Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. [<i>Indian J Dermatol Venereol Leprol</i>. 2013 Nov–Dec;79(6):802–4]. Follicular DDD differs from other variants because of its notable comedone-like hyperkeratotic hyperpigmented papules and a distinct histopathology which demonstrates pigmented filiform and branching rete pegs originating at the follicular infundibulum with many epidermal horn cysts while the interfollicular epidermis is essentially normal. Hereby, we present a case of follicular DDD with hidradenitis suppurativa (HS). A 37-year-old Thai man presented with slowly progressive hyperpigmented comedone-like papules on the face, neck, axillae, upper trunk, and buttocks with perioral pitted scars. Punch biopsy from a comedonal lesion on his back was consistent with follicular DDD. He also had recurrent painful nodules and abscess on the back, groin, and buttock which matched the clinical criteria for the diagnosis of HS. To date, a paucity of concurrent DDD with HS has been reported. Recent genetic studies speculate a shared pathophysiologic mechanism of DDD and HS.

TECHNETIUM-99M MIBI GATED MYOCARDIAL PERFUSION SINGLE PHOTON EMISSION COMPUTED TOMOGRAPHY IMAGING – VALIDATION OF STRESS ONLY PROTOCOL

Objective: To validate ‘stress only’ protocol against ‘rest stress protocol in normal and essentially normal cases undergoing Tc99m MIBI gated myocardial perfusion Single Photon Emission Computed Tomography imaging. Study Design: A retrospective observational study. Place and Duration of Study: Department of Nuclear Cardiology, Armed Forces Institute of Cardiology/National Institute of Heart Disease, Rawalpindi, Pakistan, from Jul to Sep 2019. Methodology: 136 cases were included. Patients underwent Tc-99m gated Single Photon Emission Computed Tomography MPI using a single day, rest/stress protocol. The rest study was performed first with 8-10 mCi Tc-99m MIBI followed by stress study, 3 hours later with 3 times the rest dose. The most common stress technique was pharmacological stress and bicycle ergometer exercise with 0.14 mg/kg/min adenosine infusion. Few patients underwent physical stress using Bruce protocol, achieving a minimum of 85% of the target heart rate. Mages–stress followed by rest–were evaluated by two experienced nuclear cardiologists (blinded to the MPI reports) and interpreted as ‘normal’ or ‘essentially normal’. Results: Evaluation of stress-only and rest-stress Single Photon Emission Computed Tomography myocardial images yielded a concordance rate of 84.56% with Cohen’s kappa coefficient of 0.69. Conclusion: Substantial agreement and good concordance were found in normal and essentially normal ‘stress only’ and ‘rest stress protocols.

1205 Clinical Audit Demonstrating an Increase in Referrals to The Ophthalmology AMD Clinic at University Hospital Southampton

Aim To demonstrate if the introduction of OCT imaging by a national optician chain across its 740 stores in UK (followed by other chains) would increase in referrals to the wet AMD clinic. Secondly to assess if the direct increase of referrals would have an impact on the clinic workload. Method Retrospective review of all referrals made to the AMD service via optometrists/opticians throughout 2018. Total numbers of referrals that were proven to have nAMD requiring injections Inclusion; direct optician referral or GP referral via an optician. Exclusions: Ophthalmologist, Eye Casualty, other clinics and nAMD not requiring injections. Results Opticians were responsible for 62.88% (566) referrals out of 900 to the AMD service The second half of 2018 showed an increase in referrals (130 more) but with improved quality since the diagnostic accuracy of the optometrists increased from 22.94% to 37.64% The improved diagnostic accuracy of the optometrists was found to be statistically significant (Fisher’s exact test: p &lt; 0.0003) Discussion Increase in patients requiring injections directly increases clinic by initial screen and follow up injections. Medical retina departments faced an increase in false positive referrals. Potentially due to seeing essentially normal findings in a new way (B scan) that are artefacts or misinterpretation of either the image or the normative values Conclusions Upon review and presentation of the audit, NHS will invest in an electronic referral system to aid the clinic. Education and ongoing clinical training are essential to the successful launch of an OCT service in the community.

Unusual Abdominal Wall Abscess Post-Laparoscopic Cholecystectomy

Cholecystectomy is the most commonly performed operation worldwide nowadays. Laparoscopic cholecystectomy (LC) is the gold standard treatment of gallstones. We present a case of an 81-year-old male with a 3-months’ history of loss of appetite and weight with no associated symptoms. The patient had undergone an LC for symptomatic cholelithiasis 1 year previously, with an uneventful recovery. The clinical examination was essentially normal. A computed tomography (CT) of the abdomen and pelvis showed thickening of the right perihepatic peritoneum measuring 15 × 15 × 3.5 cm, suggestive of chronic granulomatous lesion or atypical mesothelioma. We performed a diagnostic laparoscopy and found the lesion to be an abdominal wall abscess. The abscess cavity was deroofed, the pus was drained and a thorough wash out given. Surprisingly no stones or any foreign body were found in the cavity. Histology of the abscess wall showed non-specific inflammation. We report this case as a post-LC abdominal wall abscess with two peculiar features – (a) no systemic or local symptoms, and (b) no association with spilt gallstones or other foreign bodies like sutures.

Huoxue Jiedu Huayu Formula Alleviates Cell Pyroptosis in Contralateral Kidneys of 6-Month-Old UUO Rats through the NLRP3/Caspase-1/IL-1β Pathway

Objectives. To study the protective effects and mechanisms of Huoxue Jiedu Huayu formula on cell pyroptosis through the NLRP3/caspase-1/IL-1β pathway in contralateral kidneys in 6-month-old unilateral ureteral obstruction (UUO) rats. Methods. Wistar rats were randomly assigned to 5 groups: a Sham group, a unilateral nephrectomy group (UNX group), a UUO group, a UUO treated with spironolactone group (Spi group), and a UUO treated with Huoxue Jiedu Huayu formula group (HJHF group). After 6 months of oral drug intervention, blood and contralateral kidneys were collected for research. Results. The morphology and function of the contralateral kidneys were essentially normal after unilateral nephrectomy. HJHF obviously decreased serum creatinine, urea, and inflammatory lesions and depressed cell pyroptosis based on the NLRP3/caspase-1/IL-1β pathway. Moreover, spironolactone, a mineralocorticoid receptor (MR) blocker, suppressed cell pyroptosis through SGK-1 and NF-кB. Conclusion. HJHF and spirolactone inhibited excessive activation of MR and then reduced cell pyroptosis, which was dependent on the NLRP3/caspase-1/IL-1β pathway, to protect the contralateral kidneys of 6-month-old UUO rats.

Yorkie ensures robust tissue growth in Drosophila ribosomal protein mutants

Heterozygosity of a ribosomal protein gene causes a variety of developmental abnormalities in humans, which are collectively known as ribosomopathies, yet the underlying mechanisms remain elusive. Here, we analyzed Drosophila mutants heterozygous for a ribosomal protein gene, called Minute (M)/+ mutants. We found that, while M/+ flies develop essentially normal wings, simultaneous deletion of one copy of the Hippo pathway effector yki resulted in severe wing growth defects. These defects were caused by JNK-mediated cell death in the wing pouch via Eiger/TNF signaling. The JNK activation in M/+, yki/+ wing discs required a caspase Dronc, which is normally blocked by DIAP. Notably, heterozygosity of yki reduced DIAP1 expression in the wing pouch, leading to elevation of Dronc activity. Dronc and JNK formed a positive feedback loop that amplifies Dronc activation, leading to apoptosis. Our observations suggest a novel mechanism of robust tissue growth whereby tissues with reduced ribosomal protein prevent ectopic apoptosis via Yki activity.

An Observational Study of, EEG Abnormalities and Clinical Outcome in Schizophrenia, Conducted in Government Hospital for Mental Care in Visakhapatnam

BACKGROUND Schizophrenia is a chronic mental illness with severe disruptions in thought, perception, language, and sense of self. Although there are a lot of recent advances in pharmacotherapy, a large percentage of persons with Schizophrenia remain treatment resistant or at least partially non-resistant to drugs. The recent increase of interest in the neurobiology of Schizophrenia and other psychiatric disorders, the emergence of neuropsychiatry, and the recent advances in computerized analyses of EEG have resulted in a revival of interest in electrophysiology among mental health professionals. METHODS This is a prospective observational study. A total of 84 subjects who were drug naïve and diagnosed with Schizophrenia were included in the study by convenience sampling. General information sheet to collect the socio-demographic and clinical details, Positive and Negative Syndrome Scale (PANSS), Clinical Global Impression scale, Electroencephalogram recordings were used. Data analysis was performed by using the SPSS Software version 23. Descriptive statistics and correlational statistics were used to analyse the collected data. RESULTS A total of 84 subjects who were diagnosed with Schizophrenia were included in the study. Out of 84 patients, 22 were lost to follow up bringing the valid sample of the study to 62. EEGs of the sample subjects were classified based on the modified sample, EEGs of 45 (72.58 %) subjects were normal, EEGs of 13 (20.97 %) subjects were essentially normal, and EEGs of 4 (6.45 %) subjects were classified as abnormal. CONCLUSIONS No statistically significant differences were found in Positive and negative syndrome scale scores at baseline when compared between normal, essentially normal and abnormal EEG groups of first episode schizophrenia subjects. KEYWORDS Electroencephalogram (EEG), Schizophrenia, PANSS, CGI Scale, SPSS Software Version 23.0

Use of constitutive and inducible oncogene-containing iPSCs as surrogates for transgenic mice to study breast oncogenesis

Background Powerful constitutive and inducible transgenic / bitransgenic / tritransgenic murine models of breast cancer have been used over the past two decades to shed light on the molecular mechanisms by which the given transgenic oncogenes have interacted with other cellular genes and set in motion breast cancer initiation and progression. However, these transgenic models, as in vivo models only, are expensive and restrictive in the opportunities they provide to manipulate the experimental variables that would enable a better understanding of the molecular events related to initial transformation and the target cell being transformed. Methods To overcome some of these limitations, we derived oncogene-containing induced pluripotent stem cell (iPSC) clones from tail vein fibroblasts of these transgenic mice and manipulated them both in vitro and in vivo in non-transgenic background mice. We created the iPSC clones with a relatively low M.O.I, producing retroviral integrations which averaged only 1 to 2 sites per retroviral plasmid construct used. Results Most iPSC clones derived from each group displayed an essentially normal murine karyotype, strong expression of the exogenous reprogrammable genes and significant expression of characteristic endogenous murine surface stem cell markers including SSEA-1 (CD15), PECAM-1 (CD31), Ep-Cam (CD326), and Nectin (CD112), but no expression of their transgene. A majority (75%) of iPSC clones displayed a normal murine karyotype but 25% exhibited a genomically unstable karyotype. However, even these later clones exhibited stable and characteristic iPSC properties. When injected orthotopically, select iPSC clones, either constitutive or inducible, no longer expressed their exogenous pluripotency reprogramming factors but expressed their oncogenic transgene (PyVT or ErbB2) and participated in both breast ontogenesis and subsequent oncogenesis. When injected non-orthotopically or when differentiated in vitro along several different non-mammary lineages of differentiation, the iPSC clones failed to do so. Although many clones developed anticipated teratomas, select iPSC clones under the appropriate constitutive or inducible conditions exhibited both breast ontogenesis and oncogenesis through the same stages as exhibited by their transgenic murine parents and, as such, represent transgenic surrogates. Conclusions The iPSC clones offer a number of advantages over transgenic mice including cost, the ability to manipulate and tag in vitro, and create an in vitro model of breast ontogeny and oncogenesis that can be used to gain additional insights into the differentiated status of the target cell which is susceptible to transformation. In addition, the use of these oncogene-containing iPSC clones can be used in chemopreventive studies of breast cancer.

Postpartum Congestive Heart Failure Due to Diastolic Dysfunction: Importance of Advanced Echo-Doppler Analysis

We present a case of a 25 year-old female who developed acute hypoxic respiratory failure secondary to postpartum heart failure with preserved ejection fraction. Despite essentially normal tissue Doppler velocities and E/e’ ratio by existing guidelines for the adult population, available literature suggests that our patient’s markers of diastolic function were significantly abnormal relative to what is expected in the third trimester of pregnancy. Advanced echo-Doppler analysis and her clinical presentation support the presence of underlying diastolic dysfunction. This case illustrates the challenges associated with the diagnosis of diastolic dysfunction during pregnancy and the need for pregnancy specific guidelines.

Ischemia of Non-Obstructive Coronary Artery Disease: Need to Address in our Patient Population

Ischemia of non-occlusive coronary artery disease (INOCA) not an uncommon phenomenon, exist in our patient population which did not address well. Many of the stable angina and or unstable angina patient, whose coronary angiogram revealed significant coronary stenosis (>70%) are being treated by PCI with drug eluting stent. On the contrary, quite a significant proportion of patient, who are found to have non-significant coronary lesion (<50%) or essentially normal epicardial coronaries. These group of patients with angiographic evidence of non-occlusive CAD, remain undiagnosed of their exact etiology of angina. As a result, recurrence of anginal chest pain leading to repeat hospitalization impaired quality of life and the expenditure. Women are significant number in this category, labelled as syndrome X. Many of the scientific literature, has labeled it as Ischemia of Non obstructive Coronary artery Disease. Notably, Microvascular angina is due to ischemia driven mismatch of demand and supply in the myocardium. Microvascular Dysfunction (MVD) and Coronary vascular spasm or Vasospastic Angina (VSA) are the main pathogenic causes of INOCA. With the advent of Imaging physiology, and its availability in Bangladesh, many of the center can assess INOCA and its severity by FFR, iFR, DFR and transthoracic Doppler study of the coronaries. Therefore, we recommend evaluating INOCA patient by available technical assistance and to address the issue and patients suffering with repeated hospitalization and financial expenditure. Cardiovasc. j. 2021; 13(2): 217-222