Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
Τρίτη 26 Σεπτεμβρίου 2017
MOHS micrographic surgery for treating erosive adenoma of the nipple: a case report and review of the literature
Abstract
Background
Erosive adenoma of the nipple (EAN) is a benign condition that involves major ducts of the nipple. Its clinical presentation may resemble other disorders. Complete removal of the nipple is often suggested because of frequent relapse. However, adverse cosmetic and functional results have prompted clinicians to look for other more conservative options.
Aims
To present a case of EAN successfully treated using Mohs micrographic surgery (MMS) and summarize differential diagnosis and treatment.
Materials and Methods
A 40-year-old woman with EAN was diagnosed by immunohistochemical markers after clinical suspicion. We have reviewed other cases treated with MMS in the literature.
Results
In this patient, lesion size was 0.8 cm and the margin specimen was 1 × 0.9 × 0.2 cm, with EAN as histopathologic diagnosis. No atypia or malignancy was reported. Final esthetic outcome was reached with only one session, under local anesthesia and on an outpatient basis.
Discussion
Dermatologic lesions appearing on the nipple's surface should be closely followed. Paget's disease, carcinoma or proliferative lesions like EAN have to be considered, and such conditions require different surgical approaches. Traditional complete removal of the nipple is performed in many cases, but it may result in over-treatment and unfavorable cosmetic outcome. MMS is frequently used in dermatologic surgery to treat malignant lesions with a high cure rate, avoiding excess tissue excision and leading to better patient satisfaction.
Conclusion
EAN can be successfully treated by minimal resection, especially if early diagnosis is done. MMS offers a better aesthetic outcome than traditional total excision.
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Tocotrienol-rich fraction attenuates UV-induced inflammaging: A bench to bedside study
Summary
Background
UV radiation from the sun is the most common environmental stressor to damage the skin. It is now well established that photodamaged skin manifests signs of mild but chronic inflammation, termed as "inflammaging." Thus, there is an urgent need for anti-inflammatory regimes that can limit the damage caused by inflammation.
Objectives
This study aimed to evaluate the possible palliative effects of a new topical nanoemulsion formulation containing tocotrienol-rich fraction (TRF) on UV-induced inflammation (erythema) of human skin.
Methods
An in vitro model was used to demonstrate the ability of TRF to alleviate photodamage via attenuation of UV-induced oxidative stress and inflammation. Two ex vivo models (skin antioxidative potential and radical sun protection factor) were used to determine the efficacy of different formulations of TRF on the skin. A UV-induced erythema protection test in 20 subjects was conducted.
Results
In vitro studies involving HaCaT keratinocytes revealed that TRF possesses marked anti-inflammatory properties, as indicated by the attenuation of UV-induced upregulation of pro-inflammatory cytokines. A 1% TRF formulation was found to be more effective in enhancing the endogenous antioxidative protection of skin compared to 1% TRF in medium chain triglycerides because of its higher penetration kinetic profile. The clinical study showed that formulated TRF was effective in reducing skin redness after UV irradiation as early as after 6 hours of application. A significant depigmentation was also observed in TRF treatment subjects.
Conclusion
TRF may serve as an anti-inflammatory compound that is safe to be applied daily to protect the skin from UV-induced inflammaging.
http://ift.tt/2wVmsyX
Risk prediction tools for keratinocyte carcinoma after solid organ transplantation: a review of the literature
Summary
Long-term iatrogenic immunosuppression increases the risk of cutaneous malignancies in organ transplant recipients (OTRs), particularly the keratinocyte cancers basal cell carcinoma and cutaneous squamous cell carcinoma (cSCC). cSCC is the most common malignancy in OTRs, with the risk increased to over 65-fold in transplanted patients relative to the general population. There have been very few risk prediction tools developed for accurate determination of the risk of developing keratinocyte cancers in the OTR population. This review summarizes the prediction tools developed to date, and outlines future directions for developing more accurate prediction models that are clinically useful for the transplant physician and dermatologist.
http://ift.tt/2y7FR4r
Peritoneum as the sole distant metastatic site of lung adenosquamous cell carcinoma: a case report
Peritoneum metastasis of lung cancer is a rare event which, in addition to the peritoneum, usually involves multiple metastatic tissues. Here we report a case of a patient with lung adenosquamous cell carcinom...
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Deep cerebral venous thrombosis mimicking influenza-associated acute necrotizing encephalopathy: a case report
Acute necrotizing encephalopathy is one of the most devastating neurological complications of influenza virus infection. Acute necrotizing encephalopathy preferentially affects the thalamus bilaterally, as doe...
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Sphenoid Sinus Diseases: A Review of 1,442 Patients
Objective. To review and report diseases of the sphenoid sinus from the literature and from a university hospital. Methods. Inpatients' data were retrospectively gathered and reviewed from January 2006 to June 2016. Clinical data, imaging, organisms, and pathological reports were collected. Pathology was divided into infection/inflammation, tumor, and miscellaneous. A literature review was performed with the search term "isolated sphenoid disease" in PubMed. Original primary studies with 20 patients or more were reviewed. Results and Discussion. One hundred and twenty-two patients were enrolled. Seventy-two subjects were female (59%). The average age was 54.3 years (±18.0). Imaging abnormalities were found incidentally in 27 patients (22.1%). The most common symptom was headache (63.9%). Visual loss, the second most common symptom, was more frequent in the tumor group (30.6% versus 54.2%). From the literature review, 21 primary studies with 1,320 total patients were included. From all studies and the present study, infection/inflammation was the most common pathology (75%) [95% confidence interval (CI): 0.696, 0.804]. Overall, tumors were found in 18.9% and malignant tumors in 7.0% [95% CI: 0.045, 0.095]. Conclusion. A specific diagnosis of a sphenoid lesion is needed during active investigation. Infection/inflammation was the most common pathology and malignancy was found in 7%.
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Manifestations of Inhalant Allergies Beyond the Nose
The upper and lower airways are linked epidemiologically and pathophysiologically. The upper and lower airways are considered a single, functional unit characterized by shared immunologic mechanisms, often referred to as the unified airway. Upper and lower airway inflammatory disease frequently coexist in the same patient. Allergic rhinitis and rhinosinusitis are associated with asthma. Treatment of both diseases impacts asthma outcomes. The otolaryngologist may be the first physician to suspect and diagnose asthma in patients with upper airway complaints. A thorough understanding of the relationship between allergic rhinitis, rhinosinusitis, and asthma will facilitate early identification of asthma and improve patient outcomes.
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FLOTOR Pilot Study
Conditions: Chylothorax; Esophageal Cancer; Thoracic Duct Intra-Operative Injury
Intervention: Drug: Indocyanine Green
Sponsor: Oxford University Hospitals NHS Trust
Not yet recruiting
http://ift.tt/2xAGaC0
Intervention: Drug: Indocyanine Green
Sponsor: Oxford University Hospitals NHS Trust
Not yet recruiting
http://ift.tt/2xAGaC0
Predictors of Normal Tissue Response From the Microenvironment in Radiotherapy for Prostate and Head-and-neck Cancer
Conditions: Prostate Cancer; Head and Neck Cancer
Interventions: Radiation: External beam radiotherapy for prostate cancer; Radiation: External beam radiotherapy for head and neck cancer
Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Recruiting
http://ift.tt/2yqZDnJ
Interventions: Radiation: External beam radiotherapy for prostate cancer; Radiation: External beam radiotherapy for head and neck cancer
Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Recruiting
http://ift.tt/2yqZDnJ
Prognostic impact of pretreatment neutrophil-to-lymphocyte ratio (NLR) in nasopharyngeal carcinoma – a retrospective study of 180 Taiwanese patients
Abstract
Objectives
Nasopharyngeal cancer (NPC) is an endemic disease in Taiwan. Prognostic factors the anatomical TNM stage are important for its prognostic stratification. An elevated neutrophil-to-lymphocyte ratio (NLR) has been reported to be associated with poor prognosis in various solid tumors. In this study, we analyzed the prognostic impact of the NLR in NPC in Taiwan.
Design
Single institution retrospective study.
Setting
Medical Center.
Participants
One hundred and eighty patients with NPC treated at the Far Eastern Memorial Hospital, Taiwan, from January 2007 to December 2013.
Main outcome measures
The association between the clinical or hematological presentations and the prognosis.
Results
The majority of the 180 patients included in this study were men (80%) and were <65 years old (91.7%). A neck mass (55.6%) was the most common clinical presentation, followed by nasal (39.4%) and aural (30.6%) symptoms. In addition, the majority (75.4%) of patients had advanced stage (III and IV) disease. Patients with a high NLR (≧3.6) had significantly lower progression-free survival, overall survival, and disease-specific survival rates. The association between high NLR and poor prognosis was more pronounced in patients with advanced disease than in those with early stage NPC. The results of a multivariate analysis revealed that advanced age, clinical symptoms including headache, diplopia and facial numbness, advanced disease stage, and high NLR were independent prognostic factors.
Conclusion
A high NLR is an independent poor prognostic factor of NPC in Taiwan.
This article is protected by copyright. All rights reserved.
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Age specific incidence and treatment patterns of head and neck cancer in the Netherlands – a cohort study
Abstract
Objectives
To explore the incidence and treatment pattern of head and neck cancer in different age groups.
Design
cohort study.
Setting
Netherlands Cancer Registry.
Participants
All new primary head and neck cancer cases diagnosed between 2010 and 2014 were included and categorized in different age groups.
Main outcome measures
Tumour site, stage, treatment modality, location of diagnosis and treatment.
Results
The study population was composed of 11,558 tumours. Oral cancer was the most common primary site (31%), followed by laryngeal (25%) and oropharyngeal cancer (22%). Ninety-six percent of the entire study population was diagnosed and/or treated in a certified head and neck oncology centre which was lower in the 80+ population (92%). Multimodality treatment was less frequently applied with increasing age (e.g. oral cavity: 17% in 80+ vs. 34% in 60-; p<0.001). The percentage of patients not receiving tumour directed treatment increased with age (e.g. oropharyngeal cancer: 25% in 80+ vs. 6% in 80-; p<0.001).
Conclusions
This study confirms that less multimodal and tumour directed treatment is applied with the increasing age of head and neck cancer patients.
This article is protected by copyright. All rights reserved.
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On the Evaluation of a SuperPower Sound Processor for Bone-Anchored Hearing
Abstract
Objectives
Performance of a superpower bone-anchored hearing aid (Baha), the Baha Cordelle from Cochlear Bone-Anchored Solutions (BCD1), was compared to its successor, the Baha 5 SuperPower (BCD2)
Design
a comparative study in which each patient served as its own control.
Setting
tertiary clinic.
Participants
Ten experienced BCD1 users with profound mixed hearing loss. For comparison, data from another study with ten experienced users with a severe mixed hearing loss using a Cochlear Baha 5 power sound processor (BCD-P) were included.
Main outcome measures
speech reception thresholds in noise and APHAB and SSQ questionnaires.
Results
Speech reception thresholds for the digits-in-noise test were significantly lower (p<5%), i.e. more favourable, for BCD2 in the speech and noise frontal condition and in the speech frontal and noise contralateral condition than for BCD1. For the group with severe mixed loss fitted with BCD-P the SRTs were not significantly different (p>5%) from the BCD2 values.
With the APHAB questionnaire scores were significantly lower, i.e. more favourable, for the ease-of-communication (p<5%) and the background noise (p<1%) domains for BCD2 than for BCD1. APHAB scores for the aversiveness of loud sounds domain were not significantly different for both devices (p>5%). Scores for the speech and quality domains of the SSQ questionnaire were significantly higher, i.e. more favourable, for BCD2 than for BCD1. APHAB and SSQ scores for BCD-P were not significantly different from those for BCD2 (p>5%).
Conclusions
Data for BCD2 in profound mixed loss are similar to those for BCD-P and a severe mixed loss. Out of ten patients two expressed a strong preference for BCD2 over BCD1 and seven patients had a preference for BCD2 over BCD1. One patient preferred BCD1 because of its built-in telecoil facility.
This article is protected by copyright. All rights reserved.
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Intravenous Opioid Drug Abuse as an Independent Risk Factor for Supraglottic Squamous Cell Carcinoma – A Case Control Study
Abstract
Objectives
Intravenous opioid drug abuse (IVDA) was previously correlated with laryngeal cancer. However, discrimination of this correlation by anatomical subsites has not yet been described. In this study we aim to further establish the association between IVDA and laryngeal squamous cell carcinoma (SCC) and to indicate the laryngeal subsites that are predisposed for this correlation.
Design
A retrospective matched case control study.
Setting and Participants
Patients diagnosed with supraglottic SCC (SG-SCC) between 1996 and 2016 treated in a tertiary academic referral center were enrolled to the case group. The control group comprised of matched patients diagnosed with glottis SCC (G-SCC). Matching was based on gender, age and socioeconomic rank.
Main outcome measures
Variables studies as risk factors included: smoking, alcohol consumption, history of IVDA and infectious diseases. The variables were tested for association with the two groups and with each other.
Results
Forty eight patients with SG-SCC were matched with 48 G-SCC patients. IVDA rates significantly increased among SG-SCC patients. Of the SG-SCC group, 18.8% had a positive history for IVDA compared with 2.1% of the G-SCC (p-value=0.008). A history of IVDA was found to be a risk factor for SG-SCC, independent of smoking, excessive alcohol, and socioeconomic status. The odds ratio for patients with an IVDA history to have SG-SCC relatively to G-SCC was 10.846 (95% CI:1.3-89.4).
Conclusions
IVDA represent an independent risk factor for SG-SCC. The pathogenesis should be investigated not just as a risk factor, since opioids are commonly used for pain management in oncologic patients.
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Preadmission statin use improves the outcome of less severe sepsis patients - a population-based propensity score matched cohort study
Abstract
Background.
Randomized controlled trials on the post-admission use of statins in sepsis patients have not shown a survival benefit. Whether preadmission use of statins would confer any beneficial effects in sepsis patients has not been well studied. Methods.
We conducted a population-based cohort study on a national health insurance claims database between 1999 and 2011. Sepsis patients were identified by ICD-9 codes compatible with the third International consensus definitions for sepsis. Use of statin was defined as the cumulative use of any statin for more than 30 days before the indexed sepsis admission. We determined the association between statin use and sepsis outcome by multivariate-adjusted Cox proportional hazard models and propensity score matched analysis. To minimize baseline imbalance between statin users and non-statin users, we matched/adjusted for social economic status, comorbidities, proxies for healthy lifestyle, health care facility utilization, and use of medications. Results.
We identified 52 737 sepsis patients, of which 3599 received statin treatment. Statins use was associated with a reduced 30-day mortality after multivariable adjustment (HR 0.86, 95% CI, 0.78–0.94) and propensity score matching (HR, 0.88; 95% CI, 0.78–0.99). On subgroup analysis, the beneficial effects of statins were not significant in patients receiving ventilator support or requiring ICU admission. Conclusions.
In this national cohort study, preadmission statin therapy before sepsis development was associated with a 12% reduction in mortality when compared with patients who never received a statin. There were no consistent beneficial effects of statins in all patient subgroups.http://ift.tt/2fvIuFJ
Development of an intracranial dural arteriovenous fistula after venous sinus stenting for idiopathic intracranial hypertension
We report a case in which an intracranial dural arteriovenous fistula (DAVF) developed after endovascular treatment of a patient with idiopathic intracranial hypertension with venous sinus stenting (VSS). The pathogenesis may involve hemodynamic alterations secondary to increased poststenting venous sinus pressure, which may cause new arterial ingrowth into the fistulous sinus wall without capillary interposition. Despite administration of dual antiplatelet therapy, there may also be subclinical cortical vein thrombosis that contributed to DAVF formation. In addition to the aforementioned mechanisms, increased inflammation induced by VSS may upregulate vascular endothelial growth factor and platelet-derived growth factor expression and also promote DAVF pathogenesis. Since VSS has been used to obliterate DAVFs, DAVF formation after VSS may seem counterintuitive. Previous stents have generally been closed cell, stainless steel designs used to maximize radial compression of the fistulous sinus wall. In contrast, our patient's stent was an open cell, self-expandable nitinol design (Protégé Everflex). Neurointerventionalists should be aware of this potential, although rare complication of DAVF formation after VSS.
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Copper deficiency caused by excessive alcohol consumption
Copper deficiency is a disease that causes cytopaenia and neuropathy and can be treated by copper supplementation. Long-term tube feeding, long-term total parenteral nutrition, intestinal resection and ingestion of zinc are known copper deficiency risk factors; however, alcohol abuse is not. In this case, a 71-year-old man had difficulty waking. He had a history of drinking more than five glasses of spirits daily. He was well until 3 months ago. A month before his visit to our hospital, he could not eat meals but continued drinking. He had macrocytic anaemia on admission. Copper and ceruloplasmin levels were markedly low, and we diagnosed copper deficiency. There were no other known risk factors for copper deficiency. After he began drinking cocoa as a copper supplement, the anaemia ameliorated and he was able to walk. This is the first report showing alcohol abuse as a risk factor for copper deficiency.
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Chronic subdural haematoma presenting as freezing of gait
In this report, we describe a case of freezing of gait (FOG) in a patient with chronic subdural haematoma (CSDH). An 81-year-old patient presented with progressive FOG about 6 weeks after a minor head trauma. MRI revealed CSDH in the left hemisphere, resulting in a marked compression of the hemisphere. His FOG disappeared after neurosurgical evacuation of the haematoma. It is suggested that the subdural haematoma in his left frontal cortices caused FOG. CSDH should be considered as a differential diagnosis when FOG develops after a head trauma in elderly patients, and prompt evaluations including neuroimaging and timely neurosurgical intervention are required.
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An unexpected complication following uterine artery embolisation
A 35-year-old nulliparous woman underwent uterine artery embolisation (UAE) for heavy menstrual bleeding and anaemia due to fibroids, refractive to medical and surgical treatment.
Bilateral UAE was performed after cephazolin prophylaxis and analgesia. Postoperatively, pain and abdominal bloating were prominent. Symptoms were initially treated as postembolisation syndrome, and analgesia was escalated. By the third day, pain was worsening and the woman developed marked tachypnoea and tachycardia, with raised inflammatory markers and lactate. An abdominal X-ray and CT showed dilated colon. A colonoscopy demonstrated severe mucosal ulceration down to the muscular layer.
A subtotal colectomy and end ileostomy formation was performed with intraoperative findings of toxic megacolon with near perforation. The cause of the toxic megacolon, in the absence of previous bowel pathology, was attributed to pseudomembranous colitis as a consequence of single dose prophylactic antibiotic.
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Pneumocephalus Following Self-Inflicted Penetrating Brain Injury
Objective. Pneumocephalus is a rare complication that often occurs after traumatic skull base injury, leading to morbidity and mortality. Material and Method. We present the case of a 42-year-old healthy man who injured himself when he stuck a metal stick into his left nasal cavity to relieve prolonged nasal obstruction. Immediate cerebrospinal fluid rhinorrhea and subsequent meningitis and pneumocephalus occurred later. He was presented at our hospital with fever and meningeal signs. Result. Computed tomography scans revealed left rhinosinusitis and air collection in the subarachnoid space. The patient received the conservative treatment of bed rest, intravenous hydration, head elevation, and broad-spectrum intravenous antibiotics. Pneumocephalus and meningitis resolved without any surgery, and he experienced no other sequela or complication. Conclusion. Pneumocephalus is a rare incidence and can lead to high morbidity and mortality. Prompt diagnosis and adequate treatment of pneumocephalus and meningitis proved beneficial for our patient who recovered without any complication or surgery.
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Efficacy and safety of the Janus Kinase 1 inhibitor PF-04965842 in patients with moderate to severe psoriasis: phase 2, randomized, double-blind, placebo-controlled study
Abstract
Background
PF-04965842 is an oral Janus Kinase 1 inhibitor being investigated for treatment of plaque psoriasis.
Objectives
To evaluate the efficacy, safety and tolerability of PF-04965842 in patients with moderate to severe plaque psoriasis.
Methods
Patients in this phase 2, placebo-controlled study (NCT02201524) were randomised to receive placebo, 200 mg once-daily (QD), 400 mg QD, or 200 mg twice-daily (BID) PF-04965842 for 4 weeks. The primary endpoint was change from baseline in Psoriasis Area Severity Index (PASI) at Week 4. Study enrolment was discontinued on 25 June 2015 due to changes in the sponsor's development priorities.
Results
Fifty-nine patients were randomised and received at least one dose of PF-04965842 or placebo. The estimated treatment effect (active-placebo PASI change from baseline) and 90% CI at Week 4 was –5·1 (–9·2, –1·0), –5·6 (–9·6, –1·6) and –10·0 (–14·2, –5·8) for the 200 mg QD, 400 mg QD and 200 mg BID groups, respectively. At Week 4, the proportion of patients achieving PASI75 was 17% for the placebo and 200 mg QD groups, 50% for the 400 mg QD group and 60% for the 200 mg BID group. There were more abnormal laboratory test results of clinical interest (low neutrophil, reticulocyte and platelet counts) in the 200 mg BID group vs the QD treatment groups. No serious infections or bleeding events related to neutropenia or thrombocytopenia, respectively, were reported.
Conclusions
These results suggest that treatment with PF-04965842 improves symptoms and is well tolerated in patients with moderate to severe psoriasis.
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Assessment of age- and sex-related changes in baggy lower eyelids using a novel objective image analysis method: Orbital gray scale analysis
Summary
Background
Baggy lower eyelids (BLEs) are a common aesthetic problem of aging. Valid and reliable assessment tools for BLEs are required to evaluate the current status and treatment outcome.
Aims
Age- and sex-related changes in BLEs were assessed with the orbital gray scale (OGS), a novel objective image analysis method.
Methods
We gathered frontal-view photographs of the faces of the patients who sought for correction of BLEs. Based on the clinical pattern, we classified the BLEs of the subjects into medial (M), medial and central (MC), and medial to lateral (MCL) types. Severity was evaluated using the OGS, a modified method of the linear gray scale analysis.
Results
The BLEs of 1034 subjects were classified. The most common types were MCL type in the men and MC type in the women, respectively. The M and MC types were common in the young subjects, whereas the MCL type was more common in the old subjects (P < .001). The measurements of OGS in 104 subjects showed positive correlation with age, a higher mean value in the men, and a trend toward higher values in the order of M, MC, and MCL types (P < .001 for central and lateral OGS scores). In a multiple linear regression analysis, central and lateral OGS values were significantly related with age, sex, and M-C-L classification type (P < .001).
Conclusion
The M-C-L classification and OGS were significantly associated with both age and sex, proving that they could be potent objective assessment tools for BLEs.
http://ift.tt/2xwOaDO
Developing and validating the CWARTS diagnostic tool, a novel clinical assessment and classification system for cutaneous warts
Abstract
Background
The clinical appearance of cutaneous warts is highly variable and not standardised.
Objectives
The aim of this study was to develop and validate a reproducible clinical tool for the standardised assessment of cutaneous warts to distinguish these lesions accurately.
Methods
Nine morphological characteristics were defined and validated regarding intra- and inter-observer agreement. Based on literature and semi-structured interviews, a systematic dichotomous assessment tool, the Cutaneous WARTS diagnostic tool (CWARTS diagnostic tool) was developed. The validation consisted of two independent parts performed with photographs from the recent WARTS-2 trial. In part A, the CWARTS diagnostic tool was tested by 28 experienced physicians who assessed photographs of 10 different warts to investigate inter-observer concordance. In part B, morphological characteristics were validated by blinded and independent scoring of 299 photographs by 6 different observers. Part B also entailed re-assessment of the photographs after at least 1 week. Primary outcome measurement was the intraclass correlation coefficient (ICC).
Results
Presence of black dots (capillary thrombosis) had the greatest ICC (0.85) for inter-observer agreement in part A, followed by arrangement (0.65), presence of border erythema(0.64) and sharpness of the border (0.60). In part B results were similar for inter-observer agreement with presence of black dots having the highest ICC (0.68), followed by border erythema (0.64), arrangement (0.58) and colour (0.55). For intra-observer agreement, presence of black dots had the highest agreement (0.69), followed by presence of border erythema (0.64) and colour (0.55).
Conclusions
The wart phenotype can be reliably assessed by the CWARTS diagnostic tool.
This article is protected by copyright. All rights reserved.
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Interferon alpha-induced non-immune thyrotoxicosis treated by plasmapheresis
Interferon-alpha (IFN-α) is an effective drug used for the treatment of chronic hepatitis C. So far its numerous side effects have been reported in the literature. It may be difficult to always put IFN-induced thyroid diseases into a single classic thyroid disease table. There are numerous atypical thyroid diseases due to IFN usage for hepatitis C virus. Herein, we present a case with a rare clinical table such as thyrotoxicosis observed following IFN-α therapy in a patient with euthyroid nodular thyroid without autoimmune thyroiditis findings and the use of therapeutic apheresis method for the treatment of disease.
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Young girl with severe early-onset obesity and hyperphagia
This case report of an infant with severe early-onset obesity illustrates the societal condemnation of persons with obesity. In addition, it underlines the importance of diagnosing rare forms of monogenic obesity, even if no drug treatment is available. Here, we describe a 2-year-old girl with severe progressive obesity from birth onwards due to insatiable hunger. Genetic studies eventually reveal that the girl has a monogenic form of obesity caused by two mutations in the LEPR gene. No drug treatment is available (as yet) for this disease. Parents describe the stigmatic remarks they have to deal with every day. Diagnosing this rare genetic disorder was very important for understanding that satiety regulation is a complex system, of which willpower is only a small portion. In these patients, reduction of obesity can be achieved, but a different approach to lifestyle intervention is needed.
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Wells syndrome associated with lung cancer
Wells syndrome (WS) or eosinophilic cellulitis is a rare, idiopathic, inflammatory dermatosis. The typical clinical presentation is urticarial plaque without preferential location that usually heals without scarring. We present a 62-year-old man with history of lung cancer that had undergone a right superior lobectomy 12 months previously. The patient had a relapsing dermatosis beginning about 6 months before the diagnosis of the lung cancer, characterised by pruritic, erythematous plaques located on the trunk and arms. These lesions spontaneously resolved within a few weeks without scarring. A skin biopsy revealed findings compatible with WS. Several diseases have been associated with WS. These include haematological diseases, fungal, parasitic and viral infections, drug reactions and rarely non-haematological malignancies. We present a case of this rare syndrome in a patient with history of lung cancer that we believe acted as a triggering event. To our knowledge, this is the second case reporting this association.
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Increased cholestatic enzymes in two patients with long-term history of ulcerative colitis: consider primary biliary cholangitis not always primary sclerosing cholangitis
Several hepatobiliary disorders have been reported in ulcerative colitis (UC) patients with primary sclerosing cholangitis (PSC) being the most specific. Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, rarely occurs in UC. We present two PBC cases of 67 and 71 years who suffered from long-standing UC. Both patients were asymptomatic but they had increased cholestatic enzymes and high titres of antimitochondrial antibodies (AMA)—the laboratory hallmark of PBC. After careful exclusion of other causes of cholestasis by MRI/magnetic resonance cholangiopancreatography (MRCP), virological and microbiological investigations, a diagnosis of PBC associated with UC was established. The patients started ursodeoxycholic acid (13 mg/kg/day) with complete response. During follow-up, both patients remained asymptomatic with normal blood biochemistry. Although PSC is the most common hepatobiliary manifestation among patients with UC, physicians must keep also PBC in mind in those with unexplained cholestasis and repeatedly normal MRCP. In these cases, a reliable AMA testing can help for an accurate diagnosis.
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From disability to ability: comprehensive rehabilitation providing a holistic functional improvement in a child with neglected neural tube defect
Neural Tube defects are one of the most common congenital disorders, presenting in a paediatric rehabilitation set-up. With its wide spectrum of clinical presentation and possible complications, the condition can significantly impact an individual's functional capacity and quality of life. The condition also affects the family of the child leaving them with a lifelong impairment to cope up with. Through this 16-year-old child, we shed light on the effects of providing rehabilitation, even at a later stage and its benefits. We also get a glimpse of difficulties in availing rehabilitation services in developing countries and the need to reach out many more neglected children like him with good functional abilities.
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Efficacy of oral vancomycin in recurrent primary sclerosing cholangitis following liver transplantation
Primary sclerosing cholangitis (PSC) is a liver disease that leads to progressive destruction and stricturing of the biliary tree. Unfortunately, apart from orthotopic liver transplantation (OLT), there are no universally accepted therapies to treat this disease. Even following transplantation, recurrence of PSC is seen in approximately one quarter of patients and leads to high rates of graft failure. Oral vancomycin, through possible immunomodulatory and anti-inflammatory mechanisms, has been shown in small-scale studies to be successful in improving liver function tests in patients with pretransplant PSC. We report the first case of an adult patient diagnosed with recurrent PSC 4 years after OLT who was treated with oral vancomycin leading to complete normalisation of his liver biochemistry. This case adds to the growing literature of a potential therapeutic role for this antibiotic in PSC and highlights interesting questions regarding mechanisms of disease.
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Thoracic manifestations of segmental neurofibromatosis
Description
A non-smoking 57-year-old female presented with long-standing mild dyspnea and dry cough. Her medical history was remarkable for a subcutaneous right cervical nodule which corresponded pathologically to a neurofibroma. There were no other signs for type 1 neurofibromatosis as she had no family history of neurofibromatosis, no «café au lait» macules, no axillary or groin freckling, no plexiform neurofibroma, no cutaneous/subcutaneous neurofibroma and no Lisch nodules. Genetic testing for the Neurofibromin 1 (NF1) gene mutations was negative. MRI of the brain, spine and pelvis was normal, except for the right cervical neurofibroma measuring 4.5 cm in greatest diameter. Pulmonary function tests showed no obstructive or restrictive pattern. The chest radiograph demonstrated enlargement of the upper mediastinum with bilateral non-cavitating lobulated opacities (figure 1). Thoracic CT scan showed multiple bilateral round and non-compressive nodules and masses in the superior, anterior and posterior mediastinum, along with mediastinal lymphadenopathies (
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Spontaneous non-obstructive nephropleural fistula with an autoimmune disorder causing massive urinothorax: a rare association
Urinothorax, an unusual and rare cause of pleural effusion, is usually secondary to urinary obstruction and abdominal trauma. We describe an uncommon case of left-sided urinothorax in a 35-year-old man with diabetes and hypothyroidism associated with an autoimmune disorder without obvious obstructive uropathy. Workup revealed pancytopenia, mild proteinuria, positive anti-nuclear and anti-dsDNA antibodies suggestive of probable systemic lupus erythematosus. Contrast-enhanced CT-chest and abdomen showed hepatosplenomegaly with bilateral renal abscesses and a fistulous connection between left superior calyx and left the pleural cavity. Patient was initially managed by intravenous antibiotics, intercostal tube drainage and ipsilateral double-J stent placement. The definitive management in the form of closure of nephropleural fistula was achieved with sclerotherapy using 0.1% povidone-iodine instillation, while oral steroids were started for the probable autoimmune disorder. To the best of our knowledge, this is the first case of spontaneous non-obstructive nephropleural fistula associated with an autoimmune disorder, managed by minimally invasive methods.
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Merkel cell carcinoma cardiac metastasis causing cardiac tamponade
We describe an unusual presentation of Merkel cell carcinoma (MCC), a rare neuroendocrine cutaneous tumour. A 59-year-old man presented with a 2-week history of dyspnoea on a background of MCC of the left elbow that was diagnosed after an axillary lymph node metastasis had appeared. He was clinically diagnosed with cardiac tamponade and received urgent pericardiocentesis. Thoracic CT imaging revealed a large infiltrating mass within the inferior aspect of the heart, confirmed to be MCC via immunohistochemistry of the pericardial fluid. On review of prior fluorine-18 fluorodeoxyglucose positron emission tomography (FDG-PET) imaging, avid uptake was evident at the corresponding site of disease. This case has several important illustrative aspects, including the clinical manifestations of cardiac metastases, the challenges of MCC histopathological diagnosis and the role of imaging (in particular FDG-PET) in this aggressive disease.
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Occult tibial plateau fracture
Description
An 86-year-old woman presented to the emergency department with diffuse left knee pain from a fall from standing height. Anteroposterior and lateral X-ray of the left knee revealed no evidence of a fracture (figure 1A). However, MRI study revealed left tibial plateau fracture (coronal T2-weighted fast field echo imaging (figure 1B) and coronal proton density-weighted fast spin echo imaging (figure 1C). She was hospitalised for severe left knee pain and was given restrictions on weight-bearing activity for 2 weeks. She achieved good functional outcomes at a 6-month follow-up.
Figure 1
(A) An anteroposterior projection of left knee demonstrated no evidence of fracture. (B) MRI (coronal T2-weighted fast field echo imaging) revealed left tibial plateau fracture. (C) MRI (coronal proton density-weighted fast spin echo imaging) revealed left tibial plateau fracture.
Occult tibial plateau fractures are not be easily diagnosed...
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Use of Smartphone Funduscopy to aid Diagnosis of chorioretinitis after donor-recipient mismatched cardiac transplantation
Description
A 52-year-old man was referred for an ophthalmological opinion after becoming generally unwell and developing reduced vision in the left eye. He had had a cardiac transplant 6 months prior and was being followed up on an outpatient basis. Unfortunately, he was too unwell to be transferred to the ophthalmology department; bedside examination in intensive care found vision to be 6/60 with two retinal lesions and vitritis in the left eye.
Infection screening found PCR positivity for toxoplasmosis and cytomegalovirus (CMV). A myocardial biopsy revealed intramyocardial cysts consistent with toxoplasmosis infection. The recipient was seronegative for toxoplasmosis, but the donor was positive. Both the donor and recipient were seropositive for CMV. The patient had received pretransplant prophylaxis treatment but this was stopped before the course finished due to intolerance. Clinically, the findings were not fully consistent with either ocular toxoplasmosis or CMV infection.
With the patient's consent, funduscopic documentation was...
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Digital ischaemia after intra-arterial drug injection
Description
A 62-year-old man presented with recurrent episodes of left-sided digital ischaemia (figure 1). His history was significant for chronic back pain and prescription opiate use. One year previously, he had an episode of ischaemia involving the left hand, requiring amputation of the left thumb and index finger. One month prior, he developed ischaemic digits of the left foot. Extensive serological evaluation of causes of vasculitis and thrombosis was negative. Left upper extremity arteriography demonstrated obstruction of the radial and interosseous arteries (figure 2). The ulnar artery was hypertrophied, suggesting a chronic process. Biopsy of the radial artery revealed polarisable microcrystalline cellulose pill filler material embedded in remote and subacute thrombus (figure 3). When informed of this finding, the patient acknowledged repeated injection of crushed hydromorphone tablets into his arteries over a period of several months after losing venous access. He underwent...
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Retinal haemorrhages: a clue to the underlying leukaemia
A 40-year-old man presented with a sudden onset of diminution of vision in his left eye for 2 days. Anterior segment of both eyes was within normal limits. Right eye retinal evaluation was normal. However, the left eye retinal evaluation showed isolated subinternal limiting membrane haemorrhage at the fovea along with a white-centred haemorrhage above the fovea. There was no antecedent history of trauma or valsalva. He was normotensive and his glycaemic status was also normal. His blood investigations along with peripheral smear were done, which helped to clinch the diagnosis of an underlying chronic myeloid leukaemia.
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A clicking larynx: Diagnostic and therapeutic challenges
A clicking larynx can be described as a clicking sensation in the neck on swallowing or when moving the head, often associated with a tender or painful area in the neck. Diagnosis and therapy are challenging. In this article, we present a case report and overview of the current literature. The clicking larynx most often is reported to be a result of a displaced cornu superior of the thyroid cartilage, an enlarged greater cornu of the hyoid bone, or a short distance between the thyroid cartilage and hyoid bone. If a possible cause is identified, surgery can be offered to the patient, although an explanation of the possible underlying anatomical cause also could be satisfying for the patient and avert surgery. Laryngoscope, 2017
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