Diffuse Alveolar Hemorrhage without Extrapulmonary Manifestations: A Rare Presentation of Lupus.

Am J Case Rep. 2018 Feb 28;19:218-223

Authors: Bajantri B, Sapkota B, Venkatram S

Abstract
BACKGROUND Diffuse alveolar hemorrhage (DAH) is a life-threatening disorder resulting in hemorrhage into the lungs due to a variety of reasons. The underlying etiology for DAH is broadly divided into immune and non-immune mediated causes. Rheumatological disorders account for a small number of cases. Although hemoptysis is one of the alarming symptoms of DAH, it is absent in a third of the cases. Diagnosis often requires a conglomerate of history, clinical, and laboratory investigation and radiological studies. CASE REPORT We describe a case of a 31-year-old female who had an atypical presentation of systemic lupus erythematosus (SLE) with primary lung involvement/DAH and no other organ involvement. CONCLUSIONS This case report illustrates the importance of awareness and early recognition of the complication that can prevent mortality.

PMID: 29487279 [PubMed - indexed for MEDLINE]

A Rare Case of Cardiac Calcified Amorphous Tumor: Multi-Modality Imaging Evaluation.

Am J Case Rep. 2018 Feb 27;19:214-217

Authors: Xu F, Xiao Z, Peng L, Qin C, Yang G, Gu J, Zuo Y

Abstract
BACKGROUND Cardiac calcified amorphous tumors (CAT) are rarely presented and featured as calcification and eosinophilic amorphous material in dense collagenous fibrous tissue. CASE REPORT Our case report describes a 47-year-old man presenting cardiac CAT with only chronic cough and occasional dizziness. Preoperative multi-modality imaging was used to evaluate it and postoperative histological study was used to confirm the diagnosis. The mass was resected and the patient was fully recovered and discharged on the 7th postoperative day. In the 1-year follow-up, transthoracic echography showed no further pathological changes. CONCLUSIONS Cardiac CAT is a non-neoplastic cardiac tumor of unknown etiology. The tumor is commonly an incidental finding and the treatment of choice is complete surgical resection. In this case, we found that that multi-modality images were helpful in evaluating and diagnosing the cardiac CAT.

PMID: 29483487 [PubMed - indexed for MEDLINE]

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.

Nat Rev Genet. 2016 09 15;17(10):584

Authors: Bahcall OG

PMID: 27629930 [PubMed - indexed for MEDLINE]

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.

Rofo. 2018 Sep;190(9):825-835

Authors: Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA

Abstract
BACKGROUND:  Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities.
METHOD:  A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented. The vast spectrum of diagnostic modalities, ranging from ultrasound with color Doppler, conventional X-ray, CT with 4 D imaging and MRI as well as catheter angiography for appropriate assessment is discussed.
RESULTS:  Congenital vascular anomalies are comprised of vascular tumors, based on endothelial cell proliferation and vascular malformations with underlying mesenchymal and angiogenetic disorder. Vascular tumors tend to regress with patient's age, vascular malformations increase in size and are subdivided into capillary, venous, lymphatic, arterio-venous and combined malformations, depending on their dominant vasculature. According to their appearance, venous malformations are the most common representative of vascular anomalies (70 %), followed by lymphatic malformations (12 %), arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).
CONCLUSION:  The aim is to provide an overview of the current classification system and diagnostic characterization of vascular anomalies in order to facilitate interdisciplinary management of vascular anomalies.
KEY POINTS:   · Vascular anomalies are comprised of vascular tumors and vascular malformations, both considered to be rare diseases.. · Appropriate treatment depends on correct classification and diagnosis of vascular anomalies, which is based on established national and international classification systems, recommendations and guidelines.. · In the classification, diagnosis and treatment of congenital vascular anomalies, radiology plays an integral part in patient management..
CITATION FORMAT: · Sadick M, Müller-Wille R, Wildgruber M et al. Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies. Fortschr Röntgenstr 2018; 190: 825 - 835.

PMID: 29874693 [PubMed - indexed for MEDLINE]

Ruptured Pseudoaneurysm of the Lateral Plantar Artery After Tibiotalocalcaneal Fusion With Retrograde Nail-A Rare Complication.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):393-395

Authors: Sundararajan SR, Rajagopalakrishnan R, Rajasekaran S

Abstract
We report a rare presentation of a ruptured pseudoaneurysm of the lateral plantar artery following tibiotalocalcaneal fusion with a retrograde nail at 1 month after the index surgery. Although case reports of pseudoaneurysms of larger arteries such as the anterior tibial artery and posterior tibial artery after ankle surgery (e.g., ankle arthroscopy, implant removal, Ilizarov application) have been reported, we report a rare complication of a pseudoaneurysm of the lateral plantar artery. We discuss the anatomic considerations of the lateral plantar artery in the foot and the entry point of the retrograde nail to avoid this unusual complication.

PMID: 29273188 [PubMed - indexed for MEDLINE]

A Rare Presentation of a Giant Epidermoid Inclusion Cyst Mimicking Malignancy.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):421-426

Authors: Paparella T, Fallat L

Abstract
Epidermoid inclusion cysts, infundibular cysts, and retention cysts are dense, well-encapsulated benign soft tissue lesions that develop after a portion of the epidermis has become implanted in the dermis on a follicular surface such as the scalp, face, or trunk. However, on acral surfaces such as the palms and soles, these cysts present <10% of the time. Typically, these lesions will not progress to sizes >5 cm. However, a rare subtype of epidermal cysts known as giant epidermal cysts tends to be much larger. Unlike epidermal inclusion cysts, giant cysts lack a central punctum, present on areas of thick skin lacking hair follicles, and affect an older patient population. Because of their large size and unique characteristics, few cases of giant epidermal cysts localized to the foot have been reported. We present a case report of a 57-year-old male with a rapidly growing, large, ulcerated, atypical epidermal inclusion cyst that had developed on the medial aspect of his hallux with underlying osseous changes. In this particular case, the location, overlying skin changes, and rapid growth of the lesion raised suspicion for malignancy. In the present report, we discuss the unusual features of this particular cyst and the etiologies, treatment course, and short-term outcomes regarding this unique tumor.

PMID: 29254851 [PubMed - indexed for MEDLINE]

Synovial Sarcoma of the Digits: A Case Report of an Unplanned Excision.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):388-392

Authors: Taranto J, Havlat MF

Abstract
Synovial sarcoma is a rare occurrence in the lower extremity, although the presenting symptoms can mimic those of other more common and benign musculoskeletal pathologies. We present the case of a patient who was originally thought to have a Morton's neuroma or ganglionic cyst. The correct diagnosis, synovial sarcoma, was determined only after an unplanned excision. Despite the patient presenting with symptoms similar to those of a compressive neuropathy, a high index of suspicion should be present when a patient presents with any soft tissue mass, especially if it has an unusual clinical appearance to avoid an unplanned excision.

PMID: 29108685 [PubMed - indexed for MEDLINE]

Pulmonary alveolar proteinosis and clear cell renal cell carcinoma.

Clin Respir J. 2017 May;11(3):400-402

Authors: Zhou WW, Guan YY, Liu XM

PMID: 26148820 [PubMed - indexed for MEDLINE]

Genomic and phenotypic delineation of congenital microcephaly.

Genet Med. 2018 Sep 14;:

Authors: Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS

Abstract
PURPOSE: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.
METHODS: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.
RESULTS: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarfism both clinically (short stature in >52% of patients with primary microcephaly) and molecularly (e.g., we report the first instance of CEP135-related microcephalic primordial dwarfism). We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1.
CONCLUSION: Our study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect.

PMID: 30214071 [PubMed - as supplied by publisher]

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genet Med. 2018 Sep 13;:

Authors: Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB, BabySeq Project Team

Abstract
PURPOSE: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.
METHODS: We evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting. Reason(s) for declining participation and sociodemographic associations were analyzed.
RESULTS: Of 3860 eligible approached families, 10% attended ES, 67% of whom enrolled. Of 1760 families queried for decline reasons, 58% were uninterested in research. Among 499 families considering research, principal reasons for decline prior to ES included burdensome study logistics (48%), feeling overwhelmed postpartum (17%), and lack of interest/discomfort with genetic testing (17%). Decliners after ES more often cited concerns about privacy/insurability (41%) and uncertain/unfavorable results (23%).
CONCLUSION: Low interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts. Concerns over privacy and result implications were most commonly cited in decliners after ES. Understanding parental concerns around research nGS may inform future integration of nGS into newborn screening, predictive testing, and pediatric diagnostics.

PMID: 30209271 [PubMed - as supplied by publisher]

Amyloidosis: A rare disease with varied manifestations.

Curr Probl Cancer. 2016 Sep - Dec;40(5-6):181-182

Authors: Holkova B

PMID: 27993186 [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 2018/09/13

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.

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 2018/09/13

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.

A rare case of unilateral postaxial duplicated foot in a developmentally normal child.

J Orthop Surg (Hong Kong). 2017 Jan;25(1):2309499016684989

Authors: Sahdi H, Hoong CW, Rasit AH, Arianto F, Siong LK, Abdullah NA

Abstract
Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities. Here, we present an unusual case of isolated diplopodia involving postaxial toes in a child with no other organ and physical abnormalities. Radiological studies revealed a set of 10-digit-duplicated foot over the lateral aspect of the native foot, complete with phalanges and its corresponding metatarsals as well as tarsals, supplied by an anomalous posterior branch of the popliteal artery. Definitive surgery was performed just before the child was learning to walk.

PMID: 28166702 [PubMed - indexed for MEDLINE]

Hereditary angioedema - rare disease, complex problems.

Lijec Vjesn. 2016 Nov-Dec;138(11-12):359-60

Authors: Karadža-Lapić L

PMID: 30148575 [PubMed - indexed for MEDLINE]

13 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 2018/09/11

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.

Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review.

J Dermatol Sci. 2018 Apr;90(1):21-26

Authors: Shakya P, Pokhrel KN, Mlunde LB, Tan S, Ota E, Niizeki H

Abstract
BACKGROUND: Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis is a rare genetic disease which predominantly affects skin, bone and soft connective tissue. It is characterized by the triad of pachydermia, digital clubbing and periostosis of long bones. Arthralgia or arthritis is also present in most of the cases. Genetic studies have identified the impaired PGE2 metabolism as a culprit for hypertrophic osteoarthropathy in PHO cases. We conducted a systematic review to examine the effectiveness of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs), a PGE2 synthesis blocker to reduce the symptoms among PHO patients.
METHODS: We searched the evidence in five databases; Cochrane Library, CINAHL, EMBASE, MEDLINE, and PubMed. We reported the evidence using narrative synthesis.
RESULTS: Out of 238 identified studies, we selected 26 for the synthesis. All were case reports which included a total of 54 patients. Among them, 39 patients were treated with at least one type of NSAIDs. Around 70% of the patients treated with NSAIDs had clinical improvement for their symptoms, mostly arthritis or arthralgia symptoms.
CONCLUSION: NSAIDs were effective in improving arthralgia or arthritis symptoms in majority of the PHO patients. Therefore, we recommend the use of NSAIDs in PHO patients to treat arthralgia or arthritis.

PMID: 29305259 [PubMed - indexed for MEDLINE]

Charities and the lure of capitalism: Philanthropies dedicated to finding cures for rare diseases explore new models for funding and cooperation to accelerate research and drug development.

EMBO Rep. 2017 04;18(4):519-522

Authors: Wolinsky H

PMID: 28274952 [PubMed - indexed for MEDLINE]

Lingual melanotic macule - the first case report in an adult patient.

An Bras Dermatol. 2018 Mar;93(2):310-311

Authors: Suzuki HS, Souza TBC, Werner B

PMID: 29723359 [PubMed - indexed for MEDLINE]

Orphan drugs: Indian perspective.

Indian J Pharmacol. 2017 Jul-Aug;49(4):267-269

Authors: Kumar H, Sarma P, Medhi B

PMID: 29326485 [PubMed - indexed for MEDLINE]