Clinical efficacy of crushed prednisolone and hydrocolloid powder in the primary treatment of peristomal pyoderma gangrenosum and correlation to in vitro drug release data.

We evaluated the primary application of crushed prednisolone combined with hydrocolloid powder for clinically diagnosed peristomal pyoderma gangrenosum (PPG). We present our data on this cohort and follow-up of our previous patients. Of the 23 patients who were commenced on this regime, 18 healed (78%). Twenty-two patients commenced on this regime as the primary treatment for their PPG, and for one, it was a rescue remedy after failed conventional therapy. Four patients with significant medical comorbidities failed to heal and one had their stomal reversal surgery before being fully healed. The proposed treatment regime for PPG is demonstrated to be effective, inexpensive and able to be managed in the patient's usual home environment. In vitro drug release analysis was undertaken, and data are presented to provide further insights into the efficacy of this regime.

Adult hemiconvulsive hemiatrophy syndrome: a novel clinicoradiologic disorder in adults.

The association of focal motor seizures with cerebral hemiatrophy is a recognised rare paediatric syndrome known as 'hemiconvulsion, hemiatrophy and epilepsy' (HHE). To date, HHE has not been reported in adults. We present four adult patients with striking similarities to HHE, following alcohol withdrawal in chronic alcoholics. We document the imaging findings in the acute and subacute phases, discuss the underlying mechanisms and present a hypothesis regarding the pathophysiology.

Osmotic demyelination syndrome: novel risk factors and proposed pathophysiology.

BACKGROUND: Osmotic demyelination syndrome (ODS) is non-inflammatory demyelination in response to an osmotic challenge. It can be pontine or extrapontine in presentation. AIMS: To retrospectively review cases involving ODS and define the spectrum of causes, risk factors, clinical and radiological presentations, and functional outcomes. RESULTS: The study utilised data from 15 patients with a mean age of 53.6 years. Malnutrition (9; 60%) and chronic alcoholism (10; 66.7%) were the most common associated disorders. Two (13.3%) patients had severe hyponatraemia (<120 mmol/L). The average highest single-day change was 5.1 mmol/L. Radiologically, 14 (93.3%) had pontine and 6 (40%) had extra-pontine lesions. Hypokalaemia (14; 93.3%) and hypophosphataemia (9; 60%) were commonly associated. Common clinical manifestations include altered consciousness/encephalopathy (9; 60%), dysphagia (4; 26.7%) and limb weakness (4; 26.7%). At 3 months, two (14.3%) had died and six (40%) were functionally independent (modified Rankin scale 0-2). CONCLUSION: We found that ODS occurred despite appropriate correction rates of hyponatraemia. Factors such as malnutrition, chronic alcoholism, hypokalaemia and hypophosphataemia are thought to play a role in its pathogenesis. Approximately half of the patients survived and became functionally independent.

Moyamoya-Like Vasculopathy and Orbital Trauma: An Association.

An Asian man in his 20s developed asymptomatic ipsilateral moyamoya-like vascular changes following orbital and head trauma. An ipsilateral traumatic optic neuropathy with extensive optic cupping ensued. The complex embryology of the ocular vascular development is reviewed as having a potential causative role in the intracranial carotid vasculopathy.

Anti-Müllerian hormone concentration is associated with central adiposity and reproductive hormones in expectant fathers.

OBJECTIVE: The role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers. DESIGN: ORIGINS Project prospective cohort study. SETTING: Community-dwelling men. PARTICIPANTS: Partners of pregnant women attending antenatal appointments. MAIN OUTCOME MEASURES: Serum AMH, FSH, LH, testosterone, and metabolic parameters. RESULTS: In 485 expectant fathers, median age 33 years, median AMH was 40 pmol/L (quartiles 29, 56). AMH was inversely correlated with FSH, age, and body mass index (BMI) (correlation coefficients: -.32, -.24, and -.17 respectively). The age association was nonlinear, with peak AMH between 20 and 30 years, a decline thereafter, and somewhat steady levels after 45 years. The inverse association of AMH with FSH was log-linear and independent of age and BMI (ß: -.07, SE: 0.01, p < .001). AMH was inversely correlated with waist circumference and directly associated with sex hormone-binding globulin. Testosterone was moderately correlated with AMH (correlation coefficient: .09, ß: .011, SE: 0.004, p = .014): this association was mediated by an inverse relationship with BMI (mediated proportion 0.49, p < .001). CONCLUSIONS: In reproductively active men, lower AMH is a biomarker for advancing age, and for poorer metabolic and reproductive health. The inverse association between AMH and FSH is independent of age and BMI, whereas the association of AMH and testosterone is mediated via BMI. The utility of AMH to predict reproductive and cardiometabolic outcomes in men warrants further investigation.

Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.

The clinical and neuroimaging findings of a family with a variant ACTA2 gene (c351C > G), presenting with smooth muscle dysfunction in structures of neural crest derivation, are discussed. The combination of aortic abnormalities, patent ductus arteriosus, congenital mydriasis and distinctive cerebrovascular and brain morphological abnormalities characterise this disorder. Two sisters, heterozygous for the variant, and their mother, a mosaic, are presented. Brain parenchymal changes are detailed for the first time in a non-Arg179His variant. Radiological features of the petrous canal and external carotid are highlighted. We explore the potential underlying biological and embryological mechanisms.

Cough as a clinical manifestation of large vessel vasculitis.

Cough is not a widely recognised symptom of large vessel vasculitides. If not promptly diagnosed and treated, large vessel vasculitis can have serious clinical consequences. We present the case of a 76-year-old man who presented with a subacute history of persistent dry cough, was found to have extensive aortitis on imaging, and experienced rapid resolution of symptoms with immunosuppression.

Vascular Ehlers-Danlos Syndrome: Treatment of a Complex Abdominal Wound with Vitamin C and Mesenchymal Stromal Cells.

ABSTRACT: Vascular Ehlers-Danlos syndrome (EDSv) can present with life-threatening surgical complications. The article describes the case of a patient with EDSv who developed total abdominal wound dehiscence and multiple enterocutaneous fistulas. Treatment with IV allogeneic mesenchymal stromal cells (MSCs) and high-dose vitamin C was trialed with success. Near-complete wound healing of the abdominal dehiscence with a 94% reduction in the size of the wound bed occurred. Maturation of the enterocutaneous fistulas also ensued.There is no current consensus on the management of large cutaneous wounds in EDSv. This article discusses the pathophysiology of wound healing with regard to nutrition requirements and growth factors with special reference to collagen deficits in EDSv. A potential therapy with IV vitamin C supplementation and MSCs is proposed following the patient's positive outcome. Medium-dose MSCs and high-dose IV vitamin C may offer significant benefits to complex and problematic wounds.

Nivolumab-associated myositis myocarditis and myasthenia and anti-striated muscle antibodies.

An 82-year-old man was treated with neo-adjuvant nivolumab (programmed cell death protein 1 or PD-1 inhibitor) for local recurrence of melanoma developed myositis, myocarditis and a myasthenic-like syndrome with a fatal outcome. The occurrence of these three conditions may constitute a new immune checkpoint-induced syndrome. The relevance of the clinical features and the immunology is discussed. This case highlights the special role of anti-striated muscle antibodies as a predictor of mortality.

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

BACKGROUND: Congenital mydriasis and retinal arteriolar tortuosity are associated with the life-threatening multisystemic smooth muscle dysfunction syndrome (MSMDS) due to mutations in the gene, ACTA2, which encodes alpha-smooth muscle actin (α-SMA). Previous reports attributed MSMDS-related congenital mydriasis to the absence of iris sphincter muscle. Similarly, it has been hypothesized that abnormal proliferation of the vascular smooth muscle cells causes the marked tortuosity of retinal arterioles in MSMDS. In this report, high-resolution ocular imaging reveals unexpected findings that reject previous hypotheses. CASE PRESENTATION: The proband is a 37-year-old female with a history of neonatal patent ductus arteriosus (PDA) ligation, left-sided choreiform movements at the age of 11 and a transient aphasia with right-sided weakness at the age of 30. Her older sister also had PDA ligation and congenital mydriasis but no neurological deficit up to age 41. Magnetic resonance angiogram demonstrated cerebrovascular lesions resembling but distinct from Moyamoya disease, characterised by internal carotid artery dilatation, terminal segment stenosis and absent basal collaterals. Their mother had poorly reactive pupils with asymptomatic cerebral arteriopathy resembling her daughters. All three had prominent retinal arteriolar tortuosity. The daughters were heterozygous and the mother was a somatic mosaic for a novel c.351C > G (p.Asn117Lys) transversion in ACTA2. Iris optical coherence tomography (OCT) showed a hyporeflective band anterior to the pigment epithelium indicating the presence of dysfunctional sphincter muscle. Adaptive optics retinal imaging showed no thickening of the arteriolar vessel wall whilst OCT angiography showed extreme corkscrew course of arterioles suggesting vessel elongation. CONCLUSIONS: In addition to the known association between Met46, Arg179 and Arg258 substitutions and ACTA2-related arteriopathy, this case illustrates the possibility that Asn117 also plays an important role in α-SMA function within the cerebrovascular smooth muscle cell. MSMDS-related congenital mydriasis is due to reduced iris sphincter contractility rather than its absence. Retinal arteriolar tortuosity might be due to longitudinal proliferation of arteriolar smooth muscle cells. The described cerebrovascular and ocular signs are consistent with predicted effects of the novel Asn117Lys substitution in ACTA2.

Human Fetal Tissue from Elective Abortions in Research and Medicine: Science, Ethics, and the Law.

Since the U.S. Supreme Court issued its landmark decision in 1973 to legalize abortion, over 60 million preborn have been killed by elective abortion. While alive in the womb, these preborn are abandoned and not protected under current law. But once aborted, their body parts are a highly esteemed and prized commodity amongst certain members of the scientific community. Moral discourse is disregarded for the sake of science. The public have been lulled and lured into believing that this practice must continue in order to understand and develop cures for some of the most debilitating diseases of our day. But they are mistaken. This practice is not necessary, especially in light of numerous noncontroversial alternatives. Here, we expose and consider the false and misleading claims regarding human fetal tissue (HFT) in research from scientific, legal, and ethical points of view. We endeavor deeply to understand the depth of the injustice in this practice and what forces promote and maintain it; and by revealing and understanding these forces, we set forth how these inhumane practices can be ended. An accurate portrayal of the history of HFT use in research is provided, along with a close examination of the current state of this practice under existing laws. The serious societal implications are also discussed, which will worsen beyond comprehension if these practices are allowed to continue. The timeliness of this information cannot be overstated, and a thorough understanding is paramount for anyone who desires to know the facts about HFT in research and medicine and its detrimental impact for humanity.

Lactation ketoacidosis: an easily missed diagnosis.

Ketoacidosis is uncommon in non-diabetic women, but occurs in the postpartum period as a rare complication of continuing to breastfeed during periods of acute illness. We report a case of a lactating woman who presented with severe symptomatic ketoacidosis in the early postpartum period. We also review the pathophysiology and management of lactation ketoacidosis.

A novel topical therapy for resistant and early peristomal pyoderma gangrenosum.

Peristomal pyoderma gangrenosum (PPG) is an under-recognised and difficult condition to treat. We describe a case series using a novel topical combination therapy that promotes wound healing and allows for adhesion of the stoma appliance. A crushed oral prednisolone tablet mixed with Stomahesive Protective Powder (ConvaTec) was applied topically to seven patients with PPG and resulted in pain relief and wound healing in six of seven patients. Only one patient experienced recurrence. The novel topical therapy we describe is cost-effective, readily available, and easily applied in any inpatient or outpatient setting.

Metformin-induced encephalopathy: the role of thiamine.

A case of metformin encephalopathy is presented in a patient on haemodialysis for end-stage diabetic renal failure. The patient presented with frequent falls and clinical signs of Parkinsonism, on a background of recent anorexia and significant weight loss. Magnetic resonance imaging showed bilateral, symmetrical abnormalities centred on the lentiform nuclei. Metformin was withheld and signs and symptoms quickly resolved. We hypothesise that metformin may cause thiamine deficiency in patients with end-stage renal failure resulting in a specific metabolic encephalopathy.

Utility of Ward-Based Retinal Photography in Stroke Patients.

BACKGROUND: Improvements in acute care of stroke patients have decreased mortality, but survivors are still at increased risk of future vascular events and mitigation of this risk requires thorough assessment of the underlying factors leading to the stroke. The brain and eye share a common embryological origin and numerous similarities exist between the small vessels of the retina and brain. Recent population-based studies have demonstrated a close link between retinal vascular changes and stroke, suggesting that retinal photography could have utility in assessing underlying stroke risk factors and prognosis after stroke. Modern imaging equipment can facilitate precise measurement and monitoring of vascular features. However, use of this equipment is a challenge in the stroke ward setting as patients are frequently unable to maintain the required seated position, and pupil dilatation is often not feasible as it could potentially obscure important neurological signs of stroke progression. MATERIALS AND METHODS: This small study investigated the utility of a novel handheld, nonmydriatic retinal camera in the stroke ward and explored associations between retinal vascular features and stroke risk factors. This camera circumvented the practical limitations of conducting retinal photography in the stroke ward setting. RESULTS: A positive correlation was found between carotid disease and both mean width of arterioles (r = .40, P = .00571) and venules (r = .30, P = .0381). CONCLUSIONS: The results provide further evidence that retinal vascular features are clinically informative about underlying stroke risk factors and demonstrate the utility of handheld retinal photography in the stroke ward.

Chronic Cystoisospora belli infection in an immunocompetent Myanmar refugee - microscopy is not sensitive enough.

BACKGROUND: Cystoisosporiasis is an opportunistic infection seen more commonly in patients with acquired immunodeficiency syndrome. Although uncommon, Cystoisospora infection can occur in immunocompetent individuals but tend to be benign and self-limiting. Chronic infection however, has been described but diagnosis can often be challenging and requires a high clinical index of suspicion. CASE PRESENTATION: We present a case of delayed diagnosis of Cystoisospora belli (C. belli) in an immunocompetent 28-year-old refugee from Myanmar. She had a history of chronic diarrhea where exhaustive investigations over many years failed to reveal a diagnosis. Cystoisospora belli cysts were finally detected in stool 4 years after investigation commenced, and PCR testing on stored colon biopsies amplified a molecular product with 99 % sequence homology to C. belli. The patient improved promptly with trimethoprim-sulfamethoxazole treatment. CONCLUSION: In the appropriate clinical context we suggest molecular testing for C. belli or an empirical therapeutic trial.