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This paper presents the case of a male dialysis patient, with generalised epilepsy, who experienced complications after starting medium cut-off (MCO) dialysis. While receiving haemodiafiltration, the patient’s epilepsy had been relatively well controlled using two antiseizure medications (brivaracetam and sodium valproate). However, the patient’s seizure frequency increased when he was changed to MCO dialysis. MCO is a new dialysis method that has been developed to allow for better clearance of uraemic toxins through its larger pore size. We hypothesise that using the highly permeable MCO membrane changed the seizure threshold by an unknown mechanism. This is the first reported case to observe increased seizure frequency in a patient receiving MCO dialysis. The case highlights the need for caution when prescribing dialysis methods to patients with epilepsy.

Neonicotinoid is a new class of systemic insecticides that are selectively toxic to insects. However, cases of human toxicity have been reported. A man in his 60s, who worked as a pest control operator (which required the use of thiamethoxam), presented with fever and headache. We investigated the levels of thiamethoxam and clothianidin in the blood and urine. Our results suggested that chronic thiamethoxam intoxication was caused by occupational inhalation exposure and environmental pollution. After cessation of insecticide use, the patient remained asymptomatic but had persistent oral dysesthesia and postural finger tremor, even at undetectable levels of thiamethoxam and clothianidin. This case report is the first to describe human thiamethoxam intoxication after occupational inhalation exposure. When similar symptoms are encountered and a history of insecticide use is confirmed, clinicians should consider the diagnosis of neonicotinoid intoxication.

A man in his 60s presented with a subacute paracentral scotoma and preserved visual acuity in the left eye. He was found to have a very subtle area of deep retinal whitening at the macula and multiple retinal cholesterol emboli. Optical coherence tomography (OCT) with En face imaging revealed globular paracentral acute middle maculopathy (PAMM). A diagnosis of PAMM associated with branch artery occlusion was made and the patient was immediately transferred to the nearest stroke centre. Investigations revealed severe carotid occlusive disease for which the patient underwent carotid endarterectomy. Paracentral scotomas in patients with little clinical findings on fundus examination should raise the suspicion for PAMM, which is easily identifiable on OCT. Eye care professionals must recognise PAMM as a possible sign of acute retinal arterial ischaemia—an ocular and systemic emergency that requires immediate referral to specialised stroke centres.

A male patient in his 20s presented with a cough and a small volume of haemoptysis that lasted a year. He had no other constitutional symptoms and a respiratory examination was suggestive of a consolidation. A chronic infection, such as tuberculosis, was suspected. The routine evaluation showed peripheral eosinophilia with raised serum total IgE. Sputum examination for tuberculosis was negative; hence, a high-resolution CT of the thorax was performed, which revealed bilateral bronchiectasis with high-attenuation mucus plugging. The imaging and blood profiles were in favour of allergic bronchopulmonary aspergillosis, but there was no history suggestive of asthma, and the pulmonary function test was normal. The patient underwent a skin prick test and an allergen-specific IgE test forAspergillus fumigatus, and both were positive. His bronchoalveolar lavage cultures also grewA. fumigatus, and he responded well to antifungal therapy. This case illustrates the presentation of a rare entity—allergic bronchopulmonary aspergillosis sans asthma.

Sarcoidosis is an immune-mediated inflammatory disorder with unknown aetiology that is marked by non-caseating granulomas in affected organs. Pulmonary sarcoidosis is the most common manifestation, but gastrointestinal involvement, particularly in the small bowel, is exceedingly rare. While symptom-driven treatment guidelines that are steroid based are well established for pulmonary and few extrapulmonary manifestations (ie, cardiac, neurologic, renal), gastrointestinal sarcoidosis treatment is largely extrapolation with optimal management under investigation. Additionally, few works document small bowel obstruction related to small bowel sarcoidosis. We present a case of short-interval recurrent small bowel obstruction in a man in his sixties that revealed newly diagnosed sarcoidosis with suspected small bowel involvement who never underwent steroid therapy. The patient exhibited gastrointestinal symptoms, despite asymptomatic pulmonary disease and a course of prednisone may have reduced his risk of recurrence. We also review suggested gastrointestinal sarcoidosis treatment and surveillance guidelines with focus on the small bowel.

A male infant presented with swelling of the left leg and fever. Over the next 2 days, the area developed fasciitis extending to the left thigh, abdomen, and lower chest. Meanwhile, the parents found a giant brown spider within the infant’s cot belonging to the genusLoxosceles, otherwise called the brown recluse spider. The dermo-myonecrosis progressed to deeper tissues involving the lung parenchyma requiring invasive ventilation. CT of the thorax showed multiple pneumatoceles, and lung biopsy showed alveolar necrosis. The infant was treated with intravenous antibiotics and corticosteroids. We drained the pneumothoraces by thoracostomy and insertion of intercostal drainage tubes. The infant required respiratory support initially by conventional ventilation, which was escalated to high-frequency oscillatory ventilation. He had refractory hypoxaemia and died. This is the first fatal case of acute spider envenomation described in India. Spider envenomation must be considered in patients with sudden onset, rapidly progressive necrotising fasciitis unresponsive to antibiotic therapy.

Ankylosing spondylosis (AS) is characterised by bilateral sacroiliitis, asymmetric peripheral oligoarthritis, association with the human leucocyte antigen-B27, enthesitis and dactylitis. The association of IgA vasculitis with AS has been documented in few case reports. We present a rare case of a man in his 40s with AS, who presented with fever, bloody loose stools, abdominal pain, lower limb arthritis, palpable purpura over the lower limbs. He subsequently, also developed renal involvement in the form of proteinuria. His skin biopsy showed evidence of leucocytoclastic vasculitis, while renal biopsy showed focal proliferative, necrotising IgA glomerulonephritis. He was thus diagnosed to have Henoch Schonlein purpura with IgA nephropathy in the background of AS. He was treated with steroids and mycophenolate mofetil with resolution of his symptoms.

In this paper, we report the case of a man in his 30s with a first-episode psychosis, characterised by a subtype of delusional misidentification syndrome in which the delusion of doubles is exclusively of the patient’s own self. This subdivision can be termed ‘syndrome of doubles of the self’ or ‘syndrome of subjective doubles’. Additionally, an examination of the patient’s mental state showed paranoid delusions. After being evaluated in the emergency department, the patient was hospitalised, and medicated with antipsychotic drugs. One week later, he was discharged with total remission of psychotic symptoms. This is a rare and curious presentation of a psychotic episode, with very few similar cases described to date.

We present a case of a male neonate with refractory and persistent neonatal hypoglycaemia not responding to octreotide. On evaluation for hypoglycaemia, his cortisol was within the reference range while the serum insulin concentrations were high. Gallium-68 dotatate scan (GA-68 DOTA) showed diffuse pancreatic involvement. Genetic diagnosis of congenital hyperinsulinaemic hypoglycaemia due to

Autoimmune glial fibrillar acidic protein (GFAP) astrocytopathy typically presents as acute or subacute meningoencephalitis with or without myelitis. We describe a case of autoimmune GFAP astrocytopathy that mimicked tuberculous meningitis. A man in his 70s was referred to our hospital with lethargy persistent for 2 months, appetite loss for 1 month and fever with headache for 10 days. The cerebrospinal fluid test revealed lymphocytic pleocytosis with elevated adenosine deaminase (ADA). Laboratory investigations ruled out microbial and neoplastic causes. Empirical therapy for tuberculous meningitis combined with corticosteroid improved the patient’s condition. Culture forMycobacterium tuberculosisfailed to show microbial growth despite 1 month of incubation. The cerebrospinal fluid was examined for GFAP antibody and returned positive result. Antituberculous agents were discontinued, and corticosteroid was administered until patient’s symptoms resolved completely. Thus, clinicians should consider autoimmune GFAP astrocytopathy as one of the differential diagnoses of lymphocytic meningitis with elevated ADA.

After interdisciplinary consent, a male patient in his 50s received endovascular treatment of an innocent supraophthalmic aneurysm of the internal carotid artery with a WEB (woven endo bridge) device and stenting. In the medical history, a migraine with aura was reported. A week after intervention, the patient developed an ipsilateral cluster-like headache responsive to classical interventions. Inflammation of the carotid wall near the stent was demonstrated to be associated with the headaches and was responsive to steroid treatment.The presented case demonstrates that postinterventional headache comprises more headache entities than the often reported migraine and tension-type headache with a considerable impact on the patients’ quality of life. The case supports the vascular hypothesis of cluster headache pathophysiology, potentially contradicting current models and assumptions.

An immunocompetent man in his 20s presented with a 24-hour history of severe odynophagia, nausea, vomiting and throat pain. Esophagogastroduodenoscopy (EGD) revealed severe esophagitis with ulcerated mucosa, exudative debris, haemorrhage and multiple erosions. Biopsy of the oesophageal tissue demonstrated marginated chromatin, multinucleated giant cells and molding of nuclei, consistent with herpes simplex virus esophagitis (HSE). Treatment with oral acyclovir led to the complete resolution of symptoms. The patient subsequently developed dysphagia again, 8 months later. EGD showed furrowing and concentric rings typical of eosinophilic esophagitis (EoE), a diagnosis confirmed by biopsy. Treatment with a proton pump inhibitor and swallowed topical corticosteroids led to symptomatic improvement. Thus, HSE can occur in immunocompetent hosts and on occasion, HSE may be a harbinger of EoE, as evidenced by our extensive literature review. Mechanical disruption of the mucosal barrier by viruses, facilitating food allergen penetration, and associated immunological signaling abnormalities may be responsible phenomena requiring further elucidation.

A male patient presented with a sudden visual decline in the right eye (OD). Fundus revealed bilateral vasculitis; OD also showed an occluded inferior retinal vein and a wedge-shaped retinal opacification of the inferior macula and nasal retina. Fluorescein angiography revealed occlusive retinal vasculitis, while optical coherence tomography showed paracentral acute middle maculopathy (PAMM) in the OD. A thorough systemic evaluation revealed hyperhomocysteinemia and a positive Mantoux test. A diagnosis of PAMM with occlusive retinal vasculitis in presumed intraocular tuberculosis and hyperhomocysteinemia was made. Retinal vasculitis improved with oral corticosteroid, intravitreal anti-vascular endothelial growth factor and laser photocoagulation. However, the patient declined antitubercular therapy despite recommendations. This unique report indicates that PAMM may complicate tubercular retinal vasculitis, especially in the presence of systemic hypercoagulable states.

Haematospermia, even though alarming, is usually benign and self-limiting, especially in a sexually active male. Nevertheless recurrent, refractory or painful haematospermia is troublesome and warrants thorough evaluation. In this context, we describe a rare case of recurrent haematospermia whereby evaluation revealed haemorrhage in seminal vesicle cysts and consequently established the aetiology of autosomal dominant polycystic kidney disease.

Hyperammonaemia syndrome secondary to

A man in his 80s was admitted via the acute medical take after presenting with increased confusion and features of alcohol withdrawal. He had a several-month history of a worsening pruritic rash surrounding his neck, arms and legs in addition to new, profuse diarrhoea. In view of the background of known chronic alcoholism and the coexisting symptoms of rash, confusion and diarrhoea, pellagra was diagnosed via a multidisciplinary approach. Oral nicotinamide supplementation was commenced and his symptoms responded rapidly. The bias and challenge of reaching a unified diagnosis in the context of a multisystem condition are exemplified in this case report.

A male in his 70s presented with a chronic malunited comminuted Galeazzi fracture dislocation, including angular malunion, radial shortening (1.3 cm ulnar-plus variance) and distal radioulnar joint (DRUJ) instability secondary to chronic dislocation with mechanical rotation block. A modified, single-stage radius corrective osteotomy with bone grafting technique to overcorrect radius length was employed, restoring normal DRUJ motion and stability by engaging the secondary DRUJ stabilisers without triangular fibrocartilage complex repair. DRUJ stability was restored via radius lengthening, engaging the DRUJ’s secondary stabilisers, bypassing the need for complex ligamentous reconstruction. The patient returned to full activity. We recommend our simple yet effective approach to treat chronic, malunited Galeazzi fractures with DRUJ instability.

A man in his 40s was referred with persistent hypophosphataemia and bony pain. A serum fibroblast growth factor 23 level was markedly elevated and a diagnosis of tumour-induced osteomalacia was considered. Whole body imaging revealed multiple insufficiency fractures but no osseus tumours. There was, however, a durally-based intracranial lesion whose imaging characteristics were consistent with a meningioma. The tumour was removed, leading to rapid normalisation of the patient’s symptoms and serum markers. Histology confirmed a phosphaturic mesenchymal tumour. We review the literature regarding this rare clinical situation.

Across vertebrate species, gonadal hormones coordinate physiology with behavior to facilitate social interactions essential for reproduction and survival. In adulthood, these hormones activate neural circuits that regulate behaviors presenting differently in females and males, such as parenting and territorial aggression. Yet long before sex-typical behaviors emerge at puberty, transient hormone production during sensitive periods of neurodevelopment establish the circuits upon which adult hormones act. How transitory waves of early-life hormone signaling exert lasting effects on the brain remains a central question. Here we discuss how perinatal estradiol signaling organizes cellular and molecular sex differences in the rodent brain. We review classic anatomic studies revealing sex differences in cell number, volume, and neuronal projections, and consider how single-cell sequencing methods enable distinction between sex-biased cell-type abundance and gene expression. Finally, we highlight the recent discovery of a gene regulatory program activated by estrogen receptor α (ERα) following the perinatal hormone surge. A subset of this program displays sustained sex-biased gene expression and chromatin accessibility throughout the postnatal sensitive period, demonstrating a bona fide epigenetic mechanism. We propose that ERα-expressing neurons throughout the social behavior network use similar gene regulatory programs to coordinate brain sexual differentiation.

A man in his late 60s with prior Hartman’s procedure underwent colostomy takedown and complex ventral hernia repair. He subsequently developed gastrointestinal (GI) bleeding from a duodenal bulb ulcer. Despite five endoscopic procedures aimed at achieving haemostasis, including placement of an over-the-scope clip, and four endovascular embolisations (inferior and superior pancreaticoduodenal, right gastroepiploic and gastroduodenal arteries), the patient continued to experience episodic, haemodynamically significant bleeding. He eventually required emergency exploratory laparotomy, where the proper hepatic artery was identified as the source (a previously unreported phenomenon). He underwent antrectomy and proper hepatic artery ligation. This case highlights the need to interrogate all portions of the hepatic vasculature in the treatment of refractory GI bleeding.

Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with signs of hypertensive encephalopathy. Physical examination showed arcus cornealis, planar xanthomas and tuberous xanthomas. After appropriate investigations, a direct aetiology of the hypertension could not be elucidated; however, our patient’s hypertension resolved with the reduction in serum lipid levels. β-hydroxy β-methylglutaryl coenzyme A reductase and cholesterol absorption inhibitors were administered as first-line treatment. A significant proportion of patients with HoFH continue to have elevated LDL-C levels, thereby requiring second-line agents, such as proprotein convertase subtilisin/kexin type inhibitors (evolocumab), microsomal triglyceride transfer protein inhibitors (lomitapide) and angiopoietin-like protein inhibitors (evinacumab). This case report aimed to raise awareness among paediatricians to consider HoFH as a possible aetiology in a child presenting with hypertension and suggestive physical findings.

A male in his 70s presented to the emergency department with sudden-onset abdominal pain and syncope. While in the emergency department, he developed worsening hypotension and anaemia. A CT angiogram was suggestive of abdominal apoplexy (spontaneous intraperitoneal haemorrhage), which was treated successfully with embolisation of the bleeding vessels. Spontaneous bleeding was thought to be related to his initiation of apixaban 1 week previously. The patient made an excellent recovery and was transitioned back to oral anticoagulation.

Pleomorphic adenoma is the most common benign salivary gland tumour of the head and neck region, most commonly seen in parotid glands. These may arise also from minor salivary glands of the upper aerodigestive tract comprises the upper lip, cheek, floor of the mouth and rarely from mucoserous glands in the nasal cavity and paranasal sinuses. A middle-aged man, who had undergone surgery for a nasal mass 14 years ago, presented with headache and visual complaints from a recurrent mass originating from the sphenoid sinus. Isolated sphenoid sinus space-occupying lesions have always been a diagnostic challenge. The mass was biopsied and diagnosed as pleomorphic adenoma on histopathology, and then excised endoscopically. Early and accurate diagnosis on a biopsy may result in complete excision of the tumour and prevent recurrence. The endoscopic route is preferred for surgical excision and the patient should be followed up clinically and radiologically to detect early recurrence.

A man in his 20s presented with a 2-week history of fever, fatigue and diarrhoea. On arrival to the emergency department, he had clinical findings of sepsis. The care team initially suspected sepsis secondary to bacterial colitis and administered antibiotics. Further workup including a stool PCR assay for gastrointestinal pathogens failed to establish a diagnosis, and he had no evidence of immune compromise. Colonoscopy revealed mucosal ulceration presumed to be ulcerative colitis. Histopathology obtained after discharge revealed severe colitis with cytomegalovirus (CMV) inclusions. Serological studies indicated a primary CMV infection. To our knowledge, this is the first report of a primary CMV infection presenting as severe colitis and systemic disease in a young immunocompetent patient without underlying disease.

Objectives. To compare survival by gender and race among transgender and cisgender people enrolled in private insurance in the United States between 2011 and 2019. Methods. We examined Optum’s Clinformatics Data Mart Database. We identified transgender enrollees using claims related to gender-affirming care. Our analytic sample included those we identified as transgender and a 10% random sample of cisgender enrollees. We limited our sample to those 18 years or older who were non-Hispanic Black or White. We identified 18 033 transgender and more than 4 million cisgender enrollees. We fit Kaplan–Meier survival curves and calculated standardized mortality ratios while adjusting for census region. Results. Black transfeminine and nonbinary people assigned male sex at birth were 2.73 times more likely to die than other Black transgender people and 2.38 and 3.34 times more likely than Black cisgender men and women, respectively; similar results were found when White transfeminine and nonbinary people assigned male sex at birth were compared with White cisgender cohorts. Conclusions. Our findings highlight glaring inequities in mortality risks among Black transfeminine and nonbinary people assigned male sex at birth and underscore the need to monitor mortality risks in transgender populations and address the social conditions that increase these risks. (Am J Public Health. 2022;112(10):1507–1514. https://doi.org/10.2105/AJPH.2022.306963 )

Mast cells are critical innate immune effectors located throughout the body that are crucial for host defense mechanisms via orchestrating immune responses to a variety of host and environmental stimuli necessary for survival. The role of mast cells in brain development and behavior, meningeal function, and stress-related disorders has also been increasingly recognized. While critical for survival and development, excessive mast cell activation has been linked with an increasing number of inflammatory, stress-associated, and neuroimmune disorders including allergy/anaphylaxis, autoimmune diseases, migraine headache, and chronic pain disorders. Further, a strong sex bias exists for mast cell-associated diseases with females often at increased risk. Here we review sex differences in human mast cell-associated diseases and animal models, and the underlying biological mechanisms driving these sex differences, which include adult gonadal sex hormones as well the emerging organizational role of perinatal gonadal hormones on mast cell activity and development.

A quadragenarian male presented with gradual protrusion of the left eyeball for 7–8 months’ duration. On examination, the best corrected visual acuity in the right eye was 20/20, while in the left eye there was no light perception. Contrast-enhanced CT scan revealed a well-defined fat-density mass in the extraconal compartment of the left superior orbit, causing inferolateral globe dystopia with resultant stretching of the optic nerve. Provisionally, orbital dermoid or lipoma was considered in the differential diagnosis. Anterior orbitotomy with complete excision of the mass was performed under general anaesthesia. Histopathological examination revealed an encapsulated, lobulated lesion consisting of mature lipocytes and occasional blood vessels with thrombi. The lesion was divided into numerous lobules by thick fibrous bands. Immunohistochemical stain S100 was strongly positive in the lipocytes. At 3 months of follow-up, the patient had moderate ptosis with leucomatous corneal opacity with no recurrence.

We report a novel use of transcatheter aortic valve replacement (TAVR) for valve-in-valve tricuspid valve replacement. A man in his 50s with prohibitive risks for surgical intervention underwent this procedure to improve severe, symptomatic tricuspid stenosis. Though current literature is limited to case reports, the Valve-in-Valve International Database (VIVID) reports similar mortality rates between surgical and transcutaneous replacement. As a novel, off-label procedure, there is limited operator experience. Nonetheless, in non-operative or high-risk patients, similar outcomes are noted in between transcatheter tricuspid valve replacement and surgical replacement. This registry sets the framework for further studies with the possibility of observing outcomes as operator experience increases, while highlighting the feasibility of the procedure.

A male in his late 70s with a history of an uncomplicated kidney transplantation 20 years prior was brought to the Emergency Department after experiencing blunt abdominal trauma following a motor vehicle collision. Imaging revealed a large perinephric haematoma, a retroperitoneal haematoma and multiple fractures. He was admitted to the intensive care unit where a renal haematoma was found to be expanding with ultrasonography (US) and developed renal dysfunction including anuria and hyperkalemia. His creatinine rose to twice his baseline and Doppler US showed elevated resistive indices, confirming extrinsic compression and causing a Page phenomenon. An open surgical exploration through the upper aspect of his Gibson incisional scar was performed followed by evacuation of the haematoma. An intraoperative US was done demonstrating good flow in the renal vessels. His postoperative course was uncomplicated and was discharged home with renal function back to baseline. On follow-up, he continued to have a good renal function.

An otherwise healthy young man was referred to the rheumatologist because of bilateral proximal interphalangeal (PIP) joint enlargements. The main concern was excluding the presence of inflammatory arthritis. Physical examination revealed bilateral PIP finger joints (II-IV) swellings and cutaneous thickenings in adjacent areas. The specificity of this case was the patient who appeared in the physician’s room with his violin suitcase pointing to his profession even from the first site. Complete blood count with leucocyte differentials appeared without changes. Radiographics failed to show joint fluid or bony changes. All immunological markers (RF, anti-cyclic citrullinated peptide) and laboratory data (Erythrocyte sedimentation rate, C-reactive protein, etc) were within the reference ranges or negative. After exclusion of rheumatoid and other inflammatory arthritis, and considering the occupation of the patient and demographics the diagnosis of a rare condition–pachydermodactyly was made.

A previously healthy man in his 60s being worked up for splenomegaly presented to the emergency department with recurrent episodes of angioedema. Each episode was attributed to a precipitating cause, and consequently, the predisposing C1 esterase inhibitor (C1-INH) deficiency remained undiagnosed until the third presentation. The aetiology of acquired C1-INH deficiency would be primarily obscure and require further investigations to identify. A clonal B cell population was finally isolated by flow cytometry after multiple repeat marrow samples, and a diagnosis of splenic marginal zone lymphoma was subsequently reached. Response to single-agent rituximab was observed with resolution of splenomegaly, disappearance of the antibody and restoration of C1-INH levels.

A man in his mid-40s presented to hospital with confusion, headache and feeling generally unwell. He had had a total resection of a grade IV astrocytic glioma 1 year prior. Initial observations, blood tests and CT head scan were unremarkable for acute features to explain the patient’s presentation. However, an MRI head scan on this admission demonstrated a clear communicating hydrocephalus with new abnormal leptomeningeal enhancement, consistent with leptomeningeal metastatic infiltration by glioma. Lumbar puncture cytology and biochemistry supported this interpretation. As a small district general hospital in rural Wales, we discuss the experience of diagnosis and coordination of specialist input from a multidisciplinary team. We share the challenges of managing leptomeningeal disease in the COVID-19 pandemic, in the context of the additional risks this presents with chemotherapy-induced immunosuppression.

A man in his 20s presents to the emergency department after a water skiing accident and was diagnosed with a grade 3 left renal laceration. He subsequently required cystoscopic insertion of a ureteric stent after failing a trial of conservative management. Over the next 9 months, he re-presented to the hospital twice with increasing flank pain and fevers. Subsequent imaging demonstrated interval progression of the retroperitoneal haematoma with a suspicious calcified lower pole lesion which was biopsied subsequently and revealed malignant tissue. External compression of the kidney by this large haematoma was also thought to be contributing to a state of Page kidney. The patient underwent definitive management with an open left-sided radical nephrectomy which confirmed type 2 papillary renal cell carcinoma. The patient is now normotensive and back to his baseline function. He will undergo surveillance CT imaging and be referred to familial genetic services.

Systemic sclerosis is an autoimmune disease that can result in lung fibrosis, and is strongly associated with the presence of serum anti-topoisomerase-I autoantibodies. A young man with genetic muscular dystrophy caused by titin-cap/telethonin (TCAP) gene mutation, developed a severe restrictive lung disease due to a fibrosing interstitial pneumonia secondary to systemic sclerosis with positive anti-topoisomerase-I antibodies. Using amino acid sequence alignment and protein structure modelling, we found that mutant telethonin exposes an amino acid sequence with significant homology to an immunodominant site of topoisomerase-I. Abnormal telethonin results in a loss of integrity of the sarcomere structure, which might result in rhabdomyolysis and abnormal protein exposure to the immune system. Our preliminary analysis suggests a possible role for mutant sarcomere protein telethonin as an immunogenic target recognised by anti-topoisomerase-I antibodies, which could explain the development of systemic sclerosis in this particular patient.

Objectives. To determine characteristics and sources of exposure in veterans with elevated blood lead levels (BLLs). Methods. We included users of US Veterans Health Administration care aged 18 years or older tested for BLL from October 2015 to September 2021. Prevalence of BLL 10 micrograms per deciliter (µg/dL) or higher and 25 µg/dL or higher was determined within demographic groups. Logistic regression analysis measured association of International Classification of Diseases, Tenth Revision, Clinical Modification‒coded conditions with elevated BLL. Electronic notes were reviewed for exposure sources. Results. Among 1007 unique veterans with BLL 10 µg/dL or higher, prevalence of BLL 10 µg/dL or higher and 25 µg/dL or higher peaked at 4.9 and 1.3 per 100 000 veterans, respectively (fiscal year 2019), and was highest in non-Hispanic White men and those aged 25 to 34 years. Conditions predicted by elevated BLL were attention-deficit/hyperactivity disorder (ADHD) and nausea or vomiting. Firearms represented 70.1% of occupational and 85.9% of nonoccupational exposures. Toxicology consults occurred in 17 of 298 (6%) with BLL 25 µg/dL or higher. Conclusions. Firearms were the largest exposure source among veterans with elevated BLL. Clinicians should be alert for potential conditions (including ADHD and nausea or vomiting in our study) associated with lead exposure. Standardization of care regarding toxicology referral practices is warranted. (Am J Public Health. 2022;112(S7):S670–S678. https://doi.org/10.2105/AJPH.2022.306936 )

Thyroid storm is a rare, fatal complication of thyrotoxicosis that necessitates aggressive medical treatment. We present a case of a patient who developed duodenal ulcer perforation as a result of a thyroid storm caused by Graves’ thyrotoxicosis. In addition to life-threatening intra-abdominal sepsis complicated by high anion-gap metabolic acidosis, he was found to have severely deranged thyroid hormone levels and clinical features compatible with thyroid storm based on the Burch-Wartofsky Score. Diagnosis and management of such patients with compromised gastrointestinal (GI) tract present a remarkable clinical challenge to the anaesthetist and the intensivists. Multidisciplinary care with rapid preoperative optimisation, careful intraoperative anaesthetic techniques and postoperative care resulted in excellent outcomes. This case report sheds light on how to tailor general anaesthesia to minimise physiological derangement associated with thyroid storm and re-establish homeostasis in patients presenting for emergent surgery, particularly those with GI dysfunction.

A man in his 20s attended the emergency department with three days of fever, headache, reduced appetite and a sore throat. COVID-19 point-of-care test was negative. Blood cultures grew a gram-negative coccobacillus,Neisseria elongata. Following an episode of confusion, MRI head revealed septic emboli. Prolapse of the mitral valve with regurgitation was noted on echocardiography. Infection was found to have originated from multiple dental caries and treatment required a combination of dental extraction, prolonged antibiotic therapy and surgery for mitral valve repair.N. elongatais part of the normal oropharyngeal flora but is also a rare cause of endocarditis. There are no established treatment guidelines for endocarditis of this aetiology.N. elongataendocarditis may present atypically, with a murmur only developing several days later. ‘Classical’ stigmata should not be relied on to make a diagnosis.N. elongatapredominantly affects the left side of the heart and predisposes to embolic events.

Costello syndrome (CS) is a rare genetic syndrome affecting multiple organs, generally caused by mutations of theHRASgene, belonging to theRAS/MAPKgenes family.A male patient with CS developed a painful pulsatile mass on the lateral side of the wrist. An initial ultrasonographic investigation confirmed the presence of a radial artery lesion, possibly an arterial aneurysm. On surgical resection, histological evaluation showed a tangle of vascular structures with variable calibre and abnormal wall histology. Immunohistochemical stainings revealed a very poor endothelial contribution to the central vascular wall structure. These histological observations led us to conclude we had managed an acute vascular malformation (VM) rupture, rather than a common arterial aneurysmal condition. Considering the molecular mechanisms regulated byRAS/MAPKgenes, CS patients might have a higher risk of developing VMs and, in the presence of a pulsatile mass with acute onset, VM rupture should be considered.

Spinal epidural abscess (SEA) usually extends over three to four vertebrae. We present a case of holospinal epidural abscess (HEA) caused by the

A man in his mid-20s presented with a painless swelling over his right thigh, which had been progressively increasing over 3 years. He underwent an excisional biopsy for the same, which showed reactive lymphadenopathy. Since the last year and a half, he developed a lower abdominal wall swelling with mild redness over it. In addition, over the last few months before presentation to haematology outpatient clinic, he experienced bouts of fever, night sweats, anorexia, weight loss and right inguinal lymphadenopathy. On examination, splenomegaly was identified. In view of the patients’ symptoms, he underwent a positron emission tomography scan, which showed hypermetabolic activity in the subcutaneous tissue sparing the lymph nodes and spleen. A deep skin punch biopsy taken from his right thigh was consistent with the diagnosis of subcutaneous panniculitis-like T-cell lymphoma αβ T-cell phenotype. The patient was treated successfully with oral steroids and on routine follow-up, he is in remission for 5 years.

Objectives. To estimate excess mortality from non–COVID-19 causes during the COVID-19 pandemic in Philadelphia, Pennsylvania, and understand disparities by race/ethnicity, age, and sex. Methods. We used Poisson regression models of weekly deaths using data from Pennsylvania’s vital registration system (2018–2021). Results. There was significant excess mortality as a result of heart disease, homicide, diabetes, drug overdoses, traffic crashes, and falls in 2020–2021; the burden of this excess non–COVID-19 mortality fell on non-Hispanic Black Philadelphians. Among younger non-Hispanic Black men, homicide and drug overdoses were responsible for 54% and 18% of excess deaths—more than COVID-19 (17%). For younger non-Hispanic Black women, drug overdoses accounted for 51% of excess deaths, whereas COVID-19 accounted for 40%. Conclusions. Excess mortality was not solely caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2; the causative agent of COVID-19), particularly at younger ages. Indirect pandemic mortality exacerbated prepandemic disparities by race/ethnicity. Public Health Implications. Excess mortality as a result of non–COVID-19 causes may reflect indirect pandemic mortality. National cause-of-death data lag behind local cause-of-death data; local data should be examined as an early indication of trends and disparities. Public health practitioners must center health equity in pandemic response and planning. (Am J Public Health. 2022;112(12):1800–1803. https://doi.org/10.2105/AJPH.2022.307096 )

We detail the case of a man in his 80s who was a Jehovah’s Witness, presenting to hospital for the second time in 1 week with atraumatic, severe bruising affecting his right thigh and flank. He was subsequently diagnosed with idiopathic acquired haemophilia A (AHA) and was urgently treated with recombinant factor concentrate and immunosuppressive therapy. Management of his bleeding disorder and resultant severe anaemia was adapted in line with his religious beliefs. AHA is a rare bleeding disorder which should be considered in patients with an isolated prolonged activated partial thromboplastin time and a history of recent or acute bleeding. Prompt diagnosis and management are essential as delays may result in increased mortality. Given that this patient declined blood transfusion, management of his bleeding disorder presented a unique challenge.

Sertoli-Leydig cell tumours (SLCTs) represent a rare cause of hyperandrogenic state. SLCTs are sex cord ovarian neoplasms, accounting for

A man in his early 50s presented with a spontaneous large left-sided retroperitoneal haematoma (RPH), on a background of therapeutic anticoagulation with warfarin for homozygous factor V Leiden. His international normalised ratio was found to be supra-therapeutic at 9.0 on presentation. He was treated non-operatively with prompt reversal of the coagulopathy and close monitoring. On day 4 of the admission, the patient reported scrotal pain and swelling. An urgent scrotal ultrasound revealed infarction of the left testis and the patient was taken to an emergency scrotal exploration. Intraoperatively, the left testis was found to be no longer viable with the left spermatic vein and venules completely thrombosed with extensive clots, while the left testicular artery remained intact. Consequently, a left orchidectomy was performed. Therapeutic anticoagulation was recommenced on day 3 postoperatively. It is thought that the large RPH caused extrinsic compression of the left testicular vein, in addition to the patient’s pre-existing factor V Leiden, which resulted in thrombosis of the blood vessel.

The case of a man in his early 30s, presenting with slowly progressive, asymmetrical onset, pure motor quadriparesis over 9 months with bulbar involvement, absence of upper motor neuron features and significant weight loss, is reported. In view of presentation with diffuse lower motor neuron involvement of short duration, the diagnostic possibilities are discussed. Apart from motor neuron disease, its mimics including muscle and neuromuscular junction disorders were also considered and evaluated for. Carefully assessed clinical and electrophysiological markers which finally clinched the diagnosis of the rare disorder Lambert-Eaton myasthenic syndrome are elaborated. In the present context, recognition of the oddities on clinical and laboratory evaluation is of paramount importance to rule in causes of pure motor quadriparesis.

In developing tropical countries, rhino-orbital-cerebral mucormycosis has been a cause of severe morbidity and mortality during the COVID-19 pandemic. Classically, it develops as an aggressive angioinvasive destruction of nasal, orbital and cerebral involvement. Blindness is a major disabling complication. The association of mucor in cancer is linked with immunosuppression caused by radiation and/or chemotherapy. In this case report, we tried to explore the diverse possibilities of neck swelling, nasal discharge, ocular swelling and dimness of vision in a teenage boy. Rhabdomyosarcoma is a rare tumour of the soft tissue, connective tissue or bone. This type of unusual association or coexistence of rhabdomyosarcoma with mucormycetes is rarely seen in literature.

A teenage boy presented to the clinic complaining of poor vision in both eyes. His best-corrected visual acuity was 20/25. The slit lamp examination revealed vertically oval corneas, crescentic peripheral inferior corneal thinning and ectasia in both eyes. Corneal topography showed against-the-rule astigmatism with mean keratometry (Km) of 45.1 and 45.2 dioptres in the right and left eyes, respectively. High-resolution optical coherence tomography corroborated the clinical findings, and the patient was diagnosed with pellucid marginal corneal degeneration (PMD). Collagen cross-linking was performed in the right eye. Left eye cross-linking is awaited. Although PMD is typically seen in middle-aged (third-fourth decade) patients, it can also occur at earlier ages. Collagen cross-linking can be considered to prevent the progression of the condition.