Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Ann Neurol. 2018 Jan 12;:

Authors: Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC

Abstract
OBJECTIVE: Nemaline myopathy (NM) is one of the most common congenital non-dystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (i.e. NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 patients.
METHODS: To test this hypothesis, we performed contractility measurements in individual muscle fibers and myofibrils obtained from muscle biopsies of fourteen NEM3 patients with different ACTA1 mutations. To identify the structural basis for impaired contractility, low angle x-ray diffraction and stimulated emission-depletion microscopy were applied.
RESULTS: Our findings reveal that muscle fibers of NEM3 patients display a reduced maximal force generating capacity, which is caused by dysfunctional sarcomere contractility in the majority of patients, as revealed by contractility measurements in myofibrils. Low angle x-ray diffraction and stimulated emission-depletion microscopy indicate that dysfunctional sarcomere contractility in NEM3 patients involves a lower number of myosin heads binding to actin during muscle activation. This lower number is not the result of reduced thin filament length. Interestingly, the calcium sensitivity of force is unaffected in some patients, but decreased in others.
INTERPRETATION: Thus, dysfunctional sarcomere contractility is an important contributor to muscle weakness in the majority of NEM3 patients, information which is crucial for patient stratification in future clinical trials. This article is protected by copyright. All rights reserved.

PMID: 29328520 [PubMed - as supplied by publisher]

CAPD Catheter Exit-Site and Tunnel Infection with Fungal Etiology-Treatment and Catheter Reinsertion for an Extremely Rare Complication.

Perit Dial Int. 2017 Mar-Apr;37(2):237-239

Authors: Jhawar MS, Das J, George P, Luther A

Abstract
Fungal infection is an extremely rare etiology of exit-site and tunnel infection in patients on continuous ambulatory peritoneal dialysis (CAPD). There are few data available regarding its management-especially choice of antifungals, duration of therapy, and removal of catheter. There are no guidelines pertaining to reinsertion of the CAPD catheter following fungal exit-site and tunnel infection. This case report highlights Candida albicans as a rare cause of exit-site and tunnel infection of the CAPD catheter. The catheter was removed and the patient received appropriate antifungal therapy followed by reinsertion of the CAPD catheter and re-initiation on CAPD.

PMID: 28360371 [PubMed - indexed for MEDLINE]

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Hum Mutat. 2017 Feb;38(2):160-168

Authors: Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B

Abstract
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2 loss-of-function mutations. The present work describes the high-throughput screening, by differential scanning fluorimetry, of 10,000 low-molecular-weight compounds from a commercial library, to search for possible PCs for the enzyme PMM2. This exercise identified eight compounds that increased the thermal stability of PMM2. Of these, four compounds functioned as potential PCs that significantly increased the stability of several destabilizing and oligomerization mutants and also increased PMM activity in a disease model of cells overexpressing PMM2 mutations. Structural analysis revealed one of these compounds to provide an excellent starting point for chemical optimization since it passed tests based on a number of pharmacochemical quality filters. The present results provide the first proof-of-concept of a possible treatment for PMM2-CDG and describe a promising chemical structure as a starting point for the development of new therapeutic agents for this severe orphan disease.

PMID: 27774737 [PubMed - indexed for MEDLINE]

[Analysis of Social Network Support for Rare-Disease Patients From a Social Capital Perspective].

Hu Li Za Zhi. 2017 Oct;64(5):18-23

Authors: Tsai TF

PMID: 28948587 [PubMed - indexed for MEDLINE]

[Introduction to Genetic/Rare Disease and the Application of Genetic Counseling].

Hu Li Za Zhi. 2017 Oct;64(5):11-17

Authors: Chu SY, Weng CY

Abstract
Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare. The pathophysiology of genetic/ rare disease is very complicated. Individual disorders may have their own unique mechanisms (such as Fragile X syndrome), with most of these mechanisms still unclear or unknown. The symptoms and signs of genetic/rare disease thus present the greatest variabilities and cause difficulties in making diagnoses. Most related patients may present multiple congenital anomalies, metabolic disorders, growth and developmental delays, defects in cognition, neuromuscular abnormalities, and defects in vision, hearing or other organ functions. Symptomatic and supportive treatment still comprise a major component of treatment of genetic/rare disease (with the exception of special formulae for several inborn errors of metabolic disease and enzyme replacement therapy in some lysosomal storage disease). Poor self-care ability is common and the burden on caregivers is huge. Most rare disease patients are treated using a comprehensive rehabilitation program that begins during very early childhood, receive individual educational programs, and are continuously monitored with regard to their growth, developmental, and nutritional status. Inter-professional patient care, genetic counseling, and the creation of family support networks play an important role in family management. Public awareness and the creation of appropriate social systems and resources allocation are mandatory for proper care. The incidence of each genetic/rare disease is rare, but collectively they are important public health issue and a challenge to medical care.

PMID: 28948586 [PubMed - indexed for MEDLINE]

Workshop Proceedings: Streamlined Development of Safety Assessment Programs Supporting Orphan/Rare Diseases-Are We There Yet?

Int J Toxicol. 2016 Jul;35(4):393-409

Authors: Allamneni KP, Parker S, O'Neill CA, Wright TL, King S, Andrews L

Abstract
A workshop entitled "Streamlined Development of Safety Assessment Programs Supporting Orphan/Rare Diseases-Are We There Yet?" was held at the 36th Annual Meeting of the American College of Toxicology in Summerlin, Nevada. The workshop was sponsored by Shire and Ultragenyx and was designed to present the nonclinical considerations for the development of various products for rare diseases. A panel of experts from industry and government highlighted the nonclinical considerations in developing toxicology programs supporting rare disease therapeutics, challenges in preclinical safety assessment, reviewed the current guidance, and presented the progress that has been made to date. The main learning from the workshop was that nonclinical testing of therapeutics targeting rare disease warrants special considerations, and early collaboration between sponsors and health authorities may help optimize the scope and timing of the supportive studies. Specific examples for nonclinical development programs for enzyme replacement therapy (ERT) were presented. Although the symposium focused on ERTs, the concepts are broadly applicable.

PMID: 27272885 [PubMed - indexed for MEDLINE]

[Rare syndromes in intensive care medicine : Presentation of two cases].

Med Klin Intensivmed Notfmed. 2016 Jun;111(5):400-6

Authors: Gierlinger A, Siostrzonek P, Reisinger J

Abstract
This article presents two cases of young women with spontaneous life-threatening bleeding events. Both had a history of gastrointestinal rupture or arterial dissection. Based on their medical history and genetic testing, Ehlers-Danlos syndrome (EDS) IV (vascular type) was diagnosed. In this very rare disorder which accounts for only 5 % of all EDS cases, fibroblasts synthesize reduced and abnormal procollagen type III. This is caused by mutations in the COL3A1 gene coding for type III procollagen. Life expectancy in these patients is significantly reduced. In many cases spontaneous arterial ruptures or dissections and organ ruptures are the first manifestations of this disease. More than 80 % of patients with EDS IV suffer from a severe complication before 40 years of age. Treatment options are very limited. Most important is to avoid invasive procedures (open surgery as well as endovascular interventions) because of its high morbidity and mortality. Celiprolol, a cardioselective β‑blocker, seems to have a beneficial effect by reducing the incidence of vascular complications.

PMID: 27259332 [PubMed - indexed for MEDLINE]

The promise of immunotherapy in anal squamous cell carcinoma: a novel approach for an orphan disease.

Clin Adv Hematol Oncol. 2017 Dec;15(12):968-961

Authors: Johnson B, Eng C

Abstract
An estimated 8200 men and women in the United States will receive a diagnosis of squamous cell carcinoma of the anal canal (SCCA) in 2017. Although SCCA is rare, accounting for 2.6% of gastrointestinal cancers, its incidence rate has been steadily increasing over the last few decades in the United States and around the world. More than 90% of cases of SCCA occur in the context of prior human papillomavirus (HPV) infection. To date, preventive vaccinations against HPV remain markedly underutilized. Most patients who have SCCA present with locoregional disease that is cured with chemoradiation. However, metastatic disease develops in 25% of patients. The management of metastatic SCCA is based on single-institutional case series, with no accepted consensus regarding standard of care. Given the complex interplay between the incorporation of HPV DNA into the host cell genome and the oncogenesis of SCCA, immunotherapeutic strategies have become a strong focus of research efforts regarding the management of SCCA. Recently, a phase 2 trial of an anti-programmed death 1 antibody for refractory SCCA has shown positive results. This review summarizes novel immunotherapies that are under active clinical investigation and describes their potential use in the management of metastatic SCCA.

PMID: 29315288 [PubMed - in process]

A Rare Case of Giant Basal Cell Carcinoma of the Abdominal Wall: Excision and Immediate Reconstruction with a Pedicled Deep Inferior Epigastric Artery Perforator (DIEP) Flap.

Am J Case Rep. 2017 Dec 04;18:1284-1288

Authors: Di Lorenzo S, Zabbia G, Corradino B, Tripoli M, Pirrello R, Cordova A

Abstract
BACKGROUND Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. CASE REPORT We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal lymph nodes and the abdominal wall was reconstructed immediately with a pedicled deep inferior epigastric artery perforator (DIEP) flap. CONCLUSIONS Treatment of giant basal cell carcinoma is often difficult, especially in elderly patients with poor general health and multiple pathologies. The pedicled DIEP flap is rotated to cover the loss of substance without tension, and it is easy to harvest and transfer. This flap allowed a good result without local or systemic complication. We present this report as a reminder of the occasional occurrence of extremely aggressive BCCs. We believe that, especially for rare tumors like these, it is very useful for the entire scientific community to publish these cases and the therapeutic strategies used to treat them.

PMID: 29199268 [PubMed - indexed for MEDLINE]

A Rare Case of Bochdalek Hernia with Concomitant Para-Esophageal Hernia, Repaired Laparoscopically in an Octogenarian.

Am J Case Rep. 2017 Nov 29;18:1261-1265

Authors: Susmallian S, Raziel A

Abstract
BACKGROUND A Bochdalek hernia (BH) is a rare congenital condition consisting of a posterolateral defect in the diaphragm. A para-esophageal hernia (PEH) is a rare variant of hiatus hernia. BH and PEH may present with gastric volvulus or incarceration, requiring emergency treatment. Minimally invasive surgery is the preferred treatment, particularly for elderly patients and patients with comorbidities. The occurrence of BH with concomitant PEH is a very rare event. We describe a case of an octogenarian patient with BH and concomitant PEH treated laparoscopically. CASE REPORT An 81-year-old male patient, without significant comorbidities, presented with a two-month history of severe chest pain and vomiting after eating. Cardiological investigations ruled out cardiac ischemia, infarction, or other cardiovascular abnormalities. Chest and abdominal computed tomography (CT) imaging demonstrated a large diaphragmatic hernia, with the entire stomach in the left thorax. Laboratory results showed mild anemia and a low iron level. The patient underwent simultaneous laparoscopic repair of a BH and a PEH with mesh reinforcement without antireflux fundoplication. The patient's postoperative recovery was uneventful. CONCLUSIONS We have presented a rare case of BH with concomitant PEH in an octogenarian that was successfully treated with laparoscopic surgery. Although these two forms of hernia are a very rare association, this case report illustrates that the surgical approach should be individualized in each patient's case to ensure a successful surgical outcome. In this case, the decision was made to suture the diaphragmatic crura and reinforce the diaphragm repair with mesh, rather than by fundoplication.

PMID: 29184050 [PubMed - indexed for MEDLINE]

Lead-related infective endocarditis: Factors influencing early and long-term survival in patients undergoing transvenous lead extraction.

Heart Rhythm. 2017 Jan;14(1):43-49

Authors: Polewczyk A, Jacheć W, Tomaszewski A, Brzozowski W, Czajkowski M, Opolski G, Grabowski M, Janion M, Kutarski A

Abstract
BACKGROUND: Lead-related infective endocarditis (LRIE) is a serious infectious disease with uncertain prognosis.
OBJECTIVE: The purpose of this study was to evaluate the factors that influence survival in patients with LRIE undergoing transvenous lead extraction (TLE).
METHODS: Clinical data obtained from 500 consecutive patients with LRIE undergoing TLE in the reference center in the years 2006 to 2015 were retrospectively analyzed. We evaluated the effect of demographic, clinical, and procedure-related factors on 30-day and long-term survival (mean 3-year follow-up).
RESULTS: Analysis of 30-day survival after TLE revealed 19 deaths (3.8%), with long-term mortality (mean 3-year follow-up) of 29.3% (146 deaths). Multivariate analysis showed unfavorable effects of age (hazard ratio [HR] 1.056, 95% confidence interval [CI] 1.030-1.082); decreased left ventricular ejection fraction (HR 0.687, 95% CI 0.545-0.866); renal failure (HR 3.099, 95% CI 1.865-5.150); and presence of vegetation fragments remaining after TLE (HR 1.384, 95% CI 1.089-1.760). Log-rank test and Kaplan-Meier survival curves demonstrated statistically worse prognosis in patients with large vegetations (>2 cm) and with vegetation remnants. Better prognosis was associated with LRIE coexisting with generator pocket infection.
CONCLUSION: Long-term mortality in LRIE patients is still high. Factors that influence negatively on prognosis include large cardiac vegetations and their remnants after TLE. Such vegetations develop most frequently in patients with decreased left ventricular ejection fraction and renal failure. Probably, early detection of LRIE would tend to limit the formation of large vegetations that invade the adjacent cardiac structures.

PMID: 27725287 [PubMed - indexed for MEDLINE]

A practical approach to ichthyoses with systemic manifestations.

Clin Genet. 2017 Jun;91(6):799-812

Authors: Saral S, Vural A, Wollenberg A, Ruzicka T

Abstract
Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field.

PMID: 27377997 [PubMed - indexed for MEDLINE]

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Trials and Tribulations: An Industry Perspective on Conducting Registrational Trials in Alpha-1 Antitrypsin Deficiency.

Ann Am Thorac Soc. 2016 Aug;13 Suppl 4:S374-7

Authors: Forshag MS

Abstract
Registrational trials in rare and orphan diseases present complexities related to the identification of subjects, recruitment, logistical hurdles incumbent with far-flung study sites, and end points that are often less well defined than are those used in more common illnesses. Alpha-1 antitrypsin deficiency is an orphan disease of genetic origin that carries the additional challenges of variable penetration and slow disease progression. Registrational trials of augmentation therapy using plasma-derived alpha-1 antitrypsin carry all of the above-noted burdens, as well as competition from commercially available augmentation therapy in many countries.

PMID: 27564675 [PubMed - indexed for MEDLINE]

Biological and molecular characterization of a rare case of cutaneous Richter syndrome.

Hematol Oncol. 2017 Dec;35(4):869-874

Authors: Reda G, Cassin R, Fabris S, Ciceri G, Fattizzo B, Sciumè M, Orofino N, Gianelli U, Neri A, Cortelezzi A

Abstract
Richter syndrome (RS) is the transformation of chronic lymphocytic leukemia in a high-grade lymphoma usually presenting nodal and bone marrow involvement. Richter syndrome can be localized at extranodal sites including the gastrointestinal tract, lungs, and skin. Cutaneous RS is an extremely rare disease apparently showing a less aggressive course than common presentations. While nodal RS has been extensively investigated in literature, pathogenesis and prognosis of cutaneous RS are still partially unknown, even if a role of Epstein-Barr virus infection and p53 disruption has been suggested. Herein, we characterized the histopathological, immunohistochemical features and cytogenetics and molecular alterations of a case of cutaneous RS developed after 8 years chronic lymphocytic leukemia history. Moreover, we reviewed the literature reports concerning cutaneous RS and made a focus on biological patterns and prognostic implications.

PMID: 27400669 [PubMed - indexed for MEDLINE]

What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints?

Rheumatology (Oxford). 2016 07;55(7):1151-2

Authors: Gallagher JA, Ranganath LR, Boyde A

PMID: 26712212 [PubMed - indexed for MEDLINE]

Philadelphia Chromosome Positive de novo Acute Myeloid Leukemia.

J Coll Physicians Surg Pak. 2016 Nov;26(11):100-102

Authors: Quraishi AM, Akram M, Saeed S, Tahir M

Abstract
Philadelphia chromosome positive de novoacute myeloid leukemia (AML)is a rare disease with reported incidence of less than 1% of newly diagnosed cases of AML. Outcome of the disease is poor, owing to its resistance to conventional chemotherapy and variable response to imatinib besylate. We report a case of 24-year man who reported to our unit in November 2014 and was treated with conventional induction and consolidation chemotherapy with imatinib besylate. He achieved complete remission after induction chemotherapy and remained in remission. His cytogenetics also reverted to normal after consolidation chemotherapy. He relapsed after 3 months of maintenance imatinib besylate.

PMID: 28666495 [PubMed - indexed for MEDLINE]

Update on rare epithelial ovarian cancers: based on the Rare Ovarian Tumors Young Investigator Conference.

J Gynecol Oncol. 2017 Jul;28(4):e54

Authors: Jang JYA, Yanaihara N, Pujade-Lauraine E, Mikami Y, Oda K, Bookman M, Ledermann J, Shimada M, Kiyokawa T, Kim BG, Matsumura N, Kaku T, Kuroda T, Nagayoshi Y, Kawabata A, Iida Y, Kim JW, Quinn M, Okamoto A

Abstract
There has been significant progress in the understanding of the pathology and molecular biology of rare ovarian cancers, which has helped both diagnosis and treatment. This paper provides an update on recent advances in the knowledge and treatment of rare ovarian cancers and identifies gaps that need to be addressed by further clinical research. The topics covered include: low-grade serous, mucinous, and clear cell carcinomas of the ovary. Given the molecular heterogeneity and the histopathological rarity of these ovarian cancers, the importance of designing adequately powered trials or finding statistically innovative ways to approach the treatment of these rare tumors has been emphasized. This paper is based on the Rare Ovarian Tumors Conference for Young Investigators which was presented in Tokyo 2015 prior to the 5th Ovarian Cancer Consensus Conference of the Gynecologic Cancer InterGroup (GCIG).

PMID: 28541641 [PubMed - indexed for MEDLINE]

Child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency: a cohort study of the French national registry for thrombotic microangiopathy.

Lancet Haematol. 2016 Nov;3(11):e537-e546

Authors: Joly BS, Stepanian A, Leblanc T, Hajage D, Chambost H, Harambat J, Fouyssac F, Guigonis V, Leverger G, Ulinski T, Kwon T, Loirat C, Coppo P, Veyradier A, French Reference Center for Thrombotic Microangiopathies

Abstract
BACKGROUND: Thrombotic thrombocytopenic purpura is a rare thrombotic microangiopathy, related to a severe ADAMTS13 deficiency (a disintegrin and metalloprotease with thromboSpondin type 1 repeats, member 13; activity <10% of normal). Childhood-onset thrombotic thrombocytopenic purpura is very rare and initially often misdiagnosed, especially when ADAMTS13 deficiency is acquired (ie, not linked to inherited mutations of the ADAMTS13 gene). We aimed to investigate initial presentation, management, and outcome of acquired thrombotic thrombocytopenic purpura in children.
METHODS: Between Jan 1, 2000, and Dec 31, 2015, we studied a cohort of patients with child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura included in the French national registry for thrombotic microangiopathies at presentation and during follow up. The inclusion criteria were: first episode before age 18 years; ADAMTS13 activity less than 10% of normal at presentation; positive anti-ADAMTS13 autoantibodies during an episode, or a recovery of ADAMTS13 activity in remission, or both. ADAMTS13 activity and anti-ADAMTS13 autoantibodies were investigated by a central laboratory, and medical records were extensively reviewed to collect clinical and biological features with a standardised form. This study is registered with ClinicalTrials.gov, number NCT00426686.
FINDINGS: We enrolled 973 patients with childhood-onset thrombotic microangiopathy, of whom 74 had a severe ADAMTS13 deficiency (activity <10%) at presentation. 24 patients had an inherited thrombotic thrombocytopenic purpura also known as Upshaw-Schulman syndrome and five did not have follow-up data available, thus 45 children had acquired thrombotic thrombocytopenic purpura and were included in our database at presentation. 25 (56%) patients had idiopathic disease and 20 (44%) had miscellaneous associated clinical conditions. At diagnosis, median age was 13 years (IQR 7-16, range 4 months-17 years), with a sex ratio of 2·5 girls to 1 boy. Anti-ADAMTS13 autoantibodies were positive in 37 (82%) of 45 patients (24 [96%] of 25 idiopathic cases and 13 [65%] of 20 non-idiopathic cases). 39 (87%) of 45 patients were given plasma therapy and 21 (47%) received additional rituximab. Four (9%) children died after the first thrombotic thrombocytopenic purpura episode. Long-term follow up of the 41 survivors showed that ten (24%) patients relapsed and systemic lupus erythematosus occurred in two (5%) patients. Preemptive rituximab was used in seven (17%) of 41 patients with acquired thrombotic thrombocytopenic purpura.
INTERPRETATION: Our study shows that child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura have specific clinical, biological and therapeutic features. Long-term follow-up is crucial to prevent relapses of the disease, to identify the occurrence of autoimmune disorders, and to evaluate consequences on social life. Child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura is a crucial diagnosis in the field of paediatric haematologic cytopenias because it is a life-threatening disease requiring a specific management.
FUNDING: Assistance Publique-Hôpitaux de Paris, France.

PMID: 27720178 [PubMed - indexed for MEDLINE]

Chondroid Syringoma.

Foot Ankle Spec. 2017 Apr;10(2):167-169

Authors: Sundling RA, So E, Logan DB

Abstract
Chondroid syringoma is a cutaneous sweat gland tumor. Despite its relative rarity, a benign and malignant variant have been described. We present a case report of chondroid syringoma of the foot in a healthy patient. Definitive diagnosis required histopathologic examination, while treatment included wide resection. Surgeons who are presented with a painless, solid nodule in the lower extremities should be cognizant of this neoplasm.
LEVELS OF EVIDENCE: Therapeutic, Level IV: Case report.

PMID: 27587378 [PubMed - indexed for MEDLINE]