Τετάρτη 11 Ιουλίου 2018

Superficial siderosis misdiagnosed as idiopathic bilateral neurosensorial deafness

Superficial siderosis (SS) is a rare condition resulting from different sources of bleeding into the subpial space. The most common symptoms are: hypoacusia, ataxia, incontinence, dementia and parkinsonism. Since several neurodegenerative disorders may present with same clinical features, SS is often misdiagnosed. Here we present a case of SS misdiagnosed as idiopathic bilateral neurosensorial deafness.



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Multiple intestinal perforations due to blister pill pack ingestion

A 72-year-old woman with morbid obesity and history of psychosis attended the emergency room due to abdominal pain. CT scan revealed a mesenteric infiltration surrounding a thickened wall bowel agglomeration; inside, a dense 2 cm foreign body with no pneumoperitoneum or peritoneal effusion. Surgery revealed four contained bowel perforations due to a blister pill pack inside the ileum; consequently, a 30 cm bowel resection was performed. Ingestion was restarted on day 2, a superficial wound infection was evacuated on day 4 and the patient was discharged 6 days after surgery. Foreign body ingestion is relatively common in paediatric patients. Adult cases are usually related to vision problems, intellectual disability and psychiatric or cognitive disorders. Mostly, no consequences are reported, but some cases (<1%) can lead to complications such as perforations or gastrointestinal (GI) bleeding. Endoscopic extraction may be considered when placed in the upper GI tract, but surgery remains imperative if perforation is established.



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A challenging case of primary amenorrhoea

The differential diagnosis of a girl presenting with primary amenorrhoea includes numerous conditions. Often, patients of 46XY disorder of sex development (DSD) are reared as girl and present with primary amenorrhoea. Their further evaluation to reach the final diagnosis is often a great challenge. In this article, we report a challenging case of 46XY DSD presented with primary amenorrhoea. Patient had spontaneous breast development which initially confused the diagnosis to complete androgen insensitivity syndrome. However, low testosterone suggested against this possibility and further evaluation revealed hormonal findings consistent with 17α hydroxylase/17,20 lyase (CYP17A1) deficiency. Patient had 46XY karyotype and in consistence with hormonal findings patient was found to have a likely pathogenic homozygous c.1345C>T (p.Arg449Cys) variation in exon 8 of CYP17A1.



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Squamous cell carcinoma arising in hypertrophic lichen planus

Hypertrophic lichen planus (HLP) is a chronic T-cell-mediated inflammatory disease characterised by pruritic hypertrophic or verrucous plaques on the lower limbs. We report a case of an 87-year-old woman with a 12-year history of HLP on both lower legs presenting with malignant transformation of one lesion into a squamous cell carcinoma (SCC). Malignancy developing in cutaneous lichen planus is rare, with less than 50 cases reported in the literature. This case highlights the need to be aware of suspicious changes in long-standing HLP to allow early detection of a developing SCC.



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Vesicovaginal fistula and vesicocutaneous fistula in a patient having pelvic ectopic kidney with pyonephrosis: a unique therapeutic challenge

Patients with ectopic kidney require special considerations in their management due to the anatomic characteristics predisposing the kidney to obstruction and related complications. Pelvic ectopic kidneys have the added disadvantage of being confined in the bony pelvis giving less manoeuvrability during surgery of that unit. Vesicovaginal fistulas are usually managed surgically and careful surgical dissection has to be carried out because the highest success rates are usually seen at the first operation. It is rare to find a combination of such challenging diseases in a single patient. We present the case of a young woman who developed iatrogenic vesicovaginal and vesicocutaneous fistulae during an attempt to surgically manage a pyonephrotic ectopic pelvic kidney.



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Uterine artery pseudoaneurysm with an anastomotic feeding vessel requiring repeat embolisation

Uterine artery pseudoaneurysm (UAP) is a rare cause of delayed postpartum haemorrhage. Early diagnosis and endovascular management are effective in treating this condition. We present the case of a 36-year-old gravida 3, para 2 woman with delayed postpartum haemorrhage and endometritis following a spontaneous vaginal delivery. Ultrasound and catheter angiogram demonstrated a UAP arising from the distal aspect of the left uterine artery. Significant bleed persisted despite selective bilateral uterine artery embolisation. A repeat angiogram confirmed complete occlusion of bilateral uterine arteries, but abdominal aortogram demonstrated that the left ovarian artery was now feeding the pseudoaneurysm. A repeat embolisation procedure was performed to occlude the left ovarian artery. The patient was discharged the following day. Selective arterial embolisation is effective in the management of UAP. Persistent bleeding despite embolisation should raise the suspicion of anastomotic vascular supply and may require repeat embolisation.



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Visible-free cholesterol crystal emboli adjacent to microinfarcts in myocardial capillaries and arterioles on H&E-stained frozen sections of an autopsied patient

The number of released free cholesterol crystal emboli (fCCE) and their role during percutaneous coronary intervention (PCI) in acute coronary syndrome (ACS) have not been documented yet. Furthermore, fCCE manifesting in the coronary lumen following plaque rupture has been historically overlooked owing to the standard tissue preparation for light microscopy which uses ethanol as a dehydrating agent that can dissolve fCCE, leaving behind empty tissue. In this case report, we evaluated fCCE released during PCI for ACS and their relationship with myocardial injury and coronary artery obstruction on the H&E-stained sections by using polarised light microscopy. To our knowledge, there has been no mention of the visibility of fCCE on H&E-stained frozen polarised sections before.



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Metastatic Merkel-cell carcinoma: the dawn of a new era

Merkel-cell carcinoma (MCC) is a rare but aggressive cutaneous malignancy arising most often in sun-exposed Caucasians who are immunosuppressed or the elderly. Patients with metastatic disease treated with chemotherapy have a median progression-free survival of just 3 months. This report describes a 58-year-old man with a background history of psoriasis treated with immunosuppressive therapy and subsequently diagnosed with metastatic MCC. Chemotherapy produced a partial response. Then, a novel immunotherapy agent, pembrolizumab, induced a complete response maintained for at least 19 months. Quality of life was unaffected, and toxicity from immunotherapy was minimal. At the time of writing, there was no clinical or radiological evidence of recurrence and treatment is ongoing.



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Secondary spindle cell sarcoma following external beam radiotherapy for prostate cancer: a rare but devastating complication

We report a case of rapidly growing sarcoma that resulted in mortality only 6 years after radiotherapy for low-grade prostate cancer.

At the age of 69 years and a prostate-specific antigen (PSA) that had risen to 9.0 µg/L, transrectal ultrasound-guided biopsy of the prostate found a single core of Gleason 3+3 disease involving 4 mm of a 10 mm core. The patient declined active surveillance and completed 78 Gy of external beam radiotherapy over 39 fractions to a prostate volume of 46 mL.

His PSA nadir was 0.62 µg/L 1-year postradiation; however, in April 2017, his PSA began to rise satisfying the definition of biochemical recurrence. He underwent cystoscopy, biopsy favoured an undifferentiated pleomorphic sarcoma. Restaging scans (CT/bone scan) were completed showing no metastasis, and repeat MRI showed rapid growth of the lesion in 3 months.

He underwent palliative pelvic exenteration, however, 1 month later presented with large volume tumour recurrence and was subsequently palliated and died.



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Combination therapy for systemic sclerosis-associated pneumatosis intestinalis

We present a case of a patient with pneumatosis intestinalis and pneumoperitoneum secondary to gastrointestinal systemic sclerosis, who presented following recurrent accident and emergency attendances with abdominal pain. Pneumatosis intestinalis is a rare complication of systemic sclerosis; management approaches focus largely on exclusion of life-threatening surgical pathologies and subsequent symptom control. To date, there are still no established gold-standard treatment strategy and no large-scale trial data to support a specific management strategy. We describe a case of successful medical management with a combination of antimicrobial, elemental diet and high-flow inhalation oxygen therapy, with supporting evidence of CT image confirming resolution. This case therefore contributes to the literature, being the first to report both symptomatic and radiological improvement following combination therapy without the need for surgical intervention.



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Neutropaenia and splenomegaly without arthritis: think rheumatoid arthritis

Felty syndrome(FS) is an uncommon, but severe, extra-articular manifestation of rheumatoid arthritis (RA). It occurs in patients with longstanding RA. It is extremely rare for RA to present as FS or develop after initially presenting as neutropaenia and splenomegaly. We describe a case of 47-year-old woman who was diagnosed simultaneously with FS and possible RA after testing positive for anticyclic citrullinated peptide antibody, but a negative rheumatoid factor. She had an excellent response to methotrexate. We review the existing literature of such cases and emphasise the importance of serological testing for RA in patients presenting with neutropaenia and splenomegaly, even in the absence of joint symptoms or prior diagnosis of RA.



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Azathioprine-induced pancytopenia with normal TPMT activity presenting with HSV oral ulcers

A 65-year-old man with treatment-resistant psoriatic arthritis, hypertension, dyslipidaemia and benign prostatic hyperplasia (BPH) presented with herpes simplex virus (HSV) oral ulcers and a recent 15 lb weight loss due to reduced consumption. Five weeks previously, his methotrexate was tapered and he had begun taking azathioprine. The patient's thiopurine S-methyltransferase (TPMT) activity level was normal prior to starting azathioprine. He was found to have pancytopenia with normal folate levels and azathioprine was discontinued. His pancytopenia worsened, with a nadir 8 days after stopping azathioprine, before returning to normal levels. His oral ulcers improved and he was able to tolerate solid food. This case illustrates that decreased TPMT activity is not the only risk factor for pancytopenia as an adverse reaction to azathioprine. Furthermore, HSV stomatitis may be the presenting symptom of pancytopenia. The timeline of improvement in cell counts illustrated in this patient has implications for the management of suspected azathioprine-induced pancytopenia.



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Giant pituitary incidentaloma

Description 

A 78-year-old woman, independent, with medical history of hypertension, dyslipidaemia and bilateral cataract surgery. The patient underwent a head CT after a traumatic brain injury where a giant pituitary incidentaloma of 60 mm in the largest diameter was found. The patient mentioned decreased left eye acuity for the past 20 years, with no complaints of headaches or diplopia. The physical examination was unremarkable with no stigmata of endocrine disease. Anterior pituitary hormonal profile was normal. Additional MRI showed an extensive infiltrative lesion, 60x40 mm, with cavernous and sphenoidal sinus invasion, suprasellar extension and left optic nerve encapsulation (figures 1 and 2). Visual field campimetry revealed left amaurosis and right inferior temporal quadrantanopia. A nasal endoscopic biopsy was performed and the histopathology was compatible with pituitary adenoma with rare cells staining positive for adrenocorticotropic hormone and alpha subunit. Cytological atypia was absent and the Ki67 index...



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Small bowel perforation by toothpick

Toothpick ingestion is a rare but potentially fatal condition which may cause bowel perforation and rare complications if it migrates out of the gastrointestinal tract. This case report describes a delayed presentation of toothpick-induced small bowel injury leading to abdominal wall abscess and spondylodiscitis. A 51-year-old man was admitted twice with fever and loin pain, but repeated non-contrast CT was reported to be unremarkable. However, 5 months later, he presented with a left lower quadrant abdominal wall abscess and back pain. An updated CT showed a linear hyperdensity which was already present in previous scans, causing small bowel perforation, abdominal wall abscess and spondylodiscitis. Emergency laparotomy identified a toothpick causing small bowel perforation. The abdominal wall abscess was incised and drained, and small bowel was repaired.



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Acute upper gastrointestinal bleeding in a patient with malignant melanoma

Description 

The patient is a 73-year-old woman who was diagnosed with nodular melanoma of the calf almost 2 years prior to presentation. The melanoma was treated with wide-margin surgical resection (pT4b, 21 mitoses/high power field, 8 mm depth), followed by sentinel lymph node biopsy, which was negative. However, surveillance CT scan done less than a year after the original excision showed metastases to the liver, bone, lungs and adrenal glands. After oncological assessment, the patient had decided not to proceed with chemotherapy. The gastroenterology service was consulted when the patient presented with melena and significant anaemia (haemoglobin 54 g/L, haematocrit 0.17 L/L). Her haemoglobin level was normal 1 year prior (128 g/L). She also had mild renal impairment (creatinine 135 μmol/L, urea 11.4 mmol/L, glomerular filtration rate 32 mL/min/1.73 m2). She was resuscitated, including blood transfusions, and underwent urgent gastroscopy.

The gastroscopy showed multiple lesions in the fundus and body of the stomach (figure 1). The lesions were nodular with central...



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Syncope: An Atypical Presentation of Pulmonary Embolism Secondary to Occult Uterine Malignancy

All syncopal patients who present to the emergency department should be considered for pulmonary embolism (PE) as part of their differential diagnosis. PE presenting as a syncopal episode and associated with occult uterine malignancy is uncommon. Review of the literature indicates that up to 10% of patients with unprovoked venous thromboembolism (VTE) are diagnosed with cancer in the year following that first episode of VTE. In patients suspected of having a PE who do not manifest any source of an embolism require eventual workup to screen for an occult malignancy. Here, we report a 74-year-old female who presented to the emergency department following an unexplained sudden loss of consciousness and eventually was found to have a massive saddle embolus caused by a uterine malignancy-induced VTE.

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Walking hyponatremia syndrome of inappropriate antidiuretic hormone secretion secondary to carbamazepine use: a case report

Severe hyponatremia is rare when carbamazepine is used as monotherapy. It is common to encounter this imbalance in the hospital setting, but rare in the ambulatory one. Here, we present a case of hyponatremia ...

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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.

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Novel Methodologies in Regional Anesthesia for Knee Arthroplasty

Publication date: Available online 11 July 2018

Source: Anesthesiology Clinics

Author(s): Rodney A. Gabriel, Brian M. Ilfeld



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Perioperative Considerations for the Patient with Opioid Use Disorder on Buprenorphine, Methadone, or Naltrexone Maintenance Therapy

Publication date: Available online 11 July 2018

Source: Anesthesiology Clinics

Author(s): Thomas Kyle Harrison, Howard Kornfeld, Anuj Kailash Aggarwal, Anna Lembke



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Update on Selective Regional Analgesia for Hip Surgery Patients

Publication date: Available online 11 July 2018

Source: Anesthesiology Clinics

Author(s): Dario Bugada, Valentina Bellini, Luca F. Lorini, Edward R. Mariano



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Updates on Multimodal Analgesia for Orthopedic Surgery

Publication date: Available online 11 July 2018

Source: Anesthesiology Clinics

Author(s): Darsi N. Pitchon, Amir C. Dayan, Eric S. Schwenk, Jaime L. Baratta, Eugene R. Viscusi



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Updates in Enhanced Recovery Pathways for Total Knee Arthroplasty

Publication date: Available online 11 July 2018

Source: Anesthesiology Clinics

Author(s): Lisa Kumar, Amanda H. Kumar, Stuart A. Grant, Jeff Gadsden



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A rare case of percutaneous endoscopic gastrostomy causing a small bowel obstruction and subsequent bowel erosion

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Abstract
Gastrostomy tubes can be used to provide long-term nutrition and feeding when oral intake is not adequate. A rare but serious complication includes iatrogenic small bowel injury. The incidence of this is infrequent due to its position of the small bowel beneath the omentum, however, injury leading to obstruction and volvulus has been previously described in the literature. We present an unusual case of gastrostomy tube transection into omental fat causing a kink in the small bowel allowing for a transition point of obstruction and subsequent erosion of the gastrostomy tube into the small bowel.

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Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report

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Abstract
Poland syndrome is a rare congenital anomaly in which affected persons are born with missing or underdeveloped muscles on one side of the body. In this case study we present the case of a 28-year-old male with absence of all middle phalanges of the right hand and other rare anomalies, who underwent reconstruction with a new method that combines a mixture of adipose-derived mesenchymal stem cells and fat transfer. The patient's restoration of the pectoralis area was aesthetically successful with no complications and remained unchanged even after 3.5 years. The proposed method represents an interesting reconstructive approach for treating Poland's syndrome deformities.

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Repair of gastrocutaneous fistula utilizing thickened fluids: application of Poiseuille’s Law to fistula healing

Abstract
Enterocutaneous fistulas are a rare occurrence after placement of a PEG tube. The key risk factor for their development is the time the PEG tube is in situ, giving time for the fistula tract to mature. Enterocutaneous fistulae are traditionally treated with parenteral nutrition or surgical management. We present a case of a 69-year-old woman who underwent surgical closure of an enterocutaneous fistula with a fibrin plug. The fistula recurred on post-operative Day 5, and the patient was placed on thickened fluids to increase the viscosity of the fluid exiting the fistula tract. This approach decreased the output and lead to subsequent closure of the fistula by outpatient follow up at 4 weeks. This case demonstrates an application of Poiseuille's law to closure of fistula tracts.

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