Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Σάββατο 12 Μαΐου 2018

Inhaltsverzeichnis



https://ift.tt/2KU6soO

Kontaktdermatitis durch Kräuter-Externa: Patch-Tests am besten mit Patientenprodukten

Perubalsam und Kompositenextrakte sind die häufigsten Auslöser von Kontaktdermatiden gegen pflanzliche Topika. In einer retrospektiven Analyse suchten belgische Dermatologen nach typischen Merkmalen allergischer Hautreaktionen gegen Kräutersalben.



https://ift.tt/2G7Rh85

Acrodermatitis chronica atrophicans



https://ift.tt/2KZtmvg

Tipps: Formulare weg? Das ist zu tun!



https://ift.tt/2GbGlWP

Normale Blutfette — aber überall Xanthome



https://ift.tt/2KU6mxs

Köbner-Phänomen nach EKG



https://ift.tt/2GebPMk

Was tun bei antibiotikaresistenter Impetigo contagiosa?



https://ift.tt/2KVFxJe

Malignes Melanom: Ein Drittel lebt nach zwei Jahren noch

Die neuen Melanomtherapeutika ermöglichen vielen Betroffenen eine relativ lange Überlebenszeit. Wie es mit den Überlebenszeiten unter klinischen Alltagsbedingungen aussieht, hat ein Team aus Deutschland geprüft.



https://ift.tt/2G7R4lj

Prävention: gezielte Kampagnen zum UV-Schutz gefordert

Junge Männer sowie Personen mit niedrigem Bildungsstand oder Migrationshintergrund gehen einer Studie zufolge besonders sorglos mit ihrer Haut um. Möglicherweise mangelt es diesen Gruppen an zielgerichteter Information zu den Folgen ausgiebiger Sonnenexposition.



https://ift.tt/2jQmdAO

Haben Sie auch eine fachliche Frage?



https://ift.tt/2G7R0C5

Einführung von Samstagsarbeit rechtens

Bei Verträgen, die zur Arbeit während der „praxisüblichen Sprechstundenzeiten" verpflichten, können Arztpraxen ihre Mitarbeiter im Falle geänderter Öffnungszeiten auch zum Samstagsdienst bestellen: Samstagsarbeit kann auch nach Arbeitsvertragsschluss betriebsüblich werden, hat nun das Landesarbeitsgericht Mainz entschieden.



https://ift.tt/2KU6i0G

Rezepte gestohlen? Schadenersatz droht!

Werden Rezepte und Stempel aus der Praxis geklaut, sind Schadenersatzansprüche gegen Ärzte durchaus möglich — vorausgesetzt, diese haben ihre Sorgfaltspflicht verletzt.



https://ift.tt/2KjmI1M

Kein Nachteil durch Wechsel zwischen Biosimilar und Originator

Die Sorge, bei Therapieumstellungen vom Originalbiologikum auf ein Nachahmerpräparat — und umgekehrt — könnten Wirksamkeit und Sicherheit leiden, ist für das Etanercept-Biosimilar GP2015 offenbar unbegründet.



https://ift.tt/2IF0UR7

Am Unterarm entsteht ein knotiger Strang



https://ift.tt/2wzXx8Z

Seltsame Schwarzfärbungen am ganzen Körper



https://ift.tt/2IyPJZV

Alopecia areata: Eine Autoimmunerkrankung kommt selten allein

Die Alopecia areata rangiert auf Platz drei der häufigsten Dermatosen im Kindesalter. Trotzdem weiß man derzeit wenig über Klinik und Epidemiologie. Neue Daten liefert nun eine Erhebung aus den USA. Diese besagt unter anderem, dass offenbar mehr Mädchen als Jungen erkranken.



https://ift.tt/2wxOGop

Medikamentöse Auswirkungen auf die männliche Fertilität



https://ift.tt/2IxG0mR

Hohe UV-Belastung im Job verdoppelt Risiko für Plattenepithelkarzinome

Die berufliche UV-Exposition scheint weitaus mehr zum Risiko für Plattenepithelkarzinome beizutragen als die Exposition außerhalb des Arbeitslebens. Neuesten Untersuchungen zufolge könnte die UV-Exposition im Beruf sogar der Hauptrisikofaktor für die SCC-Entstehung sein. Darauf deutet eine Studie hin, an der acht deutsche Universitäten beteiligt waren.



https://ift.tt/2wwFIHU

„Medizin für Menschen und nicht für Maschinen“



https://ift.tt/2IC9m3j

Kachexie bei Tumorerkrankungen



https://ift.tt/2KjmDeu

Anti-neuroinflammatory effects of 20C from Gastrodia elata via regulating autophagy in LPS-activated BV-2 cells through MAPKs and TLR4/Akt/mTOR signaling pathways

S01615890.gif

Publication date: July 2018
Source:Molecular Immunology, Volume 99
Author(s): Qian-hang Shao, Xiao-ling Zhang, Ying Chen, Cheng-Gen Zhu, Jian-Gong Shi, Yu-he Yuan, Nai-hong Chen
20C, a novel bibenzyl compound, is isolated from Gastrodia elata. In our previous study, 20C showed protective effects on tunicamycin-induced endoplasmic reticulum stress, rotenone-induced apoptosis and rotenone-induced oxidative damage. However, the anti-neuroinflammatory effect of 20C is still with limited acquaintance. The objective of this study was to confirm the anti-neuroinflammatory effect of 20C on Lipopolysaccharide (LPS)-activated BV-2 cells and further elucidated the underlying molecular mechanisms. In this study, 20C significantly attenuated the protein levels of nitric oxide synthase (iNOS), cyclooxygenase-2 (COX-2) and interleukin (IL)-1β, and secretion of nitric oxide (NO) and tumor necrosis factor (TNF)-α induced by Lipopolysaccharide (LPS) in BV-2 cells. Moreover, 20C up-regulated the levels of autophagy-related proteins in LPS-activated BV-2 cells. The requirement of mitogen-activated protein kinases (MAPKs) has been well documented for regulating the process of autophagy. Both 20C and rapamycin enhanced autophagy by suppressing the phosphorylation of MAPKs signaling pathway. Furthermore, 20C treatment significantly inhibited the levels of toll like receptor 4 (TLR4), phosphorylated-protein kinase B (Akt) and phosphorylated-mechanistic target of rapamycin (mTOR), indicating blocking TLR4/Akt/mTOR might be an underlying basis for the anti-inflammatory effect of 20C. These findings suggest that 20C has therapeutic potential for treating neurodegenerative diseases in the future.



https://ift.tt/2KRTWGB

Antigen presentation unfolded: identifying convergence points between the UPR and antigen presentation pathways

Fabiola Osorio | Bart N Lambrecht | Sophie Janssens

https://ift.tt/2rEpTtP

Middle-ear disease in children with cleft palate

The objective of this review is to summarize all aspects of middle ear diseases in children with cleft palate (CP).

https://ift.tt/2IAzNXa

Bone-borne surgically assisted rapid maxillary expansion: A retrospective three-dimensional evaluation of the asymmetry in expansion

Asymmetrical expansion occurs in patients treated with Surgically Assisted Rapid Maxillary Expansion (SARME). In the clinical setting, this asymmetrical expansion is seen in multiple directions. However, the frequency, actual directions and amount of asymmetry are unclear. Hence, the aim of this study was to analyze the directions and amount of asymmetrical lateral expansion in non-syndromic patients with transversal maxillary hypoplasia on employing bone-borne transpalatal distraction by means of SARME.

https://ift.tt/2KVrpji

Computer-aided design of facial prostheses by means of 3D-data acquisition and following symmetry analysis

The aim of this study was to investigate whether a method of designing digital models of facial prostheses was suitable for patients with orbital defects. 32 patients were included in a retrospective study. 23 of them already had a facial prosthesis. 3D-data of the faces were acquired optically using fringe projection technique without and with (if available) the facial prosthesis in place. The healthy side of the surface models was mirrored to reconstruct the defect area. By generating a NURBS-model, the edges of the virtual prostheses were adapted to the defect region.

https://ift.tt/2Gbhu5y

Fibrous dysplasia imitating malignancy

Fibrous dysplasia is a benign bone disease, presenting as monostotic or polyostotic lesions, or as part of a syndrome (McCune-Albright/Mazabraud). Its clinical course shows a variegated picture and the progression of its growth is unpredictable. In the workup of 39 fibrous dysplasia cases in the cranio-facial area, four cases presented fast growth tendencies, of which two patients with McCune-Albright syndrome showed malignant-like rapid growth. This local aggressive form is extremely rare, and the concept of this issue has not been clearly defined.

https://ift.tt/2KVkSFj

Primary thyroid angiosarcoma: A systematic review

S13688375.gif

Publication date: July 2018
Source:Oral Oncology, Volume 82
Author(s): F. De Felice, E. Moscatelli, S. Orelli, N. Bulzonetti, D. Musio, V. Tombolini
Thyroid angiosarcoma (TAS) is rare and represents a very aggressive malignancy. Its rarity is principally linked to two major pitfalls. Firstly, TAS histopathology diagnosis can be difficult; second, the limited clinical experience with this condition can make its management complex.We conducted a detailed systematic review, focusing on the knowledge available regarding TAS etiopathogenesis, treatment options and prognosis. The aim is to present the main TAS characteristics and to summarize the clinical experiences described worldwide, in order to provide a useful clinical tool.



https://ift.tt/2rz63PU

An unusual finding in a desmoid-type fibromatosis of the pancreas: a case report and review of the literature

Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rar...

https://ift.tt/2KV7pxf

The Persian version of auditory word discrimination test (P-AWDT) for children: Development, validity, and reliability

Publication date: July 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 110
Author(s): Nassim Hashemi, Ali Ghorbani, Zahra Soleymani, Mohmmad Kamali, Zohreh Ziatabar Ahmadi, Saeid Mahmoudian
ObjectiveAuditory discrimination of speech sounds is an important perceptual ability and a precursor to the acquisition of language. Auditory information is at least partially necessary for the acquisition and organization of phonological rules. There are few standardized behavioral tests to evaluate phonemic distinctive features in children with or without speech and language disorders. The main objective of the present study was the development, validity, and reliability of the Persian version of auditory word discrimination test (P-AWDT) for 4-8-year-old children.MethodsA total of 120 typical children and 40 children with speech sound disorder (SSD) participated in the present study. The test comprised of 160 monosyllabic paired-words distributed in the Forms A-1 and the Form A-2 for the initial consonants (80 words) and the Forms B-1 and the Form B-2 for the final consonants (80 words). Moreover, the discrimination of vowels was randomly included in all forms. Content validity was calculated and 50 children repeated the test twice with two weeks of interval (test–retest reliability). Further analysis was also implemented including validity, intraclass correlation coefficient (ICC), Cronbach's alpha (internal consistency), age groups, and gender.ResultsThe content validity index (CVI) and the test-retest reliability of the P-AWDT were achieved 63%–86% and 81%-96%, respectively. Moreover, the total Cronbach's alpha for the internal consistency was estimated relatively high (0.93). Comparison of the mean scores of the P-AWDT in the typical children and the children with SSD revealed a significant difference. The results revealed that the group with SSD had greater severity of deficit than the typical group in auditory word discrimination. In addition, the difference between the age groups was statistically significant, especially in 4–4.11-year-old children. The performance of the two gender groups was relatively same.ConclusionThe comparison of the P-AWDT scores between the typical children and the children with SSD demonstrated differences in the capabilities of auditory phonological discrimination in both initial and final positions. It supposed that the P-AWDT meets the appropriate validity and reliability criteria. The P-AWDT test can be utilized to measure the distinctive features of phonemes, the auditory discrimination of initial and final consonants and middle vowels of words in 4-8-year-old typical children and children with SSD.



https://ift.tt/2IbvAd9

Tonsillar antimicrobial peptide (AMP) expression profiles of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) patients

Publication date: July 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 110
Author(s): Umut Gazi, Martha Emmanuel Agada, Hanife Ozkayalar, Ceyhun Dalkan, Burcin Sanlidag, Mustafa Asım Safak, Gamze Mocan, Nerin Onder Bahceciler
IntroductionPFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most frequent non-infectious cause of high fever observed among the European child population. While its cause is still not yet fully identified, PFAPA patients were previously shown to have altered tonsillar microbiome composition. Our study hypothesized that this is associated with a change in antimicrobial peptide (AMP) expression levels, as in the case of Crohn's disease which is another autoinflammatory disorder.Methods and materialsThe tonsil specimens were isolated from seven patients with PFAPA syndrome, and six patients with group A beta-hemolytic streptococcal (GAβHS) recurrent tonsillitis. Tonsillar expression levels of human beta-defensin 1-2, cathelicidin, ribonuclease-7, and liver expressed antimicrobial peptide-1 were monitored by immunohistochemistry (IHC). Expression levels were scored using semi-quantitative analysis method and were statistically analyzed by Two-Way Repeated Measures Analysis of Variance test.ResultsOur results showed no significant difference in AMP expression levels between PFAPA and GAβHS patients. Immunolocalization of human beta-defensin 1 was different between the two groups; expressed at higher levels on tonsil surface epithelium (SE) than lymphoid interior (LI) in PFAPA patient group, while this was not evident in GAβHS patients group.ConclusionsOur results suggest that, PFAPA patients may be associated with altered AMP expression as in other autoinflammatory diseases. Future studies with subjects without any inflammatory condition are required for more precise conclusions.



https://ift.tt/2IiAuRp

Editorial board

alertIcon.gif

Publication date: May 2018
Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 5





https://ift.tt/2jS7WUA

Publication date: May 2018 Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 5 ...

alertIcon.gif

Publication date: May 2018
Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 5





https://ift.tt/2Ij048Q

Penetrating Neck Injuries: from ER to OR

Abstract

Neck contains several vital structures, in a small close space, in complex relationship to each other, and unprotected by any bony framework. Any injury to this crucial region, hence mostly becomes an acute emergency. Appropriately managing the same has always been a point of constant discussion amongst head and neck surgeons. The basic aim of the study was to discuss the management, comorbidities, prognosis and associated complications encountered in a series of patients with penetrating neck trauma (piercing platysma), presenting to the emergency over a period of 1 year. Combat injuries and patients declared as brought dead at the time of first examination were excluded. This was a retrospective study of patients with cut throat injury, managed at a tertiary center of northern India from June 2014 to September 2015. Following management in the ER as per ATLS guidelines, all patients were then operated for specific injuries. Graph pad software was used for statistical analysis. Of the 15 patients studied in total, 11 (73.3%) were males. The mean patient age was 33.67 years. Mean duration of presentation was 20.85 h. 60% patients had homicidal injuries. Tracheostomy and Ryle's tube insertion was done in 8 (53.3%) patients. Exploration and surgical repair was done in all patients without any mortality. 4 patients developed post-operative complications. Mean duration of hospital stay was 9.2 days. Immediate resuscitation followed by exploration and primary repair is a must in all patients of penetrating neck injury.



https://ift.tt/2KVkIO8

Penetrating Neck Injuries: from ER to OR

Abstract

Neck contains several vital structures, in a small close space, in complex relationship to each other, and unprotected by any bony framework. Any injury to this crucial region, hence mostly becomes an acute emergency. Appropriately managing the same has always been a point of constant discussion amongst head and neck surgeons. The basic aim of the study was to discuss the management, comorbidities, prognosis and associated complications encountered in a series of patients with penetrating neck trauma (piercing platysma), presenting to the emergency over a period of 1 year. Combat injuries and patients declared as brought dead at the time of first examination were excluded. This was a retrospective study of patients with cut throat injury, managed at a tertiary center of northern India from June 2014 to September 2015. Following management in the ER as per ATLS guidelines, all patients were then operated for specific injuries. Graph pad software was used for statistical analysis. Of the 15 patients studied in total, 11 (73.3%) were males. The mean patient age was 33.67 years. Mean duration of presentation was 20.85 h. 60% patients had homicidal injuries. Tracheostomy and Ryle's tube insertion was done in 8 (53.3%) patients. Exploration and surgical repair was done in all patients without any mortality. 4 patients developed post-operative complications. Mean duration of hospital stay was 9.2 days. Immediate resuscitation followed by exploration and primary repair is a must in all patients of penetrating neck injury.



https://ift.tt/2KVkIO8

Cholestatic jaundice: a unique presentation leading to the diagnosis of HLH with Hodgkin lymphoma, HIV and EBV

Haemophagocytic lymphohistiocytosis (HLH) is a syndrome of dysregulated immune activity with macrophage activation that can manifest as pancytopenia, coagulopathy and other laboratory abnormalities, usually progressing to multiorgan failure and death. This report documents the rarely reported association between HLH and Hodgkin's lymphoma (HL) with simultaneous HIV and Epstein-Barr virus (EBV) and complete resolution with chemotherapy. The patient initially presented with cholestatic jaundice. He was then found to have HL associated with HLH with coexistent HIV and EBV viraemia. A-Brentuximab-VD regimen for the lymphoma was initiated, resulting in rapid resolution of HLH and ultimately remission of HL. HLH is a syndrome known to have high mortality; thus, early diagnosis and prompt treatment are crucial. Usual presentation includes non-specific symptoms and can easily be overlooked. This case highlights the importance of diagnosing the condition in unusual settings and attempting treatment by targeting the cause of HLH, HL in our case.



https://ift.tt/2jPtscj

Lateral semicircular canal osteoma presenting as chronic postaural fistula

Temporal bone osteoma is an unusual pathology which can occur by birth or can be acquired and mostly involves the tympanomastoid segment of the temporal bone. Osteomas arising from the otic capsule are extremely rare, and there has been only one other report of a lateral semicircular canal osteoma in the literature. We report a similar case of an acquired lateral canal osteoma which presented as a chronic postaural fistula in an ear previously operated for paediatric cholesteatoma.



https://ift.tt/2IiMZfK

Granuloma formation associated with patellar tendon necrosis in response to Ethibond confirmed by histopathological examination

The aim of this study is to describe a case of delayed granuloma formation associated with tendon necrosis in response to Ethibond confirmed by histopathological examination and to review and discuss the related literature. A 40-year-old woman underwent a patellar tendon repair with Krakow-like #5 Ethibond sutures. Four years after the repair, she noticed progressive soreness with knee extension and swelling. An ultrasound examination revealed a proximal partial patellar tendon rupture. Based on these findings, the patient was advised to undergo surgical intervention due to a diagnosis of re-rupture. Tendinosis, fibrosis and necrosis scar tissue surrounding the previous suture were observed and excised, and samples were sent for histopathological and microbiological examination. Stripping of the patellar paratenon was performed. Surprisingly, a giant cell foreign body reaction surrounding the synthetic refringent material, as well as polymorphonuclear cells surrounding the necrotic tendon, was reported.



https://ift.tt/2jPtoJB

Unravelling the NERDS syndrome

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Haematological investigations revealed eosinophilia and skin biopsy had cutaneous eosinophilic infiltration. The constellation of above findings comprises the nodules, eosinophilia, rheumatism, dermatitis and swelling syndrome. It a rare syndrome with few reported cases in literature. The patient was started on oral corticosteroids which was subsequently tapered and methotrexate therapy. His polyarthritis and skin rashes resolved with therapy. He has been followed-up for 2 years and is presently asymptomatic for the last 1 year.



https://ift.tt/2Ier9dq

Urothelial carcinoma of an allograft ureter 10 years after deceased donor kidney transplantation

The incidence of urothelial carcinoma (UC; formerly transitional cell carcinoma) is higher among renal transplant recipients compared with the general population. Upper urinary tract UC (UUT-UC) of allograft urothelium is a rare event with approximately 40 cases reported in the literature. Herein, we describe the clinical presentation and management of UUT-UC in a transplant ureter 10 years after deceased donor kidney transplantation.



https://ift.tt/2jSvBnK

Improvement of primary biliary cholangitis (PBC) under treatment with sulfasalazine and abatacept

Description

A 51-year-old female patient was diagnosed with primary biliary cholangitis (PBC) in 2012 and rheumafactor-positive, Anti-citrullinated protein antibodies (ACPA)-positive rheumatoid arthritis (RA) in 2013. The diagnosis of a PBC was confirmed by liver biopsy showing portal inflammatory infiltrates with non-suppurative inflammatory lesions of the biliary duct (figure 1). PBC has been treated with ursodeoxycholic acid since 2012.

Figure 1

Dense lymphocytic infiltrates in portal tracts affecting small portal bile ducts, moderate lobular infiltrates.

After diagnosis of RA (initial Disease Activity Score 28 (DAS 28)=6.43), therapy was initiated with leflunomide 20 mg/day and low-dose oral glucocorticoids, tapered from 20 mg/day to zero over 12 weeks. Remission was reached within 4 months (DAS 28=1.84). However, elevated transaminases were detected. As a consequence, leflunomide was switched to sulfasalazine in September 2013. After an increase of activity of RA under sulfasalazine, abatacept 750 mg every 4 weeks was...



https://ift.tt/2IfEhPB

Cavernous sinus meningioma presenting as third nerve palsy in pregnancy

A 33-year-old female patient presented with diplopia and left eye ptosis 26 weeks into her first pregnancy. No investigation was conducted at the time and her symptoms subsided 4 weeks post partum. This same phenomenon occurred during second pregnancy at 20 weeks of gestation, with patient becoming symptom-free again 6 weeks after giving birth. MRI revealed a lesion in the left cavernous sinus in keeping with a meningioma. Due to the surgically challenging location, the lesion was treated with gamma knife radiosurgery. To date, the patient remains asymptomatic with no progression on follow-up imaging 9 years on.



https://ift.tt/2Icr4Lm

Fibrosing mediastinitis-related pulmonary artery and vein stenosis-limiting chemotherapy

Description

A 74-year-old woman presented for second opinion of dyspnoea management. Her medical history included breast cancer treated with mastectomy, doxorubicin, cyclophosphamide and tamoxifen. She developed recurrent metastatic disease in the mediastinum, managed with 89 six-week cycles of paclitaxel over 10 years that was well tolerated and effective in stabilising the disease initially but eventually discontinued due to new sternal metastasis diagnosed on imaging and increasing dyspnoea. Examination revealed diminished left-sided breath sounds. Routine labs were normal. Echocardiogram showed normal left ventricular function and dilated right chambers. Repeat chest CT demonstrated: (1) extensive calcification and soft tissue mass in the anterior mediastinum consistent with fibrosing mediastinitis (FM);  (2) severe left pulmonary artery stenosis (PAS, figure 1); and (3) an infiltrating soft tissue density in the pericardium. Subsequent pericardial tissue biopsy showed non-specific fibrosis. Pulmonary angiography showed bilateral PAS. Angiographic and surgical interventions were deferred due to...



https://ift.tt/2IeTnoi

Recovery of brain abscess-induced stuttering after neurosurgical intervention

Stuttering occurs in approximately 5% of all children and 1% of adults. One type, neurogenic stuttering, is usually attributable to strokes or other structural damages to the brain areas that are responsible for language fluency. Here, we present the first case of neurogenic stuttering caused by a brain abscess. The patient was a 60-year-old man admitted for a seizure and administered an anticonvulsant, after which he began stuttering. MRI revealed a brain abscess in the left frontal lobe that extended to the dorsolateral prefrontal cortex (BA (Brodmann's area) 9 and 46), frontal eye field (BA 8) and premotor cortex and supplementary motor area (BA 6). After neurosurgical drainage and antibiotic treatment, the symptoms had resolved. This case is unique in that the therapeutic effects and localisation of the cause of stuttering were rapidly identified, allowing for a more accurate description of the neural circuitry related to stuttering.



https://ift.tt/2jPtild

Unusual cause of brachial palsy with diaphragmatic palsy

We report a preterm neonate born with respiratory distress. The neonate was found to have diaphragmatic palsy and brachial palsy. The neonate was born by caesarean section and there was no history of birth trauma. On examination, there was bilateral congenital talipes equinovarus and a scar was present on the forearm. The mother had a history of chickenpox during the 16 weeks of pregnancy for which no treatment was sought. On investigation, PCR for varicella was found to be positive in the neonate.



https://ift.tt/2IfEbHJ

Solitary calvarial haemangioma presenting as metastatic renal cell carcinoma

Renal cell carcinoma is the most common renal tumour in adult that often metastasises to the lung, liver or bone. Head and neck lesions are uncommon with no early warning signs and presents with overt metastases at primary presentation in 25%–30% of reported cases. The incidence of haemangiomas that suggest malignancy are similar to that of bone metastasis. Calvarial haemangiomas usually present as asymptomatic and discovered incidentally on imaging or postmortem examination. We report a case where an initial diagnosis of benign tumour of the skull was made based on clinical presentation and calvarial haemangioma on CT head but was confirmed as metastatic clear cell carcinoma of the kidney after histopathological results. Skull metastases are rare and present late in the course of the disease. It is unusual for metastatic lesion to be the primary presentation in a clinically silent renal cell carcinoma.



https://ift.tt/2I9gkxe

Dichorionic twins discordant for body-stalk anomaly: a management challenge

Body-stalk anomaly is a sporadic and rare maldevelopment disorder characterised by large abdominal wall defect, spinal deformity and rudimentary umbilical cord. It is considered a lethal condition as there are only few reports of survival but there was at least one case of long-term survival after neonatal surgery.

Differential diagnosis includes isolated omphalocele or gastroschisis, short umbilical cord, amniotic band, limb body-wall complex and other polymalformative syndromes.

There are few reports about the expectant prenatal management of the body stalk anomaly as the majority of prenatal diagnosed cases undergo early elective termination. Twin pregnancies discordant for the anomaly represent a challenge to prenatal management as a healthy fetus should also be considered.

We describe a case of dichorionic-diamniotic twins discordant for body stalk anomaly which underwent selective feticide of the affected fetus late in pregnancy, in accordance with parents' decision focused on the neonatal well-being of the unaffected twin.



https://ift.tt/2IfE8M3

Surprising pathological and clinical manifestations of miliary tuberculosis

We report a surprising pathological finding of miliary tuberculosis (TB) in a 49-year-old Chuukese, immunocompetent woman who was initially admitted to the hospital for a 1-month duration of chronic abdominal pain and intermittent fevers. Her clinical symptoms did not improve despite treatment with vancomycin and piperacillin–tazobactam. Based on the primary abdominal CT findings suggesting advanced ovarian cancer with omental metastatic disease, further workup with omental core biopsy was performed and demonstrated acute neutrophilic necrosis without malignant cells or granulomata. Within the omental tissue, however, many organisms stained positive for acid-fast bacilli despite lack of typical granulomata. The diagnosis of genitourinary TB was confirmed by urine Mycobacterium tuberculosis/rifampin automated molecular rapid nucleic acid amplification test. The chest CT showed a millet seed pattern of infiltration which is a hallmark for miliary TB. After initiation of multidrug TB therapy, her fever and abdominal pain drastically improved.



https://ift.tt/2jSvR62

Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies

Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.



https://ift.tt/2IgAu4G

Disseminated cryptococcosis in HIV negative patient

A 52-year-old white diabetic male with 4-weeks history of persistent cough followed by headache, drenching night sweats, low-grade fever, worsening photophobia, nausea and vomiting was presented. Examination was significant for photophobia and diminution of vision. His spinal fluid and blood cultures were positive for Cryptococcus neoformans. Intravenous fluconazole were given for 2 weeks followed by oral fluconazole. There was significant improvement in systemic and ocular symptoms. HIV serology was negative, but his CD4 counts were low with inverted CD4:CD8 ratio.



https://ift.tt/2jSUJLc

An interesting case of lymphadenopathy

Description

A 43-year-old man, a known case of diabetes mellitus and hypertension (both well controlled), with no history suggestive of high-risk sexual behaviour, presented with a painless swelling over the left side of the neck since 30 days which was insidious in onset and gradually progressive; fever since 15 days which was of sudden onset, intermittent, relieved with medications and was associated with generalised bodyache; diarrhoea since 3 days which was sudden in onset, foul smelling, watery, non-bloody, 7–8 episodes per day. He had lost 4 kg of weight in 15 days. He was a vegetarian, did not keep cats as pets and was not known to be having an immunocompromised state.

On clinical examination, only the lymph nodes in the posterior triangle of the left side of the neck were palpable. These were non-tender and were not matted.

Investigations showed anti-toxoplasma antibodies IgM and IgG (done by ELISA...



https://ift.tt/2Ifu4CP

Genetic variants in the HLA class II region associated with risk of cutaneous squamous cell carcinoma

Abstract

Background

The immune system has been implicated in the pathophysiology of cutaneous squamous cell carcinoma (cSCC) as evidenced by the substantially increased risk of cSCC in immunosuppressed individuals. Associations between cSCC risk and single nucleotide polymorphisms (SNPs) in the HLA region have been identified by genome-wide association studies (GWAS). The translation of the associated HLA SNPs to structural amino acids changes in HLA molecules has not been previously elucidated.

Methods

Using data from a GWAS that included 7238 cSCC cases and 56,961 controls of non-Hispanic white ancestry, we imputed classical alleles and corresponding amino acid changes in HLA genes. Logistic regression models were used to examine associations between cSCC risk and genotyped or imputed SNPs, classical HLA alleles, and amino acid changes.

Results

Among the genotyped SNPs, cSCC risk was associated with rs28535317 (OR = 1.20, p = 9.88 × 10− 11) corresponding to an amino-acid change from phenylalanine to leucine at codon 26 of HLA-DRB1 (OR = 1.17, p = 2.48 × 10− 10). An additional independent association was observed for a threonine to isoleucine change at codon 107 of HLA-DQA1 (OR = 1.14, p = 2.34 × 10− 9). Among the classical HLA alleles, cSCC was associated with DRB1*01 (OR = 1.18, p = 5.86 × 10− 10). Conditional analyses revealed additional independent cSCC associations with DQA1*05:01 and DQA1*05:05. Extended haplotype analysis was used to complement the imputed haplotypes, which identified three extended haplotypes in the HLA-DR and HLA-DQ regions.

Conclusions

Associations with specific HLA-DR and -DQ alleles are likely to explain previously observed GWAS signals in the HLA region associated with cSCC risk.



https://ift.tt/2IAip4F

Robotic lateral oropharyngectomy following diagnostic tonsillectomy is oncologically safe in patients with high risk human papillomavirus related squamous cell cancer

Abstract

Purpose

Diagnostic tonsillectomy is rarely an oncologic operation owing to close or positive margins. The standard of care is for further treatment to the primary site, typically with adjuvant radiotherapy.

Methods

14 patients with close or positive margins following a diagnostic tonsillectomy underwent transoral robotic surgery (TORS) and lateral oropharyngectomy; five patients with the longest follow-up had their excision specimens examined with a step serial sectioning technique (SSS).

Results

Conventional histopathological examination of the TORS resection specimens did not demonstrate residual carcinoma in 13 patients, confirmed by examination using SSS in 5 patients. There were no post-operative complications or long-term functional deficit. Seven patients received surgery alone with 100% overall and disease specific survival, respectively (median follow-up 27.5 months; range 5.2–50.4).

Conclusions

This prospective study suggests that TORS lateral oropharyngectomy alone is an oncologically safe treatment when close or positive margins are identified on diagnostic tonsillectomy in HPV-positive SCC.



https://ift.tt/2rDPNx9