[A Rare Form of Oral Leukoplakia].

Laryngorhinootologie. 2017 01;96(1):43-44

Authors: Steinbichler TB, Moser P, Dudas J, Gassner R, Riechelmann H

PMID: 27978585 [PubMed - indexed for MEDLINE]

Multimodality imaging-based evaluation of Rosai-Dorfman disease in the head and neck: A retrospective observational study.

Medicine (Baltimore). 2017 Dec;96(51):e9372

Authors: Xu Q, Fu L, Liu C

Abstract
Rosai-Dorfman disease (RDD) is an uncommon benign entity characterized histologically by lymphatic sinus dilatation due to histiocyte proliferation. This study was performed to delineate its imaging features, reviewed retrospectively in 12 patients (8 women and 4 men, mean age 58.2 years [range 27-84]) with pathologically confirmed RDD in the head and neck. The location, involvement, and imaging characteristics (CT, magnetic resonance imaging (MRI), and PET/CT) of all lesions were evaluated. Signal intensity on MRI images was compared to gray matter (orbital RDD) and adjacent muscle (sinonasal and cervical RDD). RDD in the head and neck involved multiple sites, primarily the sinonasal cavity (n = 7), neck (n = 3), and orbit (n = 1), with one case of simultaneous involvement of the sinonasal cavity, orbit, and neck. With sinonasal involvement, MRI signal intensity of the involved areas was isointense or slightly hyperintense relative to adjacent muscle on T1WI images and heterogeneous on T2WI images; with lacrimal involvement, it was isointense relative to gray matter on T1- and T2-weighted images; and with neck involvement, it was isointense relative to muscle on T1WI images and relatively hyperintense on T2WI images, with homogenous postcontrast enhancement in all sites of involvement. The lesions on CT were observed as enhancing masses with or without bony destruction. PET/CT showed hypermetabolism in one lesion in the neck. RDD is a rare disorder with multiple sites of involvement in the head and neck. Concomitant cervical lymphadenopathy with extranodal masses assisted by multimodal imaging may be useful in the diagnosis of RDD.

PMID: 29390533 [PubMed - indexed for MEDLINE]

Dexmedetomidine-based monitored conscious sedation combined local anesthesia for levator resection in a 10-year-old child with Marcus Gunn jaw-winking synkinesis: A case report.

Medicine (Baltimore). 2017 Dec;96(51):e9369

Authors: Tu Y, Gao F

Abstract
RATIONALE: Levator resection has become a routine procedure for patients with severe Marcus Gunn jaw-winking synkinesis (MGJWS). To optimize the surgical outcome, adult patients need to be kept awake, or easily aroused and responsive to verbal commands during the operation. However, levator resection is commonly performed under general anesthesia in pediatric patients. In the present case, we described a successful anesthetic protocol of conscious sedation with local anesthesia for levator resection in a child.
PATIENT CONCERNS: A 10-year-old boy with MGJWS was admitted to our hospital and scheduled for levator resection. The patient was born through a normal delivery and had no previous history of allergy, no comorbidity, and no history of receiving anesthesia or operation. The laboratory tests of the patient were unremarkable.
DIAGNOSES: The diagnosis of MGJWS was made by two experienced ophthalmologists.
INTERVENTIONS: A 10-year-old boy with MGJWS was admitted to our hospital and scheduled for levator resection. The levator resection was performed under monitored conscious sedation with dexmedetomidine and local anesthesia.
OUTCOMES: Patient with spontaneous breathing responded normally to verbal commands throughout the operation, and no adverse events occurred. The patient and ophthalmologist reported high satisfaction with anesthesia management.
LESSONS: Dexmedetomidine-based monitored conscious sedation with local anesthesia is a feasible alternative to general anesthesia for levator resection in collaborative patients.

PMID: 29390531 [PubMed - indexed for MEDLINE]

Solitary fibrous tumor of the ilium: A case report.

Medicine (Baltimore). 2017 Dec;96(51):e9355

Authors: Ge X, Liao J, Choo RJ, Yan J, Zhang J

Abstract
RATIONALE: Solitary fibrous tumors (SFTs) are rare spindle cell tumors that are most commonly found in the mediastinal pleura. Although there are increasingly more reports of extra-pleural SFTs, reports of SFTs in bone are very rare. To our knowledge, a SFT of the ilium has not yet been reported. With low specificity on computer tomograpy and magnetic resonance imaging, SFTs are easily misdiagnosed.
PATIENT CONCERNS: A 33-year-old man visited our hospital due to repeated right ilium pain for 3 months. The pain was dull and bearable, with no hip joint dyskinesia. The relevant physical examinations are negative. The patient was healthy before and had a negative family history. Radiologically, a large mass with inhomogeneous attenuation and intensity and obvious heterogeneous enhancement was misdiagnosed as a giant cell tumor of ilium.
DIAGNOSES: The man was diagnosed as the solitary fibrous tumor of right ilium.
INTERVENTIONS: The patient was performed an "incision biopsy of the right ilium" and "extended resection of tumor".
OUTCOMES: The pathology and immunohistochemistry was confirmed as the solitary fibrous tumors. The patient was followed-up by computed tomography of pelvis in local hospital every 6 mouths, and there is no recurrence and any symptoms.
LESSONS: We learned that the solitary fibrous tumor could locate in the ilium, and when we see imaging manifestations like this case, we should think it may be SFT.

PMID: 29390521 [PubMed - indexed for MEDLINE]

Cervical digit in a child: A case report.

Medicine (Baltimore). 2017 Dec;96(51):e9348

Authors: Tong MJ, Xiang GH, He ZL, Xu HZ, Tian NF

Abstract
BACKGROUND: A "digit-like" bone is a rare developmental anomaly that is usually seen in the pelvic or thoracic regions. Such an anomaly in the cervical spine is extremely rare and few cases have been reported. We present a patient with an anomalous bone posterior to a cervical vertebra. The patient was admitted to our hospital with a gradually growing hard neck mass and esthetic complaints. Physical examination, radiographs, reconstructed computed tomography, and magnetic resonance imaging revealed a digit-like bone posterior to the cervical spine. The patient was diagnosed with a "cervical digit." Through a posterior midline approach, the anomalous bone was excised because of its gradually increasing size and esthetic complaints.
RESULTS: Intraoperatively, the bony mass was found to have a pseudoarticulation with the spinous process of C5 (the fifth cervical vertebra). The specimen consisted of normal bone and cartilage. The child returned to a normal life postoperatively with no symptoms. There was no recurrence at the 2-year follow-up.
CONCLUSION: A congenital cervical digit is a rare deformity. A detailed clinical workup and advanced imaging examinations are useful for diagnosing such conditions. Esthetic complaints contribute to surgical indications. This is the first cervical digit managed with surgical excision of the anomalous bone and had a favorable outcome.

PMID: 29390517 [PubMed - indexed for MEDLINE]

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.

Blood Cells Mol Dis. 2016 10;61:46-7

Authors: Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H

PMID: 27667165 [PubMed - indexed for MEDLINE]

I Am That Parent.

JAMA. 2018 Feb 06;319(5):445

Authors: Rule ARL

PMID: 29411036 [PubMed - indexed for MEDLINE]

The decision-making process and criteria in selecting candidate drugs for progeria clinical trials.

EMBO Mol Med. 2016 07;8(7):685-7

Authors: Gordon LB, Kieran MW, Kleinman ME, Misteli T

PMID: 27234439 [PubMed - indexed for MEDLINE]

[Aplasia cutis congenita is a rare and possibly overlooked congenital anomaly].

Ugeskr Laeger. 2014 Nov 24;176(48):

Authors: E Rogvi R, Sommerlund M, Vestergaard ET

Abstract
Aplasia cutis congenita (ACC) is a rare congenital defect of the skin. In this study we present the diagnosis and management of the condition. In 1997-2009 a total of 65 ACC cases were registered in the Danish National Patient Registry (1:13.000 births). The mortality among these cases was 1.6% (one case) though the death was not attributable to ACC, which is far lower than described in international studies.

PMID: 25430571 [PubMed - indexed for MEDLINE]

11 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/02/15

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

[Patient with homozygous sickle cell disease and free flap surgery: Ensuring the success of the procedure].

Ann Chir Plast Esthet. 2017 Apr;62(2):171-175

Authors: Deneuve S, Maire L, Bachelot V, Dammacco MA, Zrounba P, Delay E

Abstract
Sickle cell anaemia is rare in France but frequent in Africa, leading to rigid, sickle-like shape red blood cells which bind together blocking microcirculation under certain circumstances. The vaso-occlusive crisis is the most frequent clinical manifestation especially in case of homozygous disease. Sickle cells disease is therefore usually considerated as a contraindication to microsurgery, however sometimes, a free flap procedure is mandatory. We here report the case of a 47-year-old man suffering with homozygous sickle cell anaemia and needing an antebrachial free flap procedure for a tongue reconstruction. The postoperative course was unremarkable apart from a delayed healing which is common in this particular localization. A review of the litterature allows to list the precautions to be taken to ensure a microsurgical procedure with this medical background. The preoperative examination has to assess usual sickle cell disease comorbidities such as kidney failure, heart failure or pulmonary hypertension. All the events leading to either low output syndrome, hypoxia, hypothermia, or a stress caused by uncontrolled pain should be avoided per- and postoperatively. With an optimum medical care, microsurgery is possible even in patients suffering with sickle cells anaemia. This case is rare in France but will become frequent in Africa with the improvement of the healthcare system, allowing to give all patients the best medical care.

PMID: 27692921 [PubMed - indexed for MEDLINE]

The attitudes of medical students towards rare diseases: A cross-sectional study.

Vojnosanit Pregl. 2016 Aug;73(8):703-13

Authors: Medić B, Divac N, Stopić N, Savić-Vujović K, Glišić A, Cerovac N, Stojanović R, Srebro D, Prostran M

Abstract
Background/Aim: Rare diseases are chronic, degenerative and may lead to permanent disability. We aimed to assess knowledge and attitudes of the 3rd and 6th year medical students towards the treatment of rare diseases in Serbia. Methods. In this cross-sectional study, two samples of students were questioned for a survey: 350/446 (78.48%) students of the 3rd year, and 242/517 (46.81%) students of the 6th year.
Methods: In this cross-sectional study, two samples of students were questioned for a survey: 350/446 (78.48%) students of the 3rd year, and 242/517 (46.81%) students of the 6th year.
Results: Sixth year students estimated that they were more informed on the issue analyzed than the 3rd year students (median value of 4 and 3, interquartile range of 3-5, and 1-4, respectively; p < 0.05). However, a significant percentage of participants estimated incorrectly the prevalence of rare diseases according to the European Union standards (3rd year - 42.68%, 6th year - 49.55%). Core curriculum subjects were the main source of information on rare diseases (3rd year - 63.14%; 6th year - 92.14%). Our participants agreed that the most important problems are the following: high drug prices, difficult access to drugs and lack of public information. Students found, without any differences, that community access to effective drugs for rare disease should be improved (median value - 10, interquartile range 8-10 in both groups, p < 0.05). In order to improve pharmacotherapy of rare diseases in Serbia, the participants suggested establishment of a National Plan for Rare Diseases, approval of more appropriate drugs, simplified access to appropriate medicines, and more rapid diagnostics.
Conclusion: It is necessary to improve the knowledge and attitudes of medical students towards pharmacotherapy of rare diseases. [Projekat Ministarstva nauke Republike Srbije, br. 175023]

PMID: 29328568 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/02/13

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

9 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/02/10

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/02/08

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/02/08

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

A multistep approach to the diagnosis of rare genodermatoses.

J Dtsch Dermatol Ges. 2016 Oct;14(10):969-986

Authors: Tantcheva-Poór I, Oji V, Has C

Abstract
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications. In order to support the clinicians' interest for this complex and rapidly developing field of dermatology, we are going to present a multistep approach with some useful clues for the evaluation of patients suspected of having a genodermatosis.

PMID: 27767270 [PubMed - indexed for MEDLINE]

Pelvic lipomatosis.

Kidney Int. 2016 08;90(2):453

Authors: Prabakaran R, Abraham G, Kurien A, Mathew M, Parthasarathy R

PMID: 27418096 [PubMed - indexed for MEDLINE]

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

Physiol Genomics. 2016 Nov 01;48(11):850-860

Authors: Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM

Abstract
Sapje zebrafish lack the protein dystrophin and are the smallest vertebrate model of Duchenne muscular dystrophy (DMD). Their small size makes them ideal for large-scale drug discovery screens. However, the extent that sapje mimic the muscle dysfunction of higher vertebrate models of DMD is unclear. We used an optical birefringence assay to differentiate affected dystrophic sapje larvae from their unaffected siblings and then studied trunk muscle contractility at 4-7 days postfertilization. Preparation cross-sectional area (CSA) was similar for affected and unaffected larvae, yet tetanic forces of affected preparations were only 30-60% of normal. ANCOVA indicated that the linear relationship observed between tetanic force and CSA for unaffected preparations was absent in the affected population. Consequently, the average force/CSA of affected larvae was depressed 30-70%. Disproportionate reductions in twitch vs. tetanic force, and a slowing of twitch tension development and relaxation, indicated that the myofibrillar disorganization evident in the birefringence assay could not explain the entire force loss. Single eccentric contractions, in which activated preparations were lengthened 5-10%, resulted in tetanic force deficits in both groups of larvae. However, deficits of affected preparations were three- to fivefold greater at all strains and ages, even after accounting for any recovery. Based on these functional assessments, we conclude that the sapje mutant zebrafish is a phenotypically severe model of DMD. The severe contractile deficits of sapje larvae represent novel physiological endpoints for therapeutic drug screening.

PMID: 27764767 [PubMed - indexed for MEDLINE]

Intraosseous hibernoma: a rare adipocytic bone tumour.

Skeletal Radiol. 2016 Nov;45(11):1565-9

Authors: Vlychou M, Teh J, Whitwell D, Athanasou NA

Abstract
Hibernoma is a benign adipose tumour that contains foetal brown fat cells. We report a case of hibernoma arising in the left ischium of a 65-year-old female with a past history of ovarian carcinoma. The patient presented with a relatively short history of left sacral/hip pain. Radiologically, the lesion, which was large (5 cm) and sclerotic, had been stable for a number of years. Histologically, it was composed mainly of plump cells with foamy, multivacuolated cytoplasm. These cells showed no reaction for epithelial, melanoma or leucocyte markers but expressed FABP4/aP2 and S100, indicating that they were brown fat cells. There was no mitotic activity or nuclear pleomorphism and the lesion was diagnosed as a benign intraosseous hibernoma (IOH). IOH is a recently identified benign adipocytic lesion that presents typically as a sclerotic bone lesion. It has characteristic morphological and immunophenotypic features and should be regarded as a discrete primary bone tumour that needs to be distinguished from metastatic carcinoma/melanoma, chondrosarcoma and metabolic storage diseases containing numerous foamy macrophages.

PMID: 27600140 [PubMed - indexed for MEDLINE]