Rare anemias due to genetic iron metabolism defects.

Mutat Res. 2018 Jul - Sep;777:52-63

Authors: Brissot P, Bernard DG, Brissot E, Loréal O, Troadec MB

Abstract
Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. These diseases encompass a variety of sideroblastic anemias, characterized by the presence of ring sideroblasts in the bone marrow. Clinical expression of congenital sideroblastic anemia is either monosyndromic (restricted to hematological lineages) or polysyndromic (with systemic expression), depending on whether iron metabolism, and especially heme synthesis, is directly or indirectly affected. Beside sideroblastic anemias, a number of other anemias can develop due to mutations of key proteins acting either on cellular iron transport (such as the DMT1 transporter), plasma iron transport (transferrin), and iron recycling (ceruloplasmin). Contrasting with the aforementioned entities which involve compartmental, and sometimes, systemic iron excess, the iron refractory iron deficiency anemia (IRIDA) corresponds to a usually severe anemia with whole body iron deficiency related to chronic increase of plasma hepcidin, the systemic negative regulator of plasma iron. Once clinically suggested, these diseases are confirmed by genetic testing in specialized laboratories.

PMID: 30115430 [PubMed - indexed for MEDLINE]

Successful Treatment of Type 1 Cryoglobulinemic Vasculitis With Cardiac Involvement.

Can J Cardiol. 2018 03;34(3):343.e1-343.e3

Authors: Cao XX, Tian Z, Lin L, Sun J, Su W, Zhou DB, Li J

Abstract
Cryoglobulinemic vasculitis is a rare and frequently fatal type of myocarditis. Cardiac manifestations in type 1 cryoglobulinemic vasculitis have never been reported to our knowledge. We report a rare case of type 1 cryoglobulinemic vasculitis with cardiac involvement in a patient who experienced progressive heart failure during the diagnosis. The diagnosis was made by the presence of cryoglobulins and endomyocardial biopsy results. After bortezomib-containing treatments, plasma cryoglobulin levels returned to normal, and the patient's clinical condition gradually improved.

PMID: 29395708 [PubMed - indexed for MEDLINE]

Left pericardial congenital defect: the heart shows its moves at CMR.

Eur Heart J Cardiovasc Imaging. 2017 11 01;18(11):1270

Authors: Moura-Ferreira S, Budts W, Bogaert J

PMID: 28679167 [PubMed - indexed for MEDLINE]

[Dermatofibrosarcoma: Management].

Bull Cancer. 2018 Nov;105(11):1094-1101

Authors: Penel N, El Bedoui S, Robin YM, Decanter G

Abstract
Dematofibrosarcoma protuberans (DFSP) are very rare (1 to 4 incident cases per million of inhabitants). The local spreading of DFSP is underestimated. The histological diagnosis is challenging but we now know a specific marker (translocation t(17;22)(q22;q13) (COL1A1;PDGFB)). The risk of metastatic relapse is low (and related to fibrosarcoma component); the risk of local relapse depends on the quality of surgery. Management of localized DFSP is based on large resection with meticulous analysis of margins (with or without Mohs microsurgery). Advanced stages not amenable to surgery or metastatic DFSP (with presence of COL1A1;PDGFB) are best treated with imatinib. Locally advanced DFSP potentially amenable to curative intent surgery could be treated with imatinib as neo-adjuvant treatment. The management of these tumours requires multidisciplinary expertise.

PMID: 30297237 [PubMed - indexed for MEDLINE]

Dark Colored Urine in a 2-Year-Old Child.

Clin Chem. 2017 03;63(3):786-788

Authors: Peake RW, Bodamer OA

PMID: 28242834 [PubMed - indexed for MEDLINE]

[Sjældent syndrom som differentialdiagnose ved markant fregnedannelse].

Ugeskr Laeger. 2016 11 21;178(47):

Authors: Lings K, Lauridsen MF, Hansen LK

PMID: 27908317 [PubMed - indexed for MEDLINE]

[Erdheim-Chester disease : An important differential diagnosis and its main symptoms].

Z Rheumatol. 2018 Nov 14;:

Authors: Knitza J, Kampylafka E, Wacker J, Schett G, Manger B

Abstract
BACKGROUND: During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways.
OBJECTIVE: Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented.
RESULTS: The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors.
CONCLUSION: The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.

PMID: 30430236 [PubMed - as supplied by publisher]

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis.

BMC Health Serv Res. 2018 Aug 29;18(1):668

Authors: Merker VL, Dai A, Radtke HB, Knight P, Jordan JT, Plotkin SR

Abstract
BACKGROUND: Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and schwannomatosis (SWN). Our secondary aim was to identify how our findings in NF could be applied more broadly to other rare diseases.
METHODS: We retrospectively reviewed aggregate data on patient volume reported by specialty NF clinics in a nonprofit network from 2008 to 2015. We classified clinics as high or low volume for disease type (NF1 and NF2/schwannomatosis) and pediatric/adult care. We compared clinic-level data to self-reported patient-level data from a large online patient registry.
RESULTS: Between 2008 and 2015, the number of certified NF clinics grew from 32 to 50, and annual patient volume rose from 6776 to 10,245 patients (13% of the total estimated U.S. NF patient population). For patient registry participants (n = 4476), the median driving distance to the nearest network clinic was 51.3 miles. Driving distances to reach high-volume centers were elevated for adults compared to children (295.8 vs. 67.9 miles), and schwannomatosis and NF2 patients compared to NF1 patients (310.9 vs. 368.1 vs. 161.7 miles). Of registry participants reporting their location of care (n = 2271), only 43.2% received care in a network specialty clinic, with especially low rates of attendance in the Southwest and Far West.
CONCLUSIONS: While the number of certified NF clinics and volume of patients seen in these clinics has increased, many NF patients still do not attend specialty clinics and/or travel a significant distance for care. Geographic access to care is more limited for adults, patients with rarer conditions, and patients in the Western U.S. Potential measures to improve access to specialty care for people living with NF and other rare diseases are discussed.

PMID: 30157837 [PubMed - indexed for MEDLINE]

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 2018/11/15

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.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Am J Med Genet B Neuropsychiatr Genet. 2018 Nov 13;:

Authors: Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH

Abstract
Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affected child with ID and periventricular nodular heterotopia. We identified an inherited heterozygous nonsense mutation in PSMD12 (NM_002816: c.367C>T: p.R123X) in the multiplex family and a de novo nonsense mutation in the same gene (NM_002816: c.601C>T: p.R201X) in the simplex family. PSMD12 encodes a non-ATPase regulatory subunit of the 26S proteasome. We confirm the association of PSMD12 with ID, present the first cases of inherited PSMD12 mutation, and demonstrate the heterogeneity of phenotypes associated with PSMD12 mutations.

PMID: 30421579 [PubMed - as supplied by publisher]

Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
.

Clin Nephrol. 2018 Sep;90(3):227-231

Authors: Zhou W, Ni Z, Zhang M

Abstract
BACKGROUND: Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN).
CASE PRESENTATION: A 30-year-old man with nephrotic proteinuria, normal renal function, and no other extrarenal manifestations underwent a renal biopsy in February 2017. Light microscopy and immunofluorescence indicated MN (stage 1). Under an electron microscope, there were subepithelial electron-dense deposits and abundant zebra bodies in podocytes. Both the findings of low-activity α-galactosidase A (α-Gal A, GLA) and base deletion in exon 7 of the GLA gene (GLA-E07.1286_*7 del, a newly reported mutation) confirmed that this patient was simultaneously afflicted with Fabry disease.
CONCLUSION: This case report is an important reminder of the role of kidney biopsy, especially electron microscopy, as an indicator of Fabry disease and its rare coexistence with MN.
.

PMID: 29792392 [PubMed - indexed for MEDLINE]

Identification and molecular typing of Naegleria fowleri from a patient with primary amebic meningoencephalitis in China.

Int J Infect Dis. 2018 Jul;72:28-33

Authors: Zhang LL, Wu M, Hu BC, Chen HL, Pan JR, Ruan W, Yao LN

Abstract
Naegleria fowleri is the only Naegleria spp. known to cause an acute, fulminant, and rapidly fatal central nervous system infection in humans called primary amebic meningoencephalitis (PAM). In 2016, a patient with suspected PAM was found in Zhejiang Province of China. The pathogen was identified by microscopic examination and PCR. The positive PCR products were sequenced and the sequences were aligned using the NCBI BLAST program. The homologous and phylogenetic analysis was conducted using MEGA 6 program. On microscopy of direct smears, motile cells with pseudopodia were observed, and the motion characteristics of the pseudopodia as well as the cell morphology suggested that the pathogens were amoeba trophozoites. Wright-Giemsa-stained smears showed amoeba trophozoites of various shapes, which measured 10-25μm in size; these were characterized by a prominent, centrally placed nucleolus and a vacuolated cytoplasm. PCR was negative for Entamoeba histolytica and Entamoeba dispar, but positive for Naegleria spp. and N. fowleri. The nucleotide sequences acquired in this study have been submitted to GenBank with accession numbers KX909928 and KX909927, respectively. The BLAST analysis revealed that the sequences of KX909928 and KX909927 had 100% similarity with the sequence of the N. fowleri gene (KT375442.1). Sequence alignment and the phylogenetic tree revealed that the N. fowleri collected in this study was classified as genotype 2 and was most closely related to Naegleria lovaniensis. This study confirmed N. fowleri as the agent responsible for the infection in this patient. PAM normally progresses rapidly and is generally universally fatal within a week. Unfortunately this patient died at 2 weeks after the onset of symptoms.

PMID: 29751112 [PubMed - indexed for MEDLINE]

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]