Pilomatrix carcinoma: 12-year experience and review of the literature.

Pilomatrix carcinoma is a rare, locally aggressive tumor with a tendency to recur. Distant metastases have been reported, with pulmonary lesions being the most frequent manifestation. Similar to pilomatrixoma, pilomatrix carcinoma typically presents as a nontender, firm dermal swelling and is found most commonly in the head and neck region. Although pilomatrixomas and pilomatrix carcinoma are well-recognized lesions, clinically they are frequently misdiagnosed as other skin conditions. By reviewing the literature over the past 10 years, the aims of this review are to analyze the cause, clinical presentation, histopathologic features, management and outcomes of pilomatrix carcinoma amongst children and adults.

An update on idiopathic intracranial hypertension.

BACKGROUND: Idiopathic intracranial hypertension (IIH) is still a grey area in the knowledge of the aetiology, diagnosis and management of neurosurgical diseases. The definition of IIH has been reviewed over time and many hypotheses have been expressed as cause of the disease. The literature supplies very little evidence-based information to guide our decision-making process when it comes to treat the disease. In this review we sum up the latest information regarding the aetiology and therapy of IIH. Additionally, we make an attempt to unify the diagnostic criteria of Dandy, Friedman and Wall established from 1937 to date. METHOD: In this narrative review, we attempt to update the current standpoint to IIH, evaluate the input until now and consider future directions for research. The vast majority of the literature consisted of cohort studies, case control studies, systematic reviews and other narrative reviews. RESULTS: Pathophysiology: The incidence of IIH is steadily increasing. Several pathophysiological theories have been proposed in the literature based on the flow of cerebrospinal fluid. DIAGNOSIS: We attempt to fuse all the three diagnostic approaches published in the literature that detect IIH, while preserving the individual characteristics of each approach. TREATMENT: Based on evidence-based trials, the current use of acetazolamide in comparison with placebo or with topiramate has been evaluated. In the interventions' field, there seems to be a consonance about the alarming symptoms and what the most suitable operation is in each case. There is some disagreement about the indications for venous sinus transversus stenting and its risk/benefit ratio. CONCLUSIONS: Until now there is no class I guideline to which our decision-making can be based on for the management of IIH. A lack of systematic reviews and randomised control trials has been noted. If we focused our research on that, we could develop a standardised treatment protocol.

Primary hyperparathyroidism: Increasing prevalence, social deprivation, and surgery.

OBJECTIVE: To measure the increasing incidence of primary hyperparathyroidism (PHPT) in Scotland, to determine the relationship between PHPT and deprivation, and to investigate the relationship between parathyroidectomy (PTX) and social deprivation. METHODS: We retrospectively identified a cohort of patients diagnosed with PHPT between 1986 and 2013 from the Scottish Morbidity Records (SMR01) database. The diagnosis of PHPT was made in accordance with the International Classification of Diseases code. RESULTS: Between the years 1986 and 2013, 4002 patients were diagnosed with PHPT. There was a significant increase in the incidence of PHPT in this period (p < 0.0001), an association between the incidence of PHPT and deprivation (p < 0.0001) plus an association between a lower rate of PTX and deprivation (p < 0.001). CONCLUSION: The increase in incidence of PHPT may be due to a combination of increased awareness of PHPT, easier diagnosis, and an ageing population. The lower rate of PTX in relation to deprivation may reflect comorbidities, age, and uncertainty about the long-term benefits of PTX in asymptomatic patients.

Severe acute pancreatitis: pathogenesis, diagnosis and surgical management.

BACKGROUND: Severe acute pancreatitis is a subtype of acute pancreatitis, associated with multiple organ failure and systemic inflammatory response syndrome. In this qualitative review we looked at the principles of pathogenesis, classification and surgical management of severe acute pancreatitis. We also looked at the current shift in paradigm in the management of severe acute pancreatitis since the guideline developed by the British Society of Gastroenterology. DATA SOURCES: Studies published between 1st January 1991 and 31st December 2015 were identified with PubMed, MEDLINE, EMBASE and Google Scholar online search engines using the following Medical Subject Headings: "acute pancreatitis, necrosis, mortality, pathogenesis, incidence" and the terms "open necrosectomy and minimally invasive necrosectomy". The National Institute of Clinical Excellence (NICE) Guidelines were also included in our study. Inclusion criteria for our clinical review included established guidelines, randomized controlled trials and non-randomized controlled trials with a follow-up duration of more than 6 weeks. RESULTS: The incidence of severe acute pancreatitis within the UK is significantly rising and pathogenetic theories are still controversial. In developed countries, the most common cause is biliary calculi. The British Society of Gastroenterology, acknowledges the Revised Atlanta criteria for prediction of severity. A newer Determinant-based system has been developed. The principle of surgical management of acute necrotizing pancreatitis requires intensive care management, identifying infection and if indicated, debridement of any infected necrotic area. The current procedures opted for include standard surgical open necrosectomy, endoscopic necrosectomy and minimally invasive necrosectomy. The current paradigm is shifting towards a step-up approach. CONCLUSIONS: Severe acute pancreatitis is still a subject of grey areas in its surgical management even though new studies have been recorded since the origin of the latest UK guidelines for management of severe acute pancreatitis.

Molecular links between endometriosis and cancer.

Endometriosis is the leading cause of morbidity among premenopausal women affecting about 1 in 10 females. The features shared by endometriosis and cancer include the ability to evade apoptosis, the stem cell-like ability and angiogenic potential. As such characteristics are encoded by the cell's genetic constitution, acquired mutations are responsible for the malignant transformation of endometriosis. Indeed, a number of tumour-suppressor genes and proto-oncogenes, such as protein 53 (P53) and B-cell lymphoma 2 (BCL-2) respectively, are mutated and as a result differentially expressed between endometriotic and malignant tissue associated with endometriosis. Moreover, cytokines and macrophages, both of which are inflammatory mediators have been implicated in the transformation process. The angiogenic properties possessed by cancer arising from endometriosis signifies a bad prognosis, while the stem cell-like activity possessed by both endometriosis and cancer has been attributed to the effect of oestrogen. A number of differences between endometriosis and cancer are found at the molecular level. Considering the link between these two pathologies, the three components which fuel the malignant transformation of endometriosis can be embodied in the endometriosis-induced carcinoma (EIC) triangle which shows the intricate relationship between endocrinologic, immunologic and genetic components.

The role of prostaglandin E2 in endometriosis.

Endometriosis is a leading cause of infertility in women of reproductive age. It involves the occurrence of endometrial tissue outside the uterine endometrium, mainly in the peritoneal cavity. Prostaglandin E(2) is up regulated in the peritoneal cavity in endometriosis and is produced by macrophages and ectopic endometrial cells. This prostaglandin is involved in the pathophysiology of the disease and elicits cell signals via four receptor types. Prostaglandin E(2) increases estrogen synthesis by up regulating steroidogenic acute regulatory protein (StAR) and aromatase. It inhibits apoptosis and up regulates fibroblast growth factor-9 (FGF-9) promoting cell proliferation. Prostaglandin E(2) affects leukocyte populations and promotes angiogenesis through its effect on estrogen and up regulation of vascular endothelial growth factor (VEGF). Dienogest is a synthetic progestin targeting expression of genes involved in prostaglandin synthesis.

Recurrence of Primary Synovial Chondromatosis (Reichel's Syndrome) in the Ankle Joint following Surgical Excision.

Primary synovial chondromatosis, or Reichel's syndrome, is a rare benign tumour arising from the synovial lining of a joint. We present the case of a 25-year-old male with Reichel's syndrome of the ankle, with subsequent recurrence following open retrieval of loose bodies. The initial presentation was of lateral malleolus discomfort which limited moderately strenuous exercise. Clinical examination showed a mild effusion and pain on extremes of movement. Imaging confirmed the presence of multiple loose bodies within the anterior and anterolateral recesses of the ankle. Open removal of 27 loose bodies from the joint was performed, with good postoperative recovery. He represented with pain 9 months later, with imaging of the ankle showing reaccumulation of loose bodies to a lesser extent. A trial of conservative management was opted for. Reichel's syndrome confined to the ankle is an exceedingly rare diagnosis, with few cases reported in the literature. This case saw the recurrence of the disease in a short time period despite successful surgery in the first instance. Management options to treat recurrence include repeat retrieval of foreign bodies, synovectomy, radiotherapy, or arthrodesis. While the prognosis is favourable, a low risk of malignant potential warrants adequate patient follow-up.

Left-Sided Bochdalek's Hernia in a Young Adult: A Case Report and Literature Review.

Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.

Two Interesting Cases of Meralgia Paraesthetica.

Meralgia paraesthetica (MP) is a condition originally described by Bernhardt in 1878 and was eventually named by Roth in 1895. It is caused by compression of the lateral femoral cutaneous nerve (LFCN) resulting in varying types of discomfort. Severity of the symptoms can range from mildly uncomfortable to painfully disabling. In this article we discuss 2 patients with a LFCN injury occurring as a result of laparoscopic ventral rectopexy (LVR). The first patient is a 46-year-old female who reported pain and dysesthesia in the left groin and the anterolateral thigh, 2 days post LCR. A conservative approach was taken and at the 6-month follow-up the symptoms had resolved. The second patient is a 51-year-old female who reported increased sensitivity to bed sheets over the anterolateral aspect of her left thigh, in the immediate post-operative period following LVR. She was similarly managed conservatively but her symptoms persisted. The LFCN arises from the dorsal branches of the second and third lumbar roots. It crosses the iliacus muscle deep to the fascia. Injury or entrapment to surrounding neural structures including the LFCN, commonly results following common laparoscopic procedures. In some cases, additional surgical intervention is required for successful management of the symptoms. In our patients, the MP syndrome was clearly related to the operation because symptoms appeared in the immediate post-operative period and were not present beforehand. LVR is a relatively new and evolving procedure with few reports of associated peri-operative complications.Key words: Meralgia paraesthetica, laparoscopy, rectopexy, lateral femoral cutaneous nerve.

Expression of different functional isoforms in haematopoiesis.

Haematopoiesis is a complex process regulated at various levels facilitating rapid responses to external factors including stress, modulation of lineage commitment and terminal differentiation of progenitors. Although the transcription program determines the RNA pool of a cell, various mRNA strands can be obtained from the same template, giving rise to multiple protein isoforms. The majority of variants and isoforms co-occur in normal haematopoietic cells or are differentially expressed at various maturity stages of progenitor maturation and cellular differentiation within the same lineage or across lineages. Genetic aberrations or specific cellular states result in the predominant expression of abnormal isoforms leading to deregulation and disease. The presence of upstream open reading frames (uORF) in 5' untranslated regions (UTRs) of a transcript, couples the utilization of start codons with the cellular status and availability of translation initiation factors (eIFs). In addition, tissue-specific and cell lineage-specific alternative promoter use, regulates several transcription factors producing transcript variants with variable 5' exons. In this review, we propose to give a detailed account of the differential isoform formation, causing haematological malignancies.