Gastric neuroendocrine neoplasias: manifestations and comparative outcomes.

Endocr Relat Cancer. 2019 Jul 01;:

Authors: Felder S, Jann H, Arsenic R, Denecke T, Prasad V, Knappe-Drzikova B, Maasberg S, Wiedenmann B, Pavel ME, Pascher A, Pape UF

Abstract
Although gastric neuroendocrine neoplasias (gNEN) are an orphan disease, their incidence is rising. The heterogeneous clinical course powers the ongoing discussion of the most appropriate classification system and management. Prognostic relevance of proposed classifications was retrospectively analyzed in 142 patients from a single tertiary referral centre. Baseline, management and survival data were acquired for statistical analyses. The distribution according to the clinicopathological typification were: gNEN-1 (n=86/60.6%), gNEN-2 (n=7/4.9%) gNEN-3 (n= 24/16.9%) and gNEN-4 (n=25/17.6%); while hypergastrinemia-associated gNEN-1 and -2 were all low grade tumours (NET-G1/2), formerly termed sporadic gNEN-3 could be subdivided into gNEN-3 with grade 1 or 2 and gNEN-4 with grade 3 (NEC-G3). During follow-up 36 patients died (25%). The mean overall survival (OS) of all gNEN was 14.2 years. The OS differed statistically significant across all subgroups with either classification system. According to UICC 2017 TNM classification OS differed for early and advanced stages, while WHO-grading indicated poorer prognosis for NEC-G3. Cox regression analysis confirmed the independent prognostic validity of either classification system for survival. Particularly careful analysis of the clinical course of gNEN-1 (ECLomas, gastric carcinoids) confirmed their mostly benign, but recurrent and extremely slowly progressive behaviour with low risk of metastasis (7%) and an efficient long-term control by repetitive endoscopic procedures. Our study provides evidence for the validity of current classifications focusing on typing, grading and staging. These are crucial tools for risk stratification, especially to differentiate gNEN-1 as well as sporadic gNET and gNEC (gNEN-3 vs. -4).

PMID: 31272081 [PubMed - as supplied by publisher]

Targeting angiosarcomas of the soft tissues: A challenging effort in a heterogeneous and rare disease.

Crit Rev Oncol Hematol. 2019 Jun;138:120-131

Authors: Weidema ME, Versleijen-Jonkers YMH, Flucke UE, Desar IME, van der Graaf WTA

Abstract
Angiosarcomas are rare malignant tumors with a heterogeneous clinical presentation and generally poor prognosis. It has been difficult to establish consistent molecular characteristics and driver events in angiosarcoma development. Oncogenic and angiogenesis-related pathways have been investigated pre-clinically and clinically with varying results. A few promising responses to checkpoint inhibitors have been described, but immunological features require further elucidation. With this review we present an overview of the critical biological pathways and processes affected in angiosarcoma, and their potential role in novel, non-cytotoxic, systemic treatments.

PMID: 31092367 [PubMed - indexed for MEDLINE]

Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases.

Paediatr Drugs. 2019 Apr;21(2):95-106

Authors: Semler O, Rehberg M, Mehdiani N, Jackels M, Hoyer-Kuhn H

Abstract
Increasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g., in osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia and fibrodysplasia ossificans progressiva). Most of the drugs developed are specifically designed agents interacting with the disease-specific cascade of enzymes and proteins involved. While some are approved (asfotase alfa, burosumab), others are currently being investigated in phase III trials (denosumab, vosoritide, palovarotene). To offer a multi-disciplinary therapeutic approach, it is recommended that patients with rare skeletal disorders are treated and monitored in highly specialized centers. This guarantees the greatest safety for the individual patient and offers the possibility of collecting data to further improve treatment strategies for these rare conditions. Additionally, new therapeutic options could be achieved through increased awareness, not only in the field of pediatrics but also in prenatal and obstetric specialties. Presenting new therapeutic options might influence families in their decision of whether or not to terminate a pregnancy with a child with a skeletal disease.

PMID: 30941653 [PubMed - indexed for MEDLINE]

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 2019/07/04

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 2019/07/04

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.

What can independent research for mesothelioma achieve to treat this orphan disease?

Expert Opin Investig Drugs. 2019 Jul 01;:1-14

Authors: Guazzelli A, Meysami P, Bakker E, Bonanni E, Demonacos C, Krstic-Demonacos M, Mutti L

Abstract
Introduction: Malignant pleural mesothelioma (MPM) is a rare neoplasm with a poor prognosis, as current therapies are ineffective. Despite the increased understanding of the molecular biology of mesothelioma, there is still a lack of drugs that dramatically enhance patient survival. Area Covered: This review discusses recent and complete clinical trials supported by the NIH, other U.S. Federal agencies, universities and organizations found on clinicaltrials.gov. Firstly, chemotherapy-based trials are described, followed by immunotherapy and multitargeted therapy. Then we introduce drug repositioning and the use of drug docking as tools to find new interesting molecules. Finally, we highlight potential molecular pathways that may play a role in mesothelioma biology and therapy. Expert Opinion: Numerous biases are present in the clinical trials due to a restricted number of cases, inappropriate endpoints and inaccurate stratification of patients which delay the finding of a treatment for MPM. The most crucial issue of independent research for MPM is the lack of more substantive funding to translate these findings to the clinical setting. However, this approach is not necessarily scientific given the low mutational load of mesothelioma relative to other cancers, and therefore patients need a more solid rationale to have a good chance of successful treatment.

PMID: 31262194 [PubMed - as supplied by publisher]

Gallbladder Hydrops Associated With Kawasaki Disease: A Case Report and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):341-343

Authors: Sun Q, Zhang J, Yang Y

PMID: 28952362 [PubMed - indexed for MEDLINE]

Osteochondroma of the Hyoid: First Pediatric Case and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):307-310

Authors: Raggio BS, Ficenec S, Flowers TC, Lawlor C, Rodriguez K

Abstract
Osteochondromas, the most common benign bone tumors, are cartilaginous neoplasms of unknown origin with rare malignant potential. Osteochondromas rarely occur in the head and neck, and diagnosis relies on a combination of clinical, radiological, and histological criteria. Excision is often curative. We describe the first reported case of hyoid osteochondroma in an adolescent male with multiple osteochondroma, discuss its surgical management, and perform a review of the salient literature. Osteochondroma represents a rare diagnosis to include in the differential of any midline neck mass.

PMID: 28728426 [PubMed - indexed for MEDLINE]

Neonatal Lemierre Syndrome: Youngest Reported Case and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):294-299

Authors: Raggio BS, Grant MC, Rodriguez K, Cripe PJ

Abstract
A previously healthy 5-week-old female was admitted for sepsis secondary to methicillin-resistant Staphylococcus aureus (MRSA) bacteremia. After several days of hospitalization, she experienced acute decompensation in mental status despite having received targeted antibiotic therapy. Imaging revealed left peritonsillar/parapharyngeal space abscess, left venous thrombophlebitis of the internal jugular vein, and septic emboli of the lungs and brain consistent with Lemierre syndrome. Bedside needle aspiration of the parapharyngeal abscess confirmed MRSA involvement. Unfortunately, the patient continued to deteriorate over the next several days and life support was withdrawn on hospital day 16. We present the youngest reported case of Lemierre syndrome and review the literature.

PMID: 28719983 [PubMed - indexed for MEDLINE]

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 2019/07/02

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.

18 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 2019/06/30

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.

18 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 2019/06/30

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.

16 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 2019/06/27

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.

14 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 2019/06/27

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.

14 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 2019/06/25

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.

Challenges of diagnosing and managing bronchiectasis in resource-limited settings: a case study.

Pan Afr Med J. 2019;32:82

Authors: Adetiloye A, Erhabor G, Awopeju O, Adewole O, Onini E, Adewuya O

Abstract
Bronchiectasis, once an orphan disease is now gaining renewed attention as a significant cause of morbidity and mortality. It is a morphologic term used to describe abnormal, irreversibly dilated and thick-walled bronchi, with many etiologies. The management of bronchiectasis can be challenging because its pathogenetic mechanisms is still evolving. Its diagnosis and management is particularly more demanding especially in resource-limited settings like Nigeria because of delayed diagnosis and improper management with devastating consequences, hence this case study.

PMID: 31223373 [PubMed - in process]

Ultra-orphan lysosomal storage diseases: a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

J Inherit Metab Dis. 2019 Jun 20;:

Authors: Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M

Abstract
PURPOSE: Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disorder caused by a deficiency of the enzyme alpha-mannosidase. Recently, enzyme replacement therapy was approved in the European Union for the treatment of alpha-mannosidosis, but evaluation regarding long-term efficacy and safety is hard to assess due to missing quantitative natural history data, in particular survival.
METHODS: We performed a quantitative analysis of published cases (N=111) with alpha-mannosidosis. Main outcome measures were age of disease onset, diagnostic delay and survival (overall and by subgroup exploration). Residual alpha-mannosidase activity and age of onset were explored as potential predictors of survival. STROBE criteria were respected.
RESULTS: Median age of onset was 12 months. Median diagnostic delay was 6 years. At the age of 41 years 72.3% of patients were alive (N=111). Residual alpha-mannosidase activity (N=34) predicted survival: Patients with a residual alpha-mannosidase activity below or equal to 4.5% of normal in fibroblasts had a median survival of 3.5 years, whereas patients with alpha-mannosidase activity above this threshold all survived during the observation period reported. Patients with age of onset above 7 years survived significantly longer than patients with age of onset below or equal to 7 years. Patient distribution was panethnic with hotspots in the USA and Germany.
SYNOPSIS: We defined age of onset, diagnostic delay and survival characteristics in a global cohort of 111 patients with alpha-mannosidosis by retrospective quantitative natural history modeling. These data expand the quantitative understanding of the clinical phenotype. This article is protected by copyright. All rights reserved.

PMID: 31222755 [PubMed - as supplied by publisher]

[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].

G Ital Nefrol. 2018 May;35(3):

Authors: Conte E, Imbrici P, Sahbani D, Liantonio A, Conte D

Abstract
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. Specific therapy for BS is lacking and the only pharmacotherapy up today available is purely symptomatic and characterized by limiting side effects. The improvement of our understanding of the phenotype/genotype correlation and of the precise pathogenic mechanisms associated with BS type 3 as well as the pharmacological characterization of ClC-K chloride channels are fundamental to design therapies tailored upon patients' mutation. This mini review focused on recent studies representing relevant forward steps in the field as well as noteworthy examples of how basic and clinical research can cooperate to gain insight into the pathophysiology of this renal channelopathy, paving the way for a personalized therapy.

PMID: 29786180 [PubMed - indexed for MEDLINE]

Children's rare disease rehabilitation: from multidisciplinarity to the transdisciplinarity approach.

Eur J Phys Rehabil Med. 2019 Feb;55(1):136-137

Authors: Trabacca A, Russo L

Abstract

PMID: 29099161 [PubMed - indexed for MEDLINE]

Rare case of severe acute pancreatitis following over-the-scope clip-assisted duodenal endoscopic mucosal resection using a cap-fitted endoscope in a patient with pancreas divisum.

Dig Endosc. 2018 09;30(5):679

Authors: Tashima T, Ryozawa S, Ohata K

PMID: 29856503 [PubMed - indexed for MEDLINE]