Classic Triad Research Articles

A rare presentation of acute myocarditis as a manifestation of adult-onset Still’s disease: a case report

Abstract Background Adult-onset Still’s disease (AOSD) is a rare systemic autoinflammatory condition characterized by a classical triad of symptoms that include prolonged fever, polyarthritis, and a characteristic salmon-pink skin rash. It can affect a variety of organ systems resulting in many different clinical presentations and is usually a diagnosis of exclusion. Myocarditis complicated by cardiogenic shock is a rare and life-threatening manifestation of AOSD, typically affecting younger patients. There is a limited experience and evidence in how best to manage this challenging patient cohort. Case summary A previously fit and well 22-year-old male presented with fever, arthralgia, and general malaise. On clinical examination, he was pyrexial and hypotensive, requiring vasopressor support for presumed septic shock. Subsequent transthoracic echocardiography and cardiac MRI findings were in keeping with fulminant myocarditis. Further septic and auto-immune screens were negative although he responded well to high-dose intravenous corticosteroids. Attempts to wean immunosuppression were unsuccessful, and his ferritin was markedly elevated (20 233 μg/L). A diagnosis of AOSD was suspected after exclusion of other possible causes. The successful addition of tocilizumab (an interleukin-6 receptor antagonist) therapy allowed for gradual de-escalation of steroid therapy and disease remission, with on-going remission at 18 months on maintenance therapy. Discussion This case highlights the importance of considering AOSD as a rare cause for myocarditis, especially when fever is present, or disease is severe. Failure to improve with first-line therapy involving high-dose corticosteroids, or inability to wean that therapy, should prompt consideration for escalation of therapy, with tocilizumab seemingly an effective treatment option.

The value of elevated cerebrospinal fluid lactate concentrations in post-neurosurgical bacterial meningitis

Bacterial meningitis is a serious complication after neurosurgery and has a high mortality rate. Early diagnosis and timely treatment are crucial or will have disastrous consequences. The classic triad of bacterial meningitis lacks sensitivity and specificity. Therefore, the diagnosis of post-neurosurgical bacterial meningitis relies on cerebrospinal fluid. But traditional cerebrospinal fluid parameters are not completely reliable in diagnosing post-neurosurgical bacterial meningitis. Previous studies have found that CSF lactate concentration is related to bacterial meningitis. But, after the craniocerebral operation, the cerebrospinal fluid of most patients is bloody. Whether red blood cells interfere with diagnosing PNBM based on lactate concentration is limited. In the current study, we further analysis on whether red blood cells interfere with diagnosing PNBM based on lactate concentration. This study aimed to investigate the value of cerebrospinal fluid lactate concentrations in post-neurosurgical bacterial meningitis. A prospective observational study was performed on 62 patients at Kunshan First People’s Hospital’s intensive care unit affiliated with Jiangsu University. We found that erythrocytes do not affect cerebrospinal fluid lactate, and elevated lactate concentrations can be used as a marker for postoperative bacterial meningitis.

A brief history of the congenital myopathies – the myopathological perspective

Congenital myopathies are defined by early clinical onset, slow progression, hereditary nature and disease-specific myopathological lesions – however, with exceptions - demanding special techniques in regard to morphological diagnostic and research work-up. To identify an index disease in a family requires a muscle biopsy – and no congenital myopathy has ever been first described at autopsy. The nosographic history commenced when – in addition to special histopathological techniques in the earliest classical triad of central core disease, 1956, nemaline myopathy, 1963, and centronuclear myopathy, 1966/67, within a decade - electron microscopy and enzyme histochemistry were applied to unfixed frozen muscle tissue and, thus, revolutionized diagnostic and research myopathology. During the following years, the list of structure-defined congenital myopathies grew to some 40 conditions. Then, the introduction of immunohistochemistry allowed myopathological documentation of proteins and their abnormalities in individual congenital myopathies. Together with the diagnostic evolution of molecular genetics, many more congenital myopathies were described, without new disease-specific lesions or only already known ones. These were nosographically defined by individual mutations in hitherto congenital myopathies-unrelated genes. This latter development may also affect the nomenclature of congenital myopathies in that the mutant gene needs to be attached to the individually identified congenital myopathies with or without the disease-specific lesion, such as CCD-RYR1 or CM-RYR1. This principle is similar to that of the nomenclature of Congenital Disorders of Glycosylation. Retroactive molecular characterization of originally and first described congenital myopathies has only rarely been achieved.

THU235 Usefulness Of Digital Droplet Polymerase Chain Reaction (ddPCR) For Molecular Diagnosis Of McCune-Albright Syndrome In DNA From Peripheral Blood Leukocytes

Abstract Disclosure: A.G. de Faria: None. L.R. Montenegro: None. A.A. Jorge: None. R.S. Jallad: None. R.M. Martin: None. M.C. Fragoso: None. A.P. Canton: None. C.E. Seraphim: None. F.R. Tinano: None. N.C. Pinto: None. B.B. Mendonca: None. A. Latronico: None. V.N. Brito: None. Background: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of digital droplet Polymerase Chain Reaction (ddPCR) is a breakthrough technology of quantitative PCR useful for a targeted detection and quantification of rare events. Objective: This study aims to identify the GNAS mutation in peripheral blood leukocytes of patients with MAS using ddPCR. Patients and Methods: Thirty-four patients (25 female and 9 male) with typical (classic triad) or atypical (one or two features) MAS were included. DNA was extracted from peripheral blood and was analyzed through ddPCR method. Two ddPCR mutation detection assays were used, each one targeting the p.R201C or p.R201H mutations. For each assay, the Taqman PCR system was used with two fluorescence probes: the first labeled with HEX, targeting de (WT allele), and the second labeled 6-FAM, targeting the (mutated allele). The mixture (reagents + DNA) was divided into 20,000 nanodrops, which was placed on a PCR plate and amplified by PCR. After amplification by PCR, the fluorescence of each droplet was read on the 200 Droplet Digital PCR system (Bio-Rad), being classified as positive (drop containing the target sequence) or negative. Results were analyzed using Quantasoft software (Bio-Rad) to determine the total amount of positive droplets in the original sample. The results were reported in fractional abundance (FA), corresponding to the percentage of mutated alleles within the total alleles. Results: Among all patients, the most common MAS feature was osteofibrous dysplasia (OFD) (73.5%), followed by peripheral precocious puberty (PPP) (64.7%), and café-au-lait skin spots (52.9%). Acromegaly or hyperthyroidism was diagnosed in 6 and 4 patients, respectively. Classical MAS triad, 2 clinical features, or 1 clinical feature (PPP or OFD) were present in 15, 9, and 10 patients, respectively. GNAS mutations were identified in 12/34 (35.3%) MAS patients: the p.R201C in 5 and the p.R201H in 7. Among them, 8 patients presented typical MAS and 4 patients with two MAS clinical features, respectively. Considering only typical MAS group, the positive molecular test rate was 53.3% (8/15). GNAS mutations were not identified in patients with only one MAS feature. There was a positive correlation between a positive molecular test and the number of MAS clinical features (p = 0.01). Median FA was 1.45%, ranged from 0.25% to 8.4%. There was no association between FA rate and the number of MAS clinical features (p=1.0). Conclusion: ddPCR representeds a more sensitive tool for identifying GNAS mutations in peripheral blood leukocytes, even with low abundance, in patients with classical and atypical MAS. Presentation: Thursday, June 15, 2023

FRI219 Pheochromocytoma Presenting As A Case Of Worsening Diabetes Mellitus

Abstract Disclosure: J. Eapen: None. E. Sedlis Singer: None. T.X. Lu: None. J.N. Shapiro: None. Introduction: Pheochromocytoma is often diagnosed incidentally during unrelated abdominal imaging, in patients with a family history of known disease, or in patients presenting with the classic triad of symptoms: episodic headache, sweating, and tachycardia. We describe an atypical case of pheochromocytoma presenting as acute decompensation of DM. Case presentation: A 79 year old female with DM previously well-controlled on glimepiride for 4 years presented with an acute worsening of symptoms notable for abdominal fullness, weakness and weight loss. Laboratory results revealed an increase in HbA1c from 6% to 14% (nl <5.7%) since 3 months prior. Metformin and basal insulin were added to her regimen with a subsequent improvement in HbA1c. An abdominal CT scan was done given the acuity of progression in her DM, which revealed a 5.8cm adrenal mass. The patient denied easy bruising, striae, mood changes, dizziness, or hypertension. Biochemical evaluation demonstrated normal potassium level 3.7 (3.5-5.3 mmol/dL) and aldosterone 8ng/mL (<28), non-suppressed cortisol 7.8mcg/dL after dexamethasone 1mg given the night prior, but Cushing’s Disease was ruled out by normal salivary cortisol 0.08 mcg/dL (nl 0.04-0.56 mcg/dL) and urine free cortisol 22.8 mcg/ 24h (nl 4-50 mcg/24h), and further testing revealed elevated metanephrines and catecholamines during 24 hour urine collection, Epinephrine 129 mcg/24h (nl 2-24 mcg/24h), Metanephrine 7121 mcg/24h (nl 90-315 mcg/24h) and Normetanephrine 2078 mcg/ 24h (nl 122-676 mcg/24h).Repeat CT scan again showed an indeterminate 5.4 x 3.8 x 5.5 cm right adrenal mass, a 6.9mm lipid-rich left adrenal adenoma, and left adrenal gland hyperplasia. Consequently, the patient underwent laparoscopic right adrenalectomy with pathology revealing a diagnosis of pheochromocytoma. Post-op plasma fractionated metanephrines normalized and have remained normal. Immediately post-op, all diabetes medications (including insulin, glimepiride, and metformin) were stopped and she has had resolution of diabetes with HbA1c 6 on no medications when 1-year post-op. Discussion: Excess catecholamines are known to cause disruption of glucose and insulin homeostasis from desensitization of the beta-adrenergic receptor and increased insulin resistance1. Despite this, less than a handful of pheochromocytoma cases have been reported to be presenting as an acute glycemic derangement as in our patient.

FRI194 Pheochromocytoma Presenting As Catecholamine-Induced Cardiomyopathy: A Case Report

Abstract Disclosure: M. Tsikala Vafea: None. D. Lee: None. Introduction: Pheochromocytoma (PCC) is a rare catecholamine-secreting neuroendocrine tumor presenting with the classic triad of episodic headache, sweating and tachycardia. Catecholamine-induced cardiomyopathy (CICMP) can occur as a complication of PCC in 7-11% of patients. It presents more commonly as dilated cardiomyopathy and inverted Takotsubo cardiomyopathy but also as hypertrophic or unspecified cardiomyopathy. Following appropriate pharmacologic treatment and resection of PCC, these cardiac complications usually resolve. Case report: 36 year old man with history of hypertension presented to the hospital with worsening orthopnea and cough. Following antibiotic treatment failure for suspected pneumonia, he was re-admitted with hemoptysis, tachycardia, hypoxia, and hypertensive emergency. Troponin and brain natriuretic peptide were found to be elevated. CT chest and abdomen showed pulmonary nodules and a large left adrenal mass measuring 9.6x9.3x9.4 cm, concerning for metastatic PCC. He was subsequently started on doxazosin. Transthoracic echo showed bi-atrial enlargement, diffuse severe left ventricle hypokinesis, reduced ejection fraction 25% and diastolic dysfunction. Stress cardiac MRI showed non-ischemic cardiomyopathy, corroborating the diagnosis of CICMP. After achieving adequate alpha-adrenergic blockade, he was started on goal-direct medical therapy consisting of valsartan, metoprolol and empagliflozin. His pulmonary nodular opacities improved on repeat imaging, congruent with pulmonary edema rather than metastases. Plasma and 24-hour urine metanephrines (2,964 pg/mL and 23,310 mcg/24 hr, respectively) and normetanephrines (9,266 pg/mL and 33,927 mcg/24 hr, respectively), as well as dopamine (493 pg/mL), epinephrine (3,205 pg/mL) and norepinephrine (above reportable range of 4,800 pg/mL) eventually came back significantly elevated, confirming his diagnosis of PCC. A month after presentation, he underwent left adrenalectomy, which revealed an 11 cm composite PCC ganglioneuroma. One-month postoperatively, urine metanephrines and normetanephrines were normal but his ejection fraction remained unchanged. Discussion: CICMP should be considered in patients presenting with acute heart failure and an incidental adrenal mass to avoid delays in treatment. Acute pulmonary edema may resemble pulmonary nodules on CT, so interpretation of these findings should correlate with the clinical presentation. Timely initiation of alpha-adrenergic blockade upon suspicion of PCC is crucial as it can significantly improve hemodynamics, and biochemical markers take time to result. 96% of CICMP cases improve after resection of PCC within a variable time frame ranging from one week to several months. Our patient’s CICMP had not improved one month after his adrenalectomy, but it remains to be seen whether he eventually recovers his cardiac function. Presentation: Friday, June 16, 2023

Fat embolism syndrome after humerus and pelvis fracture complicated by acute kidney injury requiring blood purification: a case report and literature review

BackgroundFat embolism syndrome (FES) is a rare syndrome that typically occurs 12–72 h after long bone or pelvic fractures with a classic triad of respiratory distress, neurologic changes, and petechial rash. Although Gurd’s criteria for FES include anuria or oliguria, the mechanism of acute kidney injury (AKI) remain unknown. Here, we present a case of FES complicated by AKI that required blood purification.Case presentationA 79-year-old woman was admitted to our hospital because of a right humerus and pelvic fracture caused by a traffic accident. On the second day of hospitalization, she developed impaired consciousness, respiratory failure, and disseminated intravascular coagulation (DIC). Chest radiography revealed bilateral diffuse alveolar infiltration. Brain magnetic resonance imaging revealed diffuse high signal intensity on diffusion-weighted imaging and diffuse low signal intensity on susceptibility-weighted imaging in the cerebral and cerebellar regions. The diagnosis of FES was confirmed and the patient was treated with methylprednisolone (40 mg/day) and ulinastatin. On the third day of hospitalization, she was admitted to our department because of AKI with oliguria. Although echocardiography showed an elevated right ventricular artery systolic pressure suggestive of pulmonary hypertension (PH), pulmonary congestion was initially considered on chest imaging, and hemodialysis and rapid ultrafiltration were initiated. However, she developed hypovolemic shock and treatment was switched to continuous hemodiafiltration and slow ultrafiltration. Thereafter, her consciousness, hypoxemia, DIC and PH completely improved. She was weaned from blood purification therapy on the 29th day of hospitalization. She had hemolytic anemia that might have been caused by thrombotic microangiopathy (TMA), but it resolved without plasmapheresis. On the 51st day of hospitalization, the patient was transferred to another hospital for rehabilitation.ConclusionsFES can be complicated by AKI. In this case, DIC, which was difficult to differentiate from TMA, and/or renal congestion were considered to be a cause of AKI. Chest radiographs of FES may be indistinguishable from pulmonary congestion. In our case, chest radiography showed bilateral diffuse alveolar infiltrates which was not indicative of pulmonary congestion but pulmonary involvement of FES. FES is associated with PH, which may lead to right heart failure. Therefore, the patient could have developed hypovolemic shock due to hemodialysis and rapid ultrafiltration. Clinicians should pay attention to the hemodynamics when blood purification for FES is performed.

Anesthetic Management of Unexpected Retroperitoneal Paragonglioma: Case Report

Paragangliomas are rare tumors that arise from extra-adrenal chromaffine cells. Paraganglioma are classed as functional or non functional based on production of catecholamines, similar pheochromocytoma the clinical presentation is non- specific. We present a case perioperative anesthesic management of accidental intra-operatively diagnosed precave paragonglioma wich was confirmed as pheochromcytoma. A 48 women presented paroxysms of hypertension and adrenergic symptoms including classic triad of episodic headache, sweating, and tachycardia. Abdominal sonography detected an adrenal mass; Surgical treatment is the only radical treatment. Histological examination of the surgical specimen revealed a paraganglioma.

Comparison of Clinical Features of Intussusception in Terms of Age and Duration of Symptoms.

Intussusception is one of the most common surgical emergencies in children. We aimed to analyze the current clinical characteristics of intussusception. We retrospectively reviewed 209 children diagnosed with intussusception, who were admitted to our hospital between January 2009 and August 2022. We grouped the patients according to symptom duration (before and after 12 hours and before and after 24 hours) and age (younger and older than 1 year, and younger and older than 2 years). The median age at admission was 31 months (2-204 months). The median symptom duration was 12 hours (1-420 hours). Most patients (91.4%) were admitted due to abdominal pain, irritability, and/or vomiting. The most common symptoms were vomiting (70.8%) and abdominal pain (60.6%). The classical triad of symptoms was seen in 9 cases (4.3%). In patients aged younger than 1 year, bloody stool, abnormal abdominal radiography findings, and a longer intussusceptum segment were more frequent. In patients aged younger than 2 years, abdominal pain, fever, and defense on physical examination were less frequent, and irritability, bloody stool, and recurrence were more frequent. Patients aged younger than 2 years had a longer intussusceptum segment and less lymphadenopathy based on ultrasonography (USG). The patients admitted more than 12 hours after symptom onset had more diarrhea, fever, abnormal x-ray, peritoneal fluid on USG, and recurrences, and less vomiting. After the symptoms had lasted for 24 hours, fever, mass palpation, and abnormal abdominal radiography findings were more frequent. We recommend performing abdominal USG, especially in young children admitted to the emergency department with complaints of abdominal pain and/or vomiting, to rule out intussusception. In countries that have reported a high mortality rate from intussusception, we advise precautions such as increasing the availability of USG in emergency departments and educating the population to seek early medical assistance.

Relapse of Pheochromocytoma with Hipertensive Heart Disease Mildly Reduced Left Ventricle Ejection Fraction

Pheochromocytoma is a tumor originating from the medulla of the adrenal gland. This tumor is rare and is caused by excessive production of catecholamines. There are three classic triads of pheochromocytoma: diaphoresis, palpitations and headaches. Elevated metanephrines and normetanephrine in plasma or urine confirm the diagnosis. At the same time, radiological examination helps in the tumor's location and the presence of local invasion or metastasis. Hypertension is a health problem that is quite dangerous worldwide because it is a significant risk factor for cardiovascular diseases such as heart attack, heart failure, stroke, and kidney disease. Hypertension can cause Hypertensive Heart Disease, which is a significant cause of morbidity and mortality due to cardiovascular disease. This scientific report presents a case study of a 19-year-old woman diagnosed with relapsed pheochromocytoma and hypertensive heart disease with mildly reduced left ventricular ejection fraction. This patient was previously diagnosed at the age of 13 with pheochromocytoma, where the patient experienced symptoms of headache, sweating, especially in the forehead area, trembling hands, and hypertension. Hence, the patient had to be treated. The patient underwent further examination and found a right adrenal tumor, so an adrenalectomy was performed on the patient. Similar complaints appeared again in the patient, and further examination was carried out. Moreover, an increase in plasma metanephrine and normetanephrine levels was found. A CT scan of the abdomen revealed a right adrenal tumor, so this patient underwent another adrenalectomy.

The Ideology of Social Traditionalism (Social Tradition)

The Ideology of Social Traditionalism (Social Tradition) scientifi c manifesto off ers a modern concept of traditionalism. Today, this line is based on the principles of “double” social solidarity: both between contemporaries (horizontal solidarity) and intergenerational (vertical solidarity). The idea of the fi rst type of solidarity has historically evolved against the background of the leftist thought. The second type of solidarity dates back to classical traditionalism. It insists on placing the priority on the historical heritage, traditional values and on the rejection of historical gaps in public life. According to the author, the relevance of social traditionalism (social tradition) is growing as the crisis of neoliberal globalism deepens and currently observed deglobalization processes accelerate. The opposition of the ideas of social justice and traditional values is one of the false alternatives imposed on the society. It emerged and is still maintained within the framework of the ideology of neoliberalism, which is now in a state of decay. The article highlights the common value basis of colonialism, Nazism and neoliberal globalism. A way out of the historical impasse is possible if two conditions are met: the neoliberal ideology must be rejected and the cultural and spiritual connection with the native tradition — authentic Christianity — must be restored. After the ideological paradigm and the socioeconomic model are changed, the synthesis of socialist and traditionalist ideas can take priority in the society. The right-wing traditionalism needs to be opposed to the left-wing social traditionalism, in which the ethics of justice comes fi rst. Instead of the classic triad “conservatism—liberalism—socialism”, the society will have to develop within another political triangle: “nationalism—socialism—traditionalism”. Social traditionalism assumes the equality of nations, peoples and cultures, aff irms their incomparability, incommensurability and uniqueness. It also advocates the society governed by the social justice and supports the overcoming of painful historical gaps in the life of each people. The author proceeds on the basis that “tradition is a set of ways to preserve the historical continuity based on endowing inheritance procedures with ethical meaning”. Tradition is a method of social and cultural construction rather than a subject of restoration. The basis of the Russian (Russian-Byzantine) tradition and identity can be defi ned using the well-known formula by Max Weber as follows: “Orthodox Ethics and the Spirit of Solidarity”.

A rare case of reactive arthritis with intermittent hematuria in a young male

Reactive arthritis (ReA) is an inflammatory arthritis that manifests days to weeks after a gastrointestinal or genitourinary infection. It is also described as a classic triad of arthritis, urethritis, and conjunctivitis. Here we discuss the clinical presentation of ReA in a 20-year-old male who presented with typical triad of symptoms. But there was presence of hematuria which couldn't be explained by this single diagnosis. So further investigations where necessary to find the cause of his haematuria. A 20-year-old male student with history of childhood onset renal stone disease presented with complaints of dysuria for 3 days followed by bilateral conjunctival congestion along with pain around right hip joint, painful swelling around right ankle joint for 2 days. All examination were normal except for bilateral conjunctivitis and features of right ankle joint arthritis. His blood investigations showed neutrophilic leucocytosis with raised CRP levels. Chlamydia IgM Antibody was detected positive, which revealed the causative organism being Chlamydia Trachomatis. Urine routine showed 50-55 RBC’S and 2+ proteinuria. Hematuria was attributed to the CT evidence of renal stone and abnormal retroaortic coarse of his left renal vein described as posterior nutcracker syndrome.

Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome

BackgroundSTAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity characterized by the classic triad of eczema, frequent opportunistic infections, and elevated serum IgE levels. As a consequence of lung sequels due to repeated infections and impaired tissue healing, patients may require interventional pulmonary procedures.MethodFour patients with dominant-negative STAT3 mutations who had received interventional pulmonary procedures were enrolled. The demographic, clinical, and molecular characteristics were gathered through a medical record search. All reported STAT3-HIES patients in the literature requiring pulmonary procedures as part of their treatment were reviewed.ResultRecurrent episodes of pneumonia and lung abscess were the most prevalent symptoms. The most common non-immunological features were scoliosis, failure to thrive, and dental problems such as primary teeth retention and disseminated decays. Bronchiectasis, lung abscess, pneumatocele, and cavitary lesion were the most prevalent finding on high-resolution computed tomography at the earliest recording. All patients underwent pulmonary surgery and two of them experienced complications.ConclusionPatients with STAT3-HIES have marked pulmonary infection susceptibility which may necessitate thoracic surgeries. Since surgical procedures involve a high risk of complication, surgical options are recommended to be utilized only in cases of drug resistance or emergencies.

From low back pain to ochronosis

Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves homogentisate 1,2 dioxygenase (HGD) deficiency resulting in homogentisic acid accumulation in the connective tissues (ochronosis). The classic triad of the disease is: i) homogentisic aciduria, ii) bluish-black pigmentation in tissues such as the sclera, cornea, cartilage and skin, and iii) degenerative arthropathy usually in the fourth decade of life. Case: In this case report, we present a 41-year-old man with diffuse musculoskeletal pain and additional clinical features in tissues such as the ear and urinary tract who was diagnosed late (>30 years). He was diagnosed with alkaptonuria based on clinical findings and elevated urinary homogentisic acid levels. Conclusion: This case report underscores the need for early diagnosis of alkaptonuria, which can help in managing symptoms and improving the quality of life of patients. Further research is needed to develop more targeted therapies for alkaptonuria, which can help slow down the progression of joint degeneration and improve overall patient.

Boerhaave’s Syndrome: Better Late than Never – Delayed Management Using Endoscopic Over-the-Scope Clip

Boerhaave syndrome is spontaneous rupture of distal esophagus, caused by sharp increase intra esophageal pressure and negative intrathoracic pressure as with sudden forceful vomiting or retching. Classical Mackler clinical triad consists of vomiting, chest pain and subcutaneous emphysema. Mediastinal infection and sepsis are serious complications and can result in mortality upto 30 %, delay in treatment results in significant increase in mortality and morbidity. Early surgery is the best treatment option, surgery in elderly patients with multiple comorbid illness is challenging. Availability of full thickness closure devices using endoscopy like OTSC clips has a role in treating such group of patients. We present a elderly person who presented to us late and successfully managed endoscopically

Aspectos inmunológicos de preeclampsia

Preeclampsia is a pathology with high morbidity and mortality worldwide. In this disease, the placenta is an organ of shock where inflammation and the immune response generate the damage that results in the characteristic clinical scenario. The classic triad in preeclampsia is made up of hypertension, edema, and proteinuria, so it is thought that the endothelium must be affected by inflammatory-immunological activity. The immune system acts in the development of pregnancy and does so at different times and regulating physiologically. Both, cellular and humoral components of the innate and acquired response have been studied in patients with preeclampsia and it has been determined that their participation is decisive in the pathophysiology of this disease. The involvement of the immune system in the pathophysiology of preeclampsia reaches a high level of complexity since it interacts with other systems (coagulation, renal, cardiovascular and endocrinological among others) thus favoring the disease. For this reason, treatment must be comprehensive, with a holistic vision of the condition and requires a multidisciplinary team that acts harmoniously to achieve the greatest therapeutic success with the least frequency of sequelae for the mother-fetus or mother-newborn dyads. During pregnancy, the so-called "immunological tolerance of pregnancy" develops, in this state of immunological tolerance the B and T cells can recognize specific antigens (for example, the paternal ones) and later activate and generate the immune response, which is why preeclampsia could being considered an autoimmune pathology, where the loss of immunological tolerance would be the cornerstone of pathophysiology, knowing how to limit or regulate this abnormal cell activation could help to propose new therapeutic approaches and thus control this disease.

Treatment variability and its relationships to outcomes among patients with Wernicke's encephalopathy: A multicenter retrospective study

BackgroundDespite guidelines and recommendations, Wernicke's encephalopathy (WE) treatment lacks evidence, leading to clinical practice variability. AimsGiven the overall lack of information on thiamine use for WE treatment, we analyzed data from a large, well-characterized multicenter sample of patients with WE, examining thiamine dosages; factors associated with the use of different doses, frequencies, and routes; and the influence of differences in thiamine treatment on the outcome. MethodsThis retrospective study was conducted with data from 443 patients from 21 centers obtained from a nationwide registry of the Spanish Society of Internal Medicine (from 2000 to 2012). Discharge codes and Caine criteria were applied for WE diagnosis, and treatment-related (thiamine dosage, frequency, and route of administration) demographic, clinical, and outcome variables were analyzed. ResultsWe found marked variability in WE treatment and a low rate of high-dose intravenous thiamine administration. Seventy-eight patients out of 373 (20.9%) received > 300mg/day of thiamine as initial dose. Patients fulfilling the Caine criteria or presenting with the classic WE triad more frequently received parenteral treatment. Delayed diagnosis (after 24h hospitalization), the fulfillment of more than two Caine criteria at diagnosis, mental status alterations, and folic acid deficiency were associated significantly with the lack of complete recovery. Malnutrition, reduced consciousness, folic acid deficiency, and the lack of timely thiamine treatment were risk factors for mortality. ConclusionsOur results clearly show extreme variability in thiamine dosages and routes used in the management of WE. Measures should be implemented to ensure adherence to current guidelines and to correct potential nutritional deficits in patients with alcohol use disorders or other risk factors for WE.

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

Abstract West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation. The classical hypsarrhythmia pattern on EEG consists of a high amplitude, arrhythmic, disorganized background with multifocal spikes and slow and sharp waves. The burst suppression (BS) pattern on EEG is a less commonly described pattern in West syndrome. Among the genetic causes of West syndrome, mutations in the CACNA1A gene are rarely reported. We hereby report a BS pattern on EEG in an infant with West syndrome with heterozygous variant in the CACNA1A gene.

1043 Giant Spindle Cell Lipoma of the Perianal Region: A Rare Cause of a Perianal Mass

Abstract Background The anal and perianal region is an anatomically complex region. The differential diagnosis for perianal masses is broad and can represent both benign and malignant lesions. Case Presentation We present the case of a 63-year-old gentleman who presented to the outpatient clinic with a large perianal mass which had been present for one year. The mass was increasing in size and becoming painful. He did not report any alterations in bowel habit, per rectal bleeding or discharge. His past medical history was significant for type 2 diabetes mellitus and hypertension. He reported a 40-pack year smoking history. On examination, there was a pedunculated soft tissue mass arising from the left side of the anal area measuring approximately 12cm in diameter. MRI scan demonstrated a malignant appearing polypoid lesion originating from the left buttock region close to but separate from the internal anal sphincter. He underwent an elective examination under anaesthesia (EUA) and excision of the perianal lesion. The lesion was multilobulate and involving the external anal sphincter, it was excised en bloc via an elliptical incision. Histological assessment revealed a spindle cell lipoma. The patient had an uneventful post-operative recovery and given the histology findings no further adjuvant treatment was considered necessary. Discussion Spindle cell lipomas are rare, benign lesions characterized by a classic triad of mature adipocytes, ropey collagen, and uniform spindled cells. Surgical excision represents the first line treatment. Conclusion Perianal mass lesions can often pose diagnostic challenges and this case highlights the importance of pathological assessment.

Placental Syphilis: A Comprehensive Review of Routine Histomorphology, HIV Co-infection, Penicillin Treatment, Immunohistochemistry, and Polymerase Chain Reaction

Introduction: Placental examination is valuable for diagnosing congenital syphilis, but the classic histological triad is not always observed. This study aimed to identify additional morphological clues, evaluate the sensitivity of IHC and qPCR, and investigate the impact of HIV co-infection and penicillin treatment on placental morphology. Materials and methods: Two hundred and fifteen placental specimens with treponemal infection were reviewed. Morphological findings, IHC, and qPCR results were analyzed. Results: Chronic villitis (94%), acute chorioamnionitis (91.6%), and villous immaturity (65.6%) were the most common abnormalities. HIV co-infection and penicillin treatment were associated with reduced frequencies of inflammatory lesions. IHC and qPCR exhibited sensitivities of 74.4 and 25.8%, respectively, confirming the diagnosis in 42 cases with negative or unknown serology. Conclusion: Villitis, chorioamnionitis, and villous immaturity were identified as the predominant placental abnormalities. HIV co-infection and penicillin treatment can impact morphology and hamper the diagnosis. IHC and q-PCR are valuable adjuncts when serology is negative.