Fulminant septic shock caused by Capnocytophaga canimorsus in Italy: Case report.

Int J Infect Dis. 2018 Jul;72:3-5

Authors: Piccinelli G, Caccuri F, De Peri E, Tironi A, Odolini S, Notarangelo LD, Gargiulo F, Castelli F, Latronico N, Facchetti F, Caruso A

Abstract
Capnocytophaga canimorsus infection was recently recognized as a zoonosis. We report the first case of fulminant septic shock in Italy caused by this pathogen. The patient, with a history of splenectomy, died at the main hospital in Brescia with a presumptive diagnosis of sepsis. PCR and sequencing on post mortem samples confirmed C. canimorsus as a causative organism. Our purpose is to alert medical professionals to the virulence of C. canimorsus in asplenic and immunocompromised patients.

PMID: 29730383 [PubMed - indexed for MEDLINE]

A rare case of tibial hemimelia, surgical technique and clinical results.

Acta Orthop Traumatol Turc. 2018 Jul;52(4):315-319

Authors: Basso M, Camurri V, Frediani P, Boero S

Abstract
We report a nine-year-old boy with a type IIIa tibial hemimelia, according to the new Paley classification. We describe the x-ray findings, the surgical treatment technique, and the prognostic course of the patient. Descriptions of such cases are very infrequent in the literature and type of treatment is still object of debate.

PMID: 29248252 [PubMed - indexed for MEDLINE]

Diagnostic features of acquired dermal melanocytosis of the face and extremities.

Clin Exp Dermatol. 2018 Oct;43(7):806-809

Authors: Kosumi H, Miyauchi T, Nomura T, Suzuki S, Ohguchi Y, Nomura A, Shimizu H

Abstract
Acquired dermal melanocytosis of the face and extremities (ADMFE) is an unusual form of acquired dermal melanocytosis (ADM). In this paper, we report a case of ADMFE and review the published literature. Our review highlights several clinical differences between ADMFE and ADM: (i) more frequent involvement of the nasal alae in ADMFE than in ADM, (ii) less frequent involvement of the cheeks in ADMFE than in ADM, (iii) limbs affected in all cases of ADMFE but in few cases of ADM, and (iv) frequent involvement of conjunctiva and/or gingiva in ADMFE but very rare involvement in ADM. These findings strongly support the hypothesis that ADMFE is clinically distinct from the classic form of ADM, and gaining an understanding of its phenotype will enable accurate diagnosis and early intervention by Q-switched laser therapy, which should benefit those patients with disease-related cosmetic issues.

PMID: 29952011 [PubMed - indexed for MEDLINE]

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve. 2018 Nov 09;:

Authors: Qualls AE, Donkervoort S, Herkert JC, D'Gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB

Abstract
INTRODUCTION: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in seven CM patients (six with CNMs). We report two additional patients with SPEG mutations expanding the phenotype and evaluate genotype-phenotype correlations associated with SPEG mutations.
METHODS/RESULTS: Using whole exome/genome sequencing in CM families, we identified novel recessive SPEG mutations in two patients. Patient 1, with severe muscle weakness requiring respiratory support, dilated cardiomyopathy, ophthalmoplegia, and findings of non-specific CM on muscle biopsy carried a homozygous SPEG mutation (p.Val3062del). Patient 2, with milder muscle weakness, ophthalmoplegia, and CNM carried compound heterozygous mutations (p.Leu728Argfs*82) and (p.Val2997Glyfs*52).
DISCUSSION: The two patients add insight into genotype-phenotype correlations of SPEG-associated CMs. Clinicians should consider evaluating a CM patient for SPEG mutations even in the absence of CNM features. This article is protected by copyright. All rights reserved.

PMID: 30412272 [PubMed - as supplied by publisher]

Uhl's anomaly: rare but does exist.

Asian Cardiovasc Thorac Ann. 2018 Sep;26(7):563-565

Authors: Kumar P, Chaturvedi H, Khatri P, Khatri S

Abstract
A 17-year-old boy presented with facial puffiness and swelling in the lower limbs for 6 months and one episode of syncope 15 days earlier. Transthoracic echocardiography showed a dilated right atrium and right ventricle with right ventricular systolic dysfunction. The free wall of the right ventricle was thinned out and devoid of myocardium and trabeculations. Cardiac magnetic resonance imaging showed an extremely dilated thin-walled right ventricle and absence of trabeculations, with no fat signal in the right ventricular wall, in contrast to that seen in arrhythmogenic ventricular dysplasia, which confirmed the diagnosis of Uhl's anomaly.

PMID: 30253664 [PubMed - indexed for MEDLINE]

Accessory liver within the thoracic cavity.

Surg Radiol Anat. 2018 Sep;40(9):1085-1091

Authors: Adin ME, Çetinçakmak MG, Deniz MA, Göya C

Abstract
Ectopic intrathoracic liver tissue is extremely rare. Studies are mainly limited to case reports. In the vast majority of reported cases, a diagnosis of intrathoracic liver tissue was made either after a thoracic surgery or during a postmortem examination. However, once included in differential diagnosis, surgical intervention or biopsy procedures may be avoided with optimal diagnostic approach. In the present study, we conducted a literature review and proposed a new classification method for accessory liver within the thoracic cavity. This approach may provide a better understanding of underlying pathophysiology and aid in determination of optimal diagnostic modality and clinical management of such cases. According to our literature review, type II ectopic liver is the most common subtype followed by types I and III. All types can be definitively diagnosed with imaging modalities. On the other hand, it is important to prevent patients, particularly children, from unnecessary radiation exposure during performance of sophisticated diagnostic imaging modalities. Ultrasound is a safe, low-cost and accessible imaging modality that has not been previously reported in diagnosis of this entity. With addition of Color Doppler Imaging, ultrasound may allow for diagnosis with high precision in types I and II, as demonstrated in the present study. Based on long-term follow-up of a case reported here, this study also illustrates the natural course of this entity via non-operative management. This approach may prevent an unnecessary surgical intervention.

PMID: 29860552 [PubMed - indexed for MEDLINE]

Pelvic tumor fed by the superior mesenteric artery. What is your diagnosis? GIST complicating Meckel's diverticulum.

J Visc Surg. 2018 02;155(1):83-85

Authors: Martre P, Codjia T, Tuech JJ, Schwarz L

PMID: 29396111 [PubMed - indexed for MEDLINE]

[The GLITRAD (Adult Brainstem Gliomas) network: A national multidisciplinary group dedicated to brainstem gliomas in adults].

Bull Cancer. 2017 Jun;104(6):593-595

Authors: Laigle-Donadey F, Loiseau H, au nom du groupe GLITRAD du réseau TUCERA de l’ANOCEF

PMID: 28427714 [PubMed - indexed for MEDLINE]

6 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 2018/11/09

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.

10 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 2018/11/08

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.

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 2018/11/08

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.

Adamantinoma of bone: Long-term follow-up of 46 consecutive patients.

J Surg Oncol. 2018 Dec;118(7):1150-1154

Authors: Houdek MT, Sherman CE, Inwards CY, Wenger DE, Rose PS, Sim FH

Abstract
BACKGROUND: Adamantinomas are rare bone tumors, commonly affecting the tibia. Due to the rare nature of disease, previous studies are small or from multiple centers. The purpose of this study is to investigate outcomes of patients with adamantinoma treated in a single institution.
METHODS: Forty-six histological confirmed adamantinomas of the extremities were reviewed at our institution between 1939 and 2012. Follow-up data included clinical and radiographical information focusing on complications, local recurrence, metastasis, and overall survival after the treatment. The mean follow-up was 16 years (range 2-42 years).
RESULTS: The most common location was the tibia (n = 31). Patients commonly presented with pain and swelling. The mean age was 24 years (7-79 years). Thirty-seven patients were treated with limb salvage. The 39% of patients required a reoperation. The 10-year disease specific- and recurrence free survival was 92% and 72%, with three patients having a recurrence over 15 years postoperative. Older (> 20 years) patients and males were at increased risk of local recurrence (P < 0.05).
CONCLUSION: Treatment of adamantinoma of the long bone consists of limb-salvage surgery. Male patients should be cautioned on their increased risk of disease recurrence, and advocate for continued surveillance of patients even greater than 15-years postoperatively due to late tumor recurrence.

PMID: 30332521 [PubMed - indexed for MEDLINE]

OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases.

Stud Health Technol Inform. 2018;253:209-213

Authors: Schaaf J, Kadioglu D, Goebel J, Behrendt CA, Roos M, van Enckevort D, Ückert F, Sadiku F, Wagner TOF, Storf H

Abstract
The Open Source Registry for Rare Diseases (OSSE) provides a concept and a software for the management of registries for patients with rare diseases. A disease is defined as rare if less than 5 out of 10,000 people are affected. Up to date, approximately 6,000 rare diseases are catalogued. Networking and data exchange for research purposes remains challenging due to the paucity of interoperability and due to the fact that small data stocks are stored locally. The so called "Findable, Accessible, Interoperable, Reusable" (FAIR) Data Principles have been developed to improve research in the field of rare diseases. Subsequently, the OSSE architecture was adapted to implement the FAIR Data Principles. Therefore, the so-called FAIR Data Point was integrated into OSSE to provide a description of metadata in a FAIR manner. OSSE relies on the existing metadata repository (MDR), which is used in to define data elements in the system. This is an important step towards unified documentation across multiple registries. The integration and use of new procedures to improve interoperability plays an important role in the context of registries for rare diseases.

PMID: 30147075 [PubMed - indexed for MEDLINE]

Recent Developments in Using Drosophila as a Model for Human Genetic Disease.

Int J Mol Sci. 2018 Jul 13;19(7):

Authors: Oriel C, Lasko P

Abstract
Many insights into human disease have been built on experimental results in Drosophila, and research in fruit flies is often justified on the basis of its predictive value for questions related to human health. Additionally, there is now a growing recognition of the value of Drosophila for the study of rare human genetic diseases, either as a means of validating the causative nature of a candidate genetic variant found in patients, or as a means of obtaining functional information about a novel disease-linked gene when there is little known about it. For these reasons, funders in the US, Europe, and Canada have launched targeted programs to link human geneticists working on discovering new rare disease loci with researchers who work on the counterpart genes in Drosophila and other model organisms. Several of these initiatives are described here, as are a number of output publications that validate this new approach.

PMID: 30011838 [PubMed - indexed for MEDLINE]

GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.

BMC Bioinformatics. 2018 01 27;19(1):25

Authors: Koile D, Cordoba M, de Sousa Serro M, Kauffman MA, Yankilevich P

Abstract
BACKGROUND: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a rare disease, using the genomic and clinical information provided by a medical practitioner. Variants identified in a whole-genome, whole-exome or target sequencing studies are annotated, classified and filtered by clinical significance. Candidate genes associated with the patient's symptoms, suspected disease and complementary findings are identified to obtain a small manageable number of the most probable recessive and dominant candidate gene variants associated with the rare disease case. Additionally, following the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG-AMP) guidelines and recommendations, all potentially pathogenic variants that might be contributing to disease and secondary findings are identified.
RESULTS: A retrospective study was performed on 40 patients with a diagnostic rate of 40%. All the known genes that were previously considered as disease causing were correctly identified in the final inherit model output lists. In previously undiagnosed cases, we had no additional yield.
CONCLUSION: This unique, intuitive and user-friendly tool to assists medical doctors in the clinical genomics diagnostic process is openly available at https://bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO/ .

PMID: 29374474 [PubMed - indexed for MEDLINE]

[Malignant peritoneal mesothelioma is a rare disease].

Ugeskr Laeger. 2014 Dec 15;176(25A):

Authors: Poulsen A, Pedersen G

Abstract
Malignant peritoneal mesothelioma is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, fever, diarrhoea, vomiting and ascites. The findings by radiographic imaging are unspecific and the diagnosis is therefore often first achieved by biopsy from the affected area. Although treatment with chemotherapy and cytoreductive surgery has improved the survival prognosis for the patients is poor with a median survival of 38 month.

PMID: 25497620 [PubMed - indexed for MEDLINE]

19 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 2018/11/06

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.

19 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 2018/11/06

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.

Outliers of bone metabolic diseases.

Metabolism. 2018 03;80:1-4

Authors: Polyzos SA, Mantzoros CS

PMID: 28987276 [PubMed - indexed for MEDLINE]

Benign mesenchymoma of bone: A rare case report.

J Cancer Res Ther. 2018 Apr-Jun;14(3):701-702

Authors: Nandedkar S, Malukani K, Khandelwal A, Jain A

Abstract
Benign mesenchymomas, exceptionally rare tumors, composed of two or more nonepithelial mesenchymal elements are not usually found together in a tumor. We report herein a rare case of benign mesenchymoma in the lower end of tibia in a 36-year-old female showing fibrous, fatty, and osseous elements.

PMID: 29893345 [PubMed - indexed for MEDLINE]