-chart showed he had received 10 litres Normal Saline via the afferent limb, but only 3 litres recorded at the efferent limb. It was suspected the catheter was adjacent to a vascular-cystic interface, however an urgent contrast CT revealed the irrigating catheter perforating the bladder, being situated in the abdominal cavity (see 3 images). His arterial blood-gas analysis demonstrated the expected normal anion-gap academia, however his Strong Ion Difference calculations, sodium-chloride difference of 13 and a normal albumin level, perfectly demonstrated the expected calculated BE of -13. The catheter was withdrawn, and the patient made a full recovery.

Bilobed Flap in Reconstruction of Nasal Defect

Basal cell carcinoma (BCC) is the most common type of skin cancer, which arises from the basal layer of the epithelium. It is a slow growing tumor and has a low metastatic potential, it accounts for 70–80% of all cutaneous malignancies in the head face and neck region .Defects near nasal tip and ala of the nose are one of the most difficult site to cover in a single stage, bilobed flap is reported to be used very effectively to close the defect in these areas. This article reports a case of basal cell carcinoma involving the ala of the nose which was excised and the reconstruction was done using bilobed flap.

Massive Left Atrium from Severe Mitral Stenosis due to Rheumatic Heart Disease: Clinical Images Not Usually Seen in Modern Radiology and Ultrasound

Rheumatic heart disease is becoming far less common in the developed world, and therefore expsoure to its complications are been seen less by clinicians. With the increasing ease of world travel, patients with less commonly seen medical conditions are increasingly presenting to Hospitals requiring management of their complications. We present a case of an elderly lady who was a tourist in Australia, who presented with complications of her rheumatic heart disease, and her subsequent radiological and echocardiographic investigations were a significant surpirse for her treating clinicians.