Search

Objective: To study the relationship between consumption of milk and milk products, calcium, lactose and vitamin D and occurrence of colorectal cancers. Design: Prospective cohort study. Subjects: A total of 9959 men and women aged 15 y or older without history of cancer at baseline. During a 24 y follow-up, 72 new cancers of the large bowel (38 in the colon and 34 in the rectum) were detected. Results: Consumption of milk and total milk products was suggested to be inversely related to colon cancer incidence, whereas no similar association was seen for rectal cancer. The relative risk between the highest and lowest quartiles of intake adjusted for potential confounding factors was 0.46 (95% confidence interval 0.14–1.46, P for trend 0.09) for milk and 0.37 (95% CI=0.12–1.39, P for trend 0.06) for total milk products. Lactose intake showed a similar inverse relationship with colon cancer: the relative risk was 0.31 (95% CI=0.08–1.15, P for trend 0.03). Intake of vitamin D or total dietary calcium was not significantly related to colorectal cancer risk, whereas calcium provided by fermented milk products was associated with increased colorectal cancer incidence; in the highest quartile the multivariate adjusted relative risk for colorectal cancer was 2.07 (95% CI=1.00–4.28). Conclusions: Our results indicate that individuals showing high consumption of milk have a potentially reduced risk of colon cancer; however, the association does not appear to be due to intake of calcium, vitamin D, or to specific effects of fermented milk. Sponsorship: This study was supported by a grant from the Swedish Cancer Foundation. European Journal of Clinical Nutrition (2001) 55, 1000–1007

Thrombocytopenia is, after anemia, the most frequent hematological problem among sick neonates. In this population, thrombocytopenia has traditionally been defined as a platelet count 9 /L, and has been classified as mild (100–150 × 10 9 /L), moderate (50–99 × 10 9 /L), and severe ( 9 /L). However, large population-based studies have shown that platelet counts increase with advancing gestational age, and platelet counts between 100 and 150 × 10 9 /L are more frequent among otherwise healthy extremely preterm infants than among full term neonates or older children. This suggests that different definitions of thrombocytopenia and thrombocytosis should be applied to preterm infants. The diagnostic approach to a thrombocytopenic neonate is facilitated if the thrombocytopenia is categorized as “early onset” (within the first 72 hours of life, usually secondary to congenital or intrauterine abnormalities) or “late onset” (after 72 hours, usually due to acquired conditions). Importantly, infection/sepsis should always be considered near the top of the differential diagnosis, as any delay in diagnosis and treatment can have life-threatening consequences. While in vitro studies have clearly shown that neonatal platelets are hyporesponsive to most agonists, this platelet hyporeactivity is well compensated by factors in neonatal blood that increase clotting (i.e. high hematocrit, high VWF concentrations), resulting in adequate primary hemostasis. The risk of bleeding in thrombocytopenic neonates is poorly predicted by the platelet count; gestational age

• Infants born with ambiguous genitalia or nonpalpable testes need to be evaluated for congenital adrenal hyperplasia as it can be life threatening. • Adrenal steroid levels vary with gestational age. • Adrenal insufficiency should be treated with hydrocortisone to avoid adrenal crisis. High doses of hydrocortisone contain mineralocorticoid activity.

OBJECTIVE: To evaluate whether pathologic complete response (pCR) exclusively defines major pathologic response to treatment with improved survival. SUMMARY BACKGROUND DATA: pCR following trimodality therapy for esophagogastric adenocarcinoma is infrequent but associated with improved prognosis. Yet most clinical trials and correlative studies designate pCR as the primary endpoint. METHODS: We analyzed our prospectively maintained database for patients who underwent trimodality therapy for locally advanced esophageal adenocarcinoma between 1995 and 2017. Overall survival (OS) was examined by percentage treatment response (TR) in the primary tumor bed and pathologic nodal stage (ypN0) using Kaplan-Meier plots. Optimal thresholds of TR for differentiating patients in terms of OS were investigated with descriptive plots using restricted cubic spline functions; associations were quantified using Cox multivariable analysis. RESULTS: Among 788 patients, median follow-up was 37.5 months (range, 0.4–210.6); median OS was 48.3 months (95% CI, 42.2–58.8). Absence of residual nodal disease was independently associated with improved survival (P

Background: The optimal vasopressor management for septic patients with left ventricular (LV) dysfunction has not been well established, and current evidence is conflicting regarding the optimal vasopressor discontinuation order. Objective: The objective was to evaluate the impact of LV dysfunction on the hemodynamic management of septic shock by assessing the incidence of clinically significant hypotension after vasopressor discontinuation. Methods: In this single-center, retrospective cohort study, adult patients were included if they met the Sepsis-3 definition of septic shock, had LV dysfunction (defined as an ejection fraction ≤40%), and received norepinephrine and vasopressin as the last vasopressors discontinued. The primary outcome was the incidence of clinically significant hypotension following discontinuation of vasopressin or norepinephrine. Clinically significant hypotension was defined as a MAP less than 60 mmHg and the need for either: 1) the reinstitution of the previously discontinued agent at any dosage, 2) the receipt of at least 500 mL of a crystalloid at a rate of at least 500 mL/hour, 3) or the receipt of at least 25 grams of albumin 5% at a rate of at least 25 gram/hour. Secondary outcomes included intensive care unit (ICU) and hospital lengths of stay, and ICU and hospital mortality. Results: A total of 78 patients met inclusion criteria, with 37 patients having vasopressin discontinued first and 41 having norepinephrine discontinued first. Clinically significant hypotension occurred in 28 patients (76%) following the discontinuation of vasopressin, compared to 28 patients (81%) following the discontinuation of norepinephrine (p = 0.61). ICU length of stay was 9 days in the vasopressin discontinued first cohort, compared to 15 days in the norepinephrine discontinued first cohort (p = 0.01). There was no statistically significant difference in mortality observed. Conclusion: The discontinuation order of norepinephrine and vasopressin did not impact the incidence of clinically significant hypotension in patients with septic shock and LV dysfunction, but may influence ICU length of stay, although other factors may have impacted this finding.

Background: Beta blockers, mainly propranalol, are usually administered to control heart rate in patients with thyrotoxicosis, especially when congestive heart failure presents. However, when thyrotoxicosis is not controlled, heart rate may be difficult to control even with maximal doses of propranolol. This presentation alerts physicians to the possibility of using ivabradine, a selective inhibitor of the sinoatrial pacemaker, for the control of heart rate. Case presentation: We present a 37-year-old woman with thyrotoxicosis and congestive heart failure whose heart rate was not controlled with a maximal dose of beta blockers during a thyroid storm. The addition of ivabradine, a selective inhibitor of the sinoatrial pacemaker, controlled her heart rate within 48 hours. Conclusion: Ivabradine should be considered in patients with thyrotoxicosis, including those with heart failure, in whom beta blockers are insufficient to control heart rate

Findley first proposed the presence of age-related dysfunction of the hypothalamic-neurohypophyseal-renal axis more than 60 years ago. More sophisticated studies have since corroborated his findings. As a result, it is now clear that multiple abnormalities in water homeostasis occur commonly with aging, and that the elderly are uniquely susceptible to disorders of body volume and osmolality. This article summarizes the distinct points along the hypothalamic-neurohypophyseal-renal axis where these changes have been characterized, as well as the clinical significance of these changes, with special attention to effects on cognition, gait instability, osteoporosis, fractures, and morbidity and mortality.

PurposeStudies on the association between peripheral neuropathy (PN) and patient-reported outcomes have mostly overlooked sleep quality. Therefore, we aimed to assess the association between PN and sleep quality in a population-based sample of colorectal cancer (CRC) patients up two years after diagnosis. MethodsAll newly diagnosed CRC patients from four Dutch hospitals were eligible for participation. Patients (N=340) completed questionnaires about PN (EORTC QLQ-CIPN20) and sleep (PSQI) before initial treatment (baseline) and one and two years after diagnosis. ResultsPatients who developed sensory PN (n=76) or motor PN (n=79) after treatment more often reported poor sleeping scores (PSQI>5) compared with those who did not develop SPN or MPN at 1-year (SPN: 38% vs. 261%, MPN: 37% vs. 14%) and 2-year follow-up (SPN: 38 vs. 23%, MPN: 37% vs. 18%) (all pConclusionsBoth SPN and MPN were significantly associated with the course of sleep quality among CRC patients up to two years after diagnosis. Clinicians should be encouraged to discuss sleep quality with their patients who either report PN or are at risk of developing PN. Implications for survivors: Improving sleep quality among survivors with PN is important, either by reducing PN symptoms, or directly targeting sleep

Takotsubo cardiomyopathy is characterised by left ventricular apical ballooning, in the absence of coronary artery disease, and classically occurs at times of intense stress. Due to the striking preponderance of Takotsubo cardiomyopathy occurring in postmenopausal women, it has been postulated that female sex hormones may also be implicated in its pathogenesis. This case report describes the first case of Takotsubo cardiomyopathy associated with the initiation of dydrogesterone (a synthetic retroprogesterone) in a premenopausal woman.

A 50-year-old woman was referred to rheumatology for new onset polyarthralgia and headache. She had a history of metastatic lung adenocarcinoma and was started on treatment with the programmed death 1 receptor (PD-1) antagonist pembrolizumab 2 months prior. Examination revealed left temporal artery tenderness and hand synovitis. Investigations revealed enlarged temporal artery on ultrasound imaging. On steroid treatment, she had resolution of symptoms, but due to significant steroid side effects required methotrexate and her PD-1 antagonist therapy was continued in consultation with her oncologist. Her malignant disease has remained stable, and she has improved functional status.

This is a case of a young woman who developed neurological and psychiatric symptoms 3 days after resection of an immature teratoma. She was diagnosed with anti-NMDA receptor encephalitis via positive serum antibody titres, which was later confirmed with cerebrospinal fluid antibody titres. Given her cancer diagnosis, she underwent treatment with bleomycin, etoposide and cisplatin chemotherapy in addition to 5 days of high-dose steroids (1 g of intravenous methylprednisolone) for the encephalitis. This treatment regimen led to significant clinical improvement 3 weeks after completion of one cycle of chemotherapy.

A 4-week-old boy presented to the hospital with symptoms of diarrhoea and vomiting initially thought to be due to cow’s milk allergy. He was discharged with extensively hydrolysed formula. The patient represented with worsening of symptoms with metabolic acidosis and was screened and treated for sepsis. However, his condition deteriorated further and he developed methaemoglobinaemia. He was transferred to the high dependency unit and was given two doses of methylene blue. Further investigations were carried out, including rapid trio exome sequencing, which identified a homozygous pathogenic Peptidase D (PEPD) variant (c.978G>A, p.(Trp326*)). This was consistent with a diagnosis of prolidase deficiency.

Ex vivo normothermic perfusion (EVNP) is increasingly recognised as a viability tool to increase organ utilisation in deceased donor transplantation. We report the use of EVNP to assess graft perfusion quality following indication nephrectomy and back-bench arterial reconstruction in a case of renal artery stenosis, unamenable to endovascular treatment. Once explanted, it was not possible to effectively cold perfuse the graft through the main renal artery or collaterals. An arterial reconstruction was performed with patch angioplasty using the largest collateral creating a single common stem. EVNP was used to assess organ perfusion and, therefore, viability. Excellent global perfusion was evident alongside urine production, demonstrating that the arterial reconstruction was satisfactory. A patient with end-stage renal disease was consented with particular attention to the uncertainty of the underlying donor disease process and long-term outcome of the reconstruction. Primary function was achieved and recipient estimated glomerular filtration rate (eGFR) remains stable at 58 mL/min/1.73 m² at 6 months.

Inhaled antibiotics are commonly used to treat persistent airway infection with Pseudomonas aeruginosa that contributes to lung damage in people with cystic fibrosis. Current guidelines recommend inhaled tobramycin for individuals with cystic fibrosis and persistent Pseudomonas aeruginosa infection who are aged six years or older. The aim is to reduce bacterial load in the lungs so as to reduce inflammation and deterioration of lung function. This is an update of a previously published review.To evaluate the effects of long-term inhaled antibiotic therapy in people with cystic fibrosis on clinical outcomes (lung function, frequency of exacerbations and nutrition), quality of life and adverse events (including drug-sensitivity reactions and survival).We searched the Cochrane Cystic Fibrosis Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched ongoing trials registries. Date of last search: 28 June 2022.We selected trials where people with cystic fibrosis received inhaled anti-pseudomonal antibiotic treatment for at least three months, treatment allocation was randomised or quasi-randomised, and there was a control group (either placebo, no placebo or another inhaled antibiotic).Two authors independently selected trials, judged the risk of bias, extracted data from these trials and judged the certainty of the evidence using the GRADE system.The searches identified 410 citations to 125 trials; 18 trials (3042 participants aged between five and 45 years) met the inclusion criteria. Limited data were available for meta-analyses due to the variability of trial design and reporting of results. A total of 11 trials (1130 participants) compared an inhaled antibiotic to placebo or usual treatment for a duration between three and 33 months. Five trials (1255 participants) compared different antibiotics, two trials (585 participants) compared different regimens of tobramycin and one trial (90 participants) compared intermittent tobramycin with continuous tobramycin alternating with aztreonam. One trial (18 participants) compared an antibiotic to placebo and also to a different antibiotic and so fell into both groups. The most commonly studied antibiotic was tobramycin which was studied in 12 trials. Inhaled antibiotics compared to placebo We found that inhaled antibiotics may improve lung function measured in a variety of ways (4 trials, 814 participants). Compared to placebo, inhaled antibiotics may also reduce the frequency of exacerbations (risk ratio (RR) 0.66, 95% confidence interval (CI) 0.47 to 0.93; 3 trials, 946 participants; low-certainty evidence). Inhaled antibiotics may lead to fewer days off school or work (quality of life measure) (mean difference (MD) -5.30 days, 95% CI -8.59 to -2.01; 1 trial, 245 participants; low-certainty evidence). There were insufficient data for us to be able to report an effect on nutritional outcomes and there was no effect on survival. There was no effect on antibiotic resistance seen in the two trials that were included in meta-analyses. We are uncertain of the effect of the intervention on adverse events (very low-certainty evidence), but tinnitus and voice alteration were the only events occurring more often in the inhaled antibiotics group. The overall certainty of evidence was deemed to be low for most outcomes due to risk of bias within the trials and imprecision due to low event rates. Different antibiotics or regimens compared Of the eight trials comparing different inhaled antibiotics or different antibiotic regimens, there was only one trial for each unique comparison. We found no differences between groups for any outcomes except for the following. Aztreonam lysine for inhalation probably improved forced expiratory volume at one second (FEVsub1/sub) % predicted compared to tobramycin (MD -3.40%, 95% CI -6.63 to -0.17; 1 trial, 273 participants; moderate-certainty evidence). However, the method of defining the endpoint was different to the remaining trials and the participants were exposed to tobramycin for a long period making interpretation of the results problematic. We found no differences in any measure of lung function in the remaining comparisons. Trials measured pulmonary exacerbations in different ways and showed no differences between groups except for aztreonam lysine probably leading to fewer people needing treatment with additional antibiotics than with tobramycin (RR 0.66, 95% CI 0.51 to 0.86; 1 trial, 273 participants; moderate-certainty evidence); and there were fewer hospitalisations due to respiratory exacerbations with levofloxacin compared to tobramycin (RR 0.62, 95% CI 0.40 to 0.98; 1 trial, 282 participants; high-certainty evidence). Important treatment-related adverse events were not very common across comparisons, but were reported less often in the tobramycin group compared to both aztreonam lysine and colistimethate. We found the certainty of evidence for these comparisons to be directly related to the risk of bias within the individual trials and varied from low to high.Long-term treatment with inhaled anti-pseudomonal antibiotics probably improves lung function and reduces exacerbation rates, but pooled estimates of the level of benefit were very limited. The best evidence available is for inhaled tobramycin. More evidence from trials measuring similar outcomes in the same way is needed to determine a better measure of benefit. Longer-term trials are needed to look at the effect of inhaled antibiotics on quality of life, survival and nutritional outcomes.

Acute oesophageal necrosis, black oesophagus (BE) or Gurvits syndrome (GS) is a rare form of severe oesophagitis appearing as a striking circumferential discolouration of distal mucosa with various proximal extensions abruptly terminating at the gastro-oesophageal junction. It is most commonly associated with acute exacerbations of medical comorbidities, while associations with altered gut anatomy are rare. We present a unique constellation of BE, Cameron ulcers (CU), and gastric volvulus from a large paraesophageal hiatal hernia. Our patient recently recovered from COVID-19 and was malnourished and frail, while the expanding paraesophageal hiatal hernia turned into an acute organoaxial gastric volvulus with accompanying outlet obstruction. In low-flow post-COVID coagulopathic states, compensatory mechanisms may lack against gastric stunning and sudden massive reflux on the oesophagus. We additionally performed a systematic review and discovered additional cases with coexistent volvulus and paraesophageal hernia, although there are no previous reports of BE with CU, which makes this study the first.

A 28-year-old woman presented with complaints of breathlessness on exertion NYHA class II and palpitations for the past 2 years. On examination she had irregularly irregular pulse and mid-diastolic murmur at the apex. An ECG revealed atrial fibrillation with controlled ventricular rate. Her

Various bowel preparation agents have been developed for effective and safe bowel cleansing before colonoscopy. Polyethylene glycol (PEG) is widely used in the elderly. A 2 L PEG solution with ascorbic acid (PEG-Asc) was developed to reduce the volume of standard 4 L PEG. Several cases of

A 34-year-old woman, a known case of valvular heart disease, post balloon pulmonary valvuloplasty done 8 years ago during her first pregnancy, presented with progressive exertional breathlessness with New York Heart Association class III symptoms in her third trimester of pregnancy. On examination, she had features of right heart failure. ECG showed right axis deviation, right ventricular hypertrophy with strain pattern. Transthoracic echocardiography showed severe pulmonary valve stenosis, right ventricular hypertrophy, right ventricular and atrial dilatation with reduced right ventricular function. As the patient was symptomatic, she underwent percutaneous balloon pulmonary valvuloplasty. The procedure was successful with a significant reduction in the pulmonary valve gradient and the patient was discharged in stable condition with reduced symptoms. The timely intervention of the valvular stenotic lesion in pregnancy reduces the mortality risk to both the mother and the fetus.

Few cases of programmed death-ligand 1 inhibitor-induced scleroderma have been reported and their clinical features remain unpublished. Optimal management is, therefore, unknown and an autoantibody association has yet to be identified. We present the case of a female in her 60s who developed skin thickening after starting atezolizumab for metastatic non-small cell lung cancer. Skin biopsy 7 months after symptom onset showed histological changes consistent with scleroderma. Anti-PM/SCL-75 antibody was positive. Atezolizumab was discontinued and treatment was started with mycophenolate mofetil. After 5 months, she experienced mild improvement in skin thickening. Earlier identification of this complication may limit morbidity in this disease process, which otherwise has limited treatment options. In suspected cases, obtaining scleroderma-associated autoantibodies may help with earlier diagnosis.

Immunotherapy with BCG is an effective and widely used treatment for non-muscle-invasive bladder cancer. BCG sepsis is a rare but life-threatening and frequently not a straightforward complication of this treatment; in cases with a high index of suspicion, anti-bacillary treatment should not wait for laboratory confirmation and be instituted immediately. We report a severe case of BCG sepsis, in which timely diagnosis and initiation of antituberculosis agents enabled a full recovery.

Liver involvement in Graves’ disease can be seen as a part of autoimmune process or rarely, due to the direct effects of thyrotoxicosis on liver. Hyperthyroidism can also have gastrointestinal manifestations like frequent bowel movements, diarrhoea, even malabsorption with steatorrhoea. We report a 36-year-old man with hyperthyroidism, presenting with cholestatic jaundice and persistent small bowel diarrhoea. He was diagnosed to have Graves’ disease and after ruling out more common causes, the cause of cholestatic jaundice was supposed to be Graves’ disease. Considering this possibility, the patient was started on treatment with carbimazole. As patient’s thyroid function tests started improving, he showed significant clinical and biochemical improvement from liver point of view as well.

Background Traditional dogma regarding management of rheumatoid arthritis (RA) patients with trigger digit symptoms holds that A1 pulley release should be avoided. Surgical release was thought to further destabilize the metacarpophalangeal joint. Biologic disease modifying anti-rheumatic drugs (DMARDs) have limited the development of hand deformities. Despite advances in RA treatment, many textbooks continue to discourage release of the A1 pulley in RA patients. The aim of this study was to determine if this belief is consistent with current trends in surgical management of trigger digits in patients with RA. Methods Active Members of the American Society for Surgery of the Hand (ASSH) were surveyed on their training and current practices as related to RA patients with trigger digits. Results Five hundred three surveys were completed (16% response rate). During training, 55% of ASSH Members were taught to avoid releasing the A1 pulley in RA patients. Seventy-one percent of respondents currently release the A1 pulley in RA patients with no preexisting deformities, no tenosynovial thickening, or if tenosynovectomy and flexor digitorum superficialis slip excision fail to relieve triggering. Forty percent reported that their practice has evolved toward more frequent release of the A1 pulley in RA patients. Conclusion The majority of ASSH Active Members were taught during training to avoid surgical release of the A1 pulley in RA patients to prevent acceleration of finger deformities. Indications and contraindications for A1 pulley release are evolving along with the improved natural history of RA associated with the use of biologic DMARDs.

Tamoxifen exposure is a recognised risk for primary endometrial cancer. This case serves as a reminder to meticulously check the past medical history and inform patients of the risk-benefit of treatment as part of a shared-decision making process.

Background The mismanagement of missing data in large clinical databases may lead to inaccurate findings. The purpose of this study was to demonstrate the effects of missing data on hand surgery research findings using an analysis of postoperative morbidity in patients undergoing hospital-based hand surgery. Methods The National Surgical Quality Improvement Program database was queried for patients undergoing common hand and upper extremity surgery between 2011 and 2016. Major and minor postoperative complications were identified. Demographics, comorbidity, and preoperative laboratory values were identified, and the percentage missing of each was tabulated. To demonstrate how missing data can alter analysis results, these variables were evaluated for an association with major complications using multivariable regression on 3 separate cohorts: (1) all patients; (2) all patients after exclusion of any patient entry with >10% of missing data; and (3) after removal of any patient entry with any missing data. Results Groups 1, 2, and 3 had 48 370, 23 118, and 6280 patients, respectively. There were 14 variables associated with increased odds of major complications in group 1, yet only 10 and 9 variables for groups 2 and 3, respectively. Six variables were associated with increased major complications across all 3 groups, whereas only 1 was associated with decreased odds of major complications across all groups. Conclusions Filtering patient cohorts according to the amount of missing patient information affected analyses of predictors for major complications associated with hospital-based hand surgery. These findings highlight the importance of considering and addressing missing data in large database studies.

Background Vitamin D deficiency is now recognized as an independent risk factor and is involved in the pathogenesis of carpal tunnel syndrome (CTS). The purpose of this study was to evaluate the effects of vitamin D3 supplementation on functional and symptomatic outcomes in CTS patients with vitamin D deficiency. Methods This was a prospective, single-arm study with a pretreatment or posttreatment quasi-experimental design. Carpal tunnel syndrome patients with vitamin D deficiency were treated with vitamin D3 (60 000 IU/week) plus standard treatment for a period of 3 months. Carpal tunnel syndrome–related pain and functional and symptomatic outcomes were assessed at baseline and at 3 months posttreatment using the Visual Analogue Scale (VAS) and the Boston Carpal Tunnel Questionnaire, respectively, along with serum vitamin D. Results A total of 42 patients were analyzed. At 3 months posttreatment, there was a significant reduction in the severity of pain (VAS score) from baseline ( Z = −5.71, P < .001). Similarly, the functional and symptomatic outcomes (Boston symptoms severity scale [SSS] and Boston functional status scale [FSS] score) at 3 months posttreatment significantly improved in comparison with baseline (Boston SSS: Z = −5.66, P < .001; Boston FSS: Z = −5.68, P < .001). Conclusions Vitamin D3 supplementation was associated with improvement in functional and symptomatic outcomes and CTS-related pain in CTS with vitamin deficiency. However, further robust randomized controlled trials are warranted to validate the results.

A 63-year-old man with hypertension was referred for catheter ablation of persistent atrial fibrillation. He was diagnosed with paroxysmal atrial fibrillation approximately 6 years prior. Over the previous 12 months, his atrial fibrillation had become persistent despite medication optimisation for rate control and elective cardioversion. Sinus rhythm was restored briefly. The decision was made to pursue catheter ablation and isolation of the pulmonary veins. On anaesthetic induction, the patient suffered from a hypertensive crisis. The procedure was aborted, and the patient was admitted to hospital for investigations of secondary hypertension. Ultimately, the patient was diagnosed with bilateral pheochromocytomas. This case outlines the diagnostic challenges and cardiac comorbidities associated with bilateral pheochromocytomas.

Granulomatosis with polyangiitis (GPA) is a rare disorder characterised by inflammation of small-sized and medium-sized blood vessels that result in damage to various organ systems, but it most commonly affects the respiratory tract and kidneys. It is one of the few entities that can present with ocular inflammation as well as renal impairment at the same time. We describe a case of a 38-year-old man with conjunctivitis, episcleritis, anterior uveitis as a first manifestation of GPA. His presentation with red eye and anterior uveitis prompted further workup, which revealed acute renal failure (creatinine 442 mmol/L), elevated inflammatory markers (erythrocyte sedimentation rate of 85 mmol/hour and C reactive protein of 72 mg/L), and a c-antineutrophil cytoplasmic antibody titre >8. An urgent renal biopsy was performed demonstrating necrotising crescentic glomerulonephritis, which led to the final diagnosis of GPA. Treatment induction with intravenous methylprednisolone and plasmapheresis followed by an oral prednisone taper and intravenous rituximab infusions leading to resolution of all symptoms and normalisation of kidney function. This report highlights conditions that can present with both ocular inflammation and renal dysfunction with a focus on GPA and its ocular manifestations.

A 42-year-old man who had suffered from severe fatigue for 5 years was diagnosed as having chronic fatigue syndrome (CFS) and fibromyalgia. Endocrinological workup using combined anterior pituitary function tests showed that the patient had adrenocorticotropin hormone (ACTH) deficiency, with a normal pituitary MRI. Treatment with a physiologic dose of oral hydrocortisone replacement physically ameliorated his general fatigue. A secondary workup using a growth hormone-releasing peptide-2 test revealed that he also had growth hormone (GH) deficiency, and GH replacement therapy was started. His muscle pain and depression were improved by the therapy. Here, we present a rare case of combined deficiency of ACTH and GH in a middle-aged man with severe general fatigue. This case report aims to raise awareness of combined deficiency of ACTH and GH as a differential diagnosis of CFS and its mimics.

Inherited thrombophilic disorders are well‐established predisposing factors for venous thromboembolism, but their role in arterial ischaemic stroke is uncertain. The exact mechanism of arterial thrombosis in thrombophilias remains elusive. Herein, we report a case of a 30-year-old woman who was admitted to our facility with sudden-onset right-sided ptosis and ophthalmoplegia. Detailed clinical features, neuroimaging and laboratory evaluation clinched the diagnosis of ischaemic stroke in midbrain due to microvascular obstruction associated with isolated protein S deficiency. She was treated with oral anticoagulant (warfarin) and physiotherapy; without any improvement of her symptoms at 2 months of follow-up. A high index of clinical suspicion is needed in any case of young ischaemic stroke in absence of common cardiac and vascular risk factors, to recognise the presence of inherited thrombophilia.

A 49-year-old man presented to our emergency department with dyspnoea and fluid overload. He denied any chest pain. Comorbidities included non-dilated ischaemic cardiomyopathy and bipolar affective disorder. An admission ECG demonstrated sinus rhythm with left bundle branch block (QRS duration=126

A 70-year-old woman who had been taking oral steroids with tapering after an acute exacerbation of idiopathic pulmonary fibrosis (IPF) was diagnosed with stage IIIB squamous cell lung cancer by transbronchial lung biopsy from left hilum 6 months before admission. At the time, she had anorexia due to

A 31-year-old Caucasian woman underwent a standard workup as a potential kidney transplant donor. Kidney donor protocol CT showed a left para-aortic hypervascular mass suspicious for a paraganglioma. Biochemical workup revealed elevated urinary catecholamines, supporting this suspicion. The patient underwent surgical resection with histopathological evaluation that confirmed the diagnosis. Endocrine evaluation 2 years later revealed a family history of a cousin with a history of pheochromocytoma as a teenager. A genetic panel identified a missense mutation in succinate dehydrogenase C (c.202T>C; p.Ser68Pro), which was described as a variant of unknown significance. In silico analysis suggested that it may be a deleterious mutation. We concluded that this mutation may be pathogenic, considering these supporting pieces of evidence and her early-onset paraganglioma. This report highlights the importance of genetic screening in patients with paragangliomas/pheochromocytomas, since many cases are familial. Additionally, it underscores the importance of evaluating and documenting cases of variants of unknown significance.

Pacing-induced cardiomyopathy (PICM) consists of heart failure (HF) associated with a drop in the left ventricular ejection fraction (LVEF) in the setting of high-burden right ventricular pacing, with presentation that may range from subclinical to severe. Time to manifestation can go from weeks to years after device implantation. Treatment typically consists in an upgrade to a cardiac resynchronisation therapy (CRT) or His bundle pacing (HisP). Several risk factors for PICM have been described and should be considered before pacemaker (PM) implantation, as thorough patient selection for de novo CRT or HisP, may preclude its manifestation. We present the case of an 82-year-old patient presenting with acute congestive HF and new severely reduced LVEF, 30 days following dual chamber PM implantation for high-grade atrioventricular block. Treatment with HF medication and upgrade to a CRT permitted rapid resolution of the symptoms and normalisation of the LVEF at 1-month follow-up.

Induction of remission in biologic-experienced individuals with moderate to severe Crohn’s disease (CD) can be a challenge. We hereby present a case of CD with secondary non-response to infliximab. Adding methotrexate and switching to ustekinumab plus methotrexate did not stop the inflammatory process. Therefore, combination therapy with two classes of biologics consisting of ustekinumab and adalimumab plus methotrexate was initiated. He achieved clinical remission in 4 weeks and remained on triple therapy for 6 months which was subsequently tailored to adalimumab/methotrexate combination therapy due to insurance restriction on ustekinumab. He remained in remission for the duration of follow-up, 14 months after initiation of triple therapy and 8 months after switching to methotrexate/adalimumab biologic monotherapy. Triple therapy with anti-TNF, IL-12/23 inhibitor and methotrexate could potentially be an option for induction of remission in biologic-experienced individuals with good initial clinical response to anti-TNF agents.

A primary intraventricular haemorrhage (PIVH) usually presents with non-localised neurological symptoms since the haematoma is limited to the ventricles. However, it is sometimes associated with focal neurological signs, whose pathophysiologies are not confirmed. Here, we report on a case of PIVH who showed rare manifestations in the acute stage: upward gaze palsy and convergence insufficiency. The CT and MRI showed intraventricular haematoma without evidence of parenchymal haemorrhage, local mass effect around midbrain or hydrocephalus. There had been bilateral papilloedema, and it resolved along with improvement of the ophthalmic symptoms, suggesting a possible causal relation to increased intracranial pressure. The ophthalmic abnormalities suggested injury of the rostral part of the midbrain, especially the region around the dorsal midbrain tectum. It should be known that PIVH is one of the causes of acutely developing upward gaze palsy and convergence insufficiency.

A 49-year-old man with a structurally normal heart presented to the emergency department with pyelonephritis secondary to extended spectrum beta lactamase Escherichia coli , resulting in both septic shock and an acute kidney injury. He had a background history of a renal transplant for adult

Pericardial effusion secondary to isolated severe iron-deficiency anaemia is an extremely rare condition. We present a case with severe anaemia presented with moderate pericardial effusion. Pericardial effusion completely resolved with correction of anaemia.

Background Percutaneous transluminal angioplasty and stenting in acute stroke due to severe basilar artery stenosis or basilar artery occlusion remain a matter of debate. The higher risk of stroke recurrence in patients with vertebrobasilar stenosis compared to anterior circulation atherosclerotic disease creates high expectations concerning endovascular approaches. This study aims to review our experience with percutaneous transluminal angioplasty and stenting in acute stroke caused by basilar artery steno-occlusive disease. Methods Our prospective database from June 2014 until December 2020 was screened and patients with acutely symptomatic severe (>80%) basilar artery stenosis or acute basilar artery occlusion who underwent percutaneous transluminal angioplasty and stenting were analysed. Results Twenty-five patients included: 72% men (mean age 68.6 years), all with prior modified Rankin Scale Conclusions Percutaneous transluminal angioplasty and stenting showed to be a technically feasible and reasonably safe procedure in selected patients. However, good clinical outcomes may be difficult to achieve as only 43.5% of the patients remained independent at 3 months. Randomized studies are needed to confirm the efficacy and safety outcomes of percutaneous transluminal angioplasty and stenting in acute stroke caused by basilar artery steno-occlusive disease.

Background A considerable proportion of stroke patients have unfavorable outcomes despite substantial reperfusion during mechanical thrombectomy for large vessel occlusion. This study aimed to determine predictors of unfavorable outcomes despite substantial reperfusion (modified thrombolysis in cerebral infarction score of ≥2b). Methods We conducted a post hoc analysis of Analysis of Revascularization in Ischemic Stroke With EmboTrap, a prospective, multicenter study on the efficacy of the EmboTrap revascularization device. We included patients with anterior large vessel occlusion, substantial reperfusion within three passes, and 3-month follow-up. Univariate and multivariate logistic regression analyses were performed to determine independent predictors of dependency or death (modified Rankin Score 3–6) at 90 days. Results Of the 176 patients included in the study, 124 (70.45%) achieved modified Rankin Score of 0–2 at 90 days and 52 (29.6%) had modified Rankin Score of 3–6. On univariate analysis, patient age and initial National Institutes of Health Stroke Scale score were significantly higher in the modified Rankin Score of 3–6 groups (71.4 ± 11.3 years vs. 66.0 ± 13.1 years, 0.01; 18.9 ± 4.13 vs. 14.6 ± 4.36, p Conclusion More severe initial neurologic deficit and higher number of passes in patients with substantial reperfusion were independent predictors of dependency or death. These findings highlight a reduction in the number of passes required to achieve reperfusion as a therapeutic target to improve the outcome after thrombectomy.

Among people who inject drugs (PWID), 60% have HCV and 50-90% of HIV-infected PWID are co-infected with HCV. Data comparing adherence to direct-acting antiviral (DAA) therapy among HCV mono-infected and HIV/HCV co-infected PWID is limited. The impact of HCV treatment initiation on HIV antiretroviral therapy (ART) adherence is also poorly understood. We assessed DAA adherence in HCV mono-infected and HIV/HCV co-infected PWID and examined changes in ART adherence and HIV outcomes following HCV treatment. Study was conducted in three Medication for Opioid use Disorder (MOUD) programs in Bronx, New York. HCV treatment adherence was measured using electronic blister packs. 2-week DAA adherence rates were compared and controlled for study arm, psychiatric illness and alcohol intoxication within the past 30 days. ART adherence was measured using participant self-report and dichotomized to "excellent" or "other". ART adherence, CD4 count, and HIV viral load were identified six months prior to, during, and six months after HCV treatment. Statistical significance was assessed with mixed-effects regression linear or logistic models. Overall DAA adherence rates among HCV mono-infected and HIV/HCV co-infected PWID were 74% (95% CI=71-78%) and 76% (95%CI=70-83%), respectively (p=.55). There were no significant changes in ART adherence, CD4 counts, or HIV viral loads prior to, during, or after HCV treatment. This is the first study assessing the impact of DAA therapy on ART adherence and HIV treatment outcomes among PWID. It is one of the first to compare DAA adherence among HCV and HIV/HCV co-infected PWID. Our data demonstrate no significant difference in DAA adherence and no significant impact of HCV treatment on ART adherence or HIV outcomes.

Hepatitis C virus (HCV) infection is common among people living with HIV. HIV and HCV coinfected patients have higher overall mortality rates compared with HIV mono-infected patients. With its high cure rate of HCV infection, direct-acting antiviral (DAA) treatment provides an opportunity to improve the survival of the HIV/HCV coinfected population. The objective of this study is to investigate the association between DAA treatment and all-cause mortality among HIV/HCV coinfected people. The study included 7103 Medicare beneficiaries in the United States who were infected with both HIV and HCV between 2014 and 2017. Cox proportional hazards regression model was used to estimate adjusted hazard ratios (aHRs) of death for patients with and without DAA treatment while controlling for patient characteristics. During the study period, 1675 patients initiated DAA treatment (23.6%). The adjusted hazard ratio (aHR) of all-cause mortality between patients with and without DAA treatment was 0.37 (95% CI, 0.29-0.48), regardless of cirrhosis status. DAA treatment was associated with a smaller reduction in all-cause mortality for females (aHR, 0.50 [95% CI, 0.30-0.85]) compared with males (aHR, 0.34 [95% CI, 0.25-0.46]). DAA treatment was associated with improved survival among all HIV/HCV coinfected patients regardless of sex or HCV disease progression.

We present the case of a 35-year-old Asiatic man, with no medical relevant history, who debuted in October 2018 with nocturnal cough and orthopnoea. He was diagnosed by transthoracic echocardiogram of severe acute aortic regurgitation due to aortic root dilatation, with normal left and right

The advent of immunotherapy has revolutionised the treatment of metastatic lung cancer and it has recently been established as the standard of care in the radical treatment of lung cancer. However, immune-related adverse events (IrAEs) frequently occur in patients treated with immunotherapy, and rare IrAEs continue to be identified. We report a case of immunotherapy-induced coeliac disease due to adjuvant durvalumab post-chemoradiotherapy in a patient receiving curative treatment for lung cancer. The patient had raised anti-tissue transglutaminase IgA and histological findings consistent with coeliac disease. This is the first published case report of probable immunotherapy-induced coeliac disease both with the immunotherapy drug durvalumab and in the curative lung cancer setting.

Essential thrombocythaemia (ET) is a myeloproliferative neoplasm where there is a clonal proliferation of thrombocytes. Whilst most often diagnosed incidentally, it can uncommonly present with arterial thrombosis. This is a case presentation of a 36-year-old male who was diagnosed with ET following myocardial infarction caused by multiple thrombotic emboli. The patient was initially misdiagnosed with viral myopericarditis based on an atypical history of chest pain with a viral prodrome. Reattendance a month later with further chest pain, dynamically raised troponin and ECG changes raised suspicions of ACS. Analysis of blood markers from both admissions showed consistently elevated platelet counts. A CMR scan revealed focal ischaemic scars in multiple cardiac segments consistent with an acute coronary event or coronary embolisation. A subsequent coronary angiography demonstrated minimal coronary artery disease. JAK2 gene V617F mutation was detected, confirming ET. The patient was commenced on pegylated interferon-alpha and dual antiplatelet therapy, and discharged with follow-up.

Hepatopulmonary syndrome (HPS) is a serious complication of chronic liver disease, characterised by portal hypertension and arterial hypoxaemia due to intrapulmonary vascular dilatation. We report an unusual case in which a 27-year-old man had a first presentation of portal hypertension and cirrhosis complicated by HPS. This patient presented with progressive dyspnoea on exertion and deterioration in mobility, with a type 1 respiratory failure and increased oxygen demand. A bubble echocardiogram showed a possible right-to-left shunt, CT aortogram displayed evidence of portal hypertension and cirrhosis, and liver biopsy findings were consistent with alpha-1 antitrypsin deficiency. The patient’s increased oxygen demand was subsequently treated with continuous positive airway pressure before he was discharged with 8 L home oxygen. With no current established medical therapy for HPS, the patient was assessed for liver transplantation and a decision was made in favour of this.

We report the case of a 27-year-old female patient from sub-Saharan Africa who presented with non-specific abdominal complaints, iron deficiency anaemia and multiple, large intra-abdominal cystic lesions on imaging. The lesions appeared to be a most unusual presentation of gastrointestinal stromal tumour (GIST). GIST is a sarcomatous tumour that comprises only 0.2% of all gastrointestinal (GI) tumours; it is the most common mesenchymal malignancy of the GI tract. Our patient had the succinate dehydrogenase-deficient (SDHD) subtype, identified in some 5%–10% of patients with GIST only, commonly found in women and younger patients. The differential diagnosis of intra-abdominal cystic lesions is briefly discussed, including the relevance of a correct pathological diagnosis. This impacts medical and surgical management decisions, including predicting response to targeted therapy. Tyrosine kinase inhibitor therapy has been a breakthrough in the treatment of GISTs, although with extensive disease, and certainly in case of the SDHD subtype, long-term outcome remains disappointing.

A 23-year-old woman, with 6-week-old intrauterine gestation, presented with severe diffuse abdominal pain of 3 days duration which was intermittent and crampy in nature associated with generalised weakness of all limbs. There was no history of bleeding per-vagina, fever, rashes, diarrhoea

A 48-year-old man presented to the emergency department (ED) with exertional chest pressure associated with palpitations and lightheadedness. He was found to have non-sustained ventricular tachycardia (NSVT) in the ED, which resolved spontaneously. Given his history of hyperlipidaemia, unknown family history due to being adopted and episode of NSVT in the ED, he underwent cardiac catheterisation, which showed non-obstructive coronary artery disease and distal left anterior descending artery myocardial bridge (MB). The patient subsequently underwent ECG treadmill stress test with reproduction of chest pressure and NSVT. The patient was referred to cardiac surgery for definitive management of symptomatic MB and underwent resection of MB.