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What is the Difference Between an Association and a Syndrome?

Discussion VATER association was first described in the 1970s with additional congenital malformations being added to the association so it is most often called VACTERL association. It is a highly heterogeneous, overlapping condition estimated to occur in ~1/10,000-40,000 births. The cause is unknown. In animal models, some signaling pathway gene mutations have phenotypes of VACTERL association. Experts suggest that patients having at least 2 components should be further evaluated (at least 3 for diagnosis) for VACTERL and other diseases in its differential diagnosis. There are more than 30 syndromes, mutations and diseases that have components of the malformations in VACTERL association. Alagille syndrome , CHARGE Syndrome, Blackfan-Diamond anemia, Holt-Oram syndrome, and Caudal regression syndrome are just a few examples. All signs and symptoms can be obvious or extremely subtle. Some symptoms may not occur until years later or be surreptitious. Most patients do not have all of the components. Facial and brain malformations are not common with VACTERL association. Treatment depends on the specific malformations and their extensiveness. Surgical treatment is often necessary to manage one or more problems. Components of the VACTERL association include: Vertebral malformation Occurs in 60-90% of patients Usually segmentation defects, can occur in any vertebrae Can also have rib anomalies and/or spinal curvature Can also have tethered cord and/or similar neurological anomal...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Abstract: Coccidioidomycosis is the major systemic mycoses, considered to be 1 of the most infectious fungal diseases. In symptomatic patients, the most common manifestation is pulmonary disease, but many other organs can be affected. Disseminated disease occurs in 1%–5% of all patients affected by coccidioidomycosis and can affect any organ, with the skin, central nervous system, and musculoskeletal system being reported as the most prevalent. Here, we report a 42-year-old male farmer from the west Texas who presented with an approximately 2-month history of progressive shortness of breath and dyspnea on exertion,...
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Extraordinary Case Report Source Type: research
CONCLUSION: Wearing kinesio tape for three consecutive days had beneficial effects regarding self-reported clinical outcomes of pain, joint stiffness and function. This emphasizes that kinesio taping might be an adequate conservative treatment for the symptoms of knee osteoarthritis. PMID: 29466081 [PubMed - as supplied by publisher]
Source: Journal of Sport Rehabilitation - Category: Sports Medicine Tags: J Sport Rehabil Source Type: research
CONCLUSIONS: Athletes with RC tendinopathy demonstrated less reduction of the SAS with rigid scapular taping during early arm abduction. Such observation was not evidenced in asymptomatic athletes. PMID: 29466076 [PubMed - as supplied by publisher]
Source: Journal of Sport Rehabilitation - Category: Sports Medicine Tags: J Sport Rehabil Source Type: research
Source: BMJ Education - Category: General Medicine Source Type: research
Source: BMJ News - Category: General Medicine Source Type: research
Pain is a clinical hallmark of sickle cell disease (SCD), and is rarely optimally managed. Cognitive-behavioral therapy (CBT) for pain has been effectively delivered through the Internet in other pediatric populations. We tested feasibility and acceptability of an Internet-delivered CBT intervention in 25 adolescents with SCD (64% female, mean age=14.8 y) and their parents randomized to Internet CBT (n=15) or Internet Pain Education (n=10). Participants completed pretreatment/posttreatment measures. Eight dyads completed semistructured interviews to evaluate treatment acceptability. Feasibility indicators included r...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
Background: Pericardial effusion (PE) is a known complication after hematopoietic stem cell transplant (HSCT). Limited data is currently available regarding the incidence and outcomes of PE in pediatric HSCT. Methods: We conducted a retrospective study on a cohort of patients who underwent HSCT between 2004 and 2015. Risk factors associated with development of PE were evaluated. Results: In 111 HSCT, stem cell source was bone marrow in 37 (33.3%), peripheral blood—42 (37.8%) and cord blood—32 (28.8%). Incidence of PE after HSCT was 37.8%. Insignificant effusion (trivial or small) was noted in 30 (27.0%)...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
The clinical outcome of allogeneic hematopoietic stem cell transplantation (HSCT) was retrospectively analyzed in 6 patients with leukocyte adhesion deficiency. Of 3 patients transplanted with myeloablative conditioning, 2 patients had complete chimerism and 1 patient had mixed chimerism. By contrast, all 3 patients transplanted with reduced-intensity conditioning (RIC) had mixed chimerism, one of whom progressed to secondary graft failure. All patients with low-level mixed chimerism and secondary graft failure were rescued by donor lymphocyte infusion or a second HSCT. RIC-HSCT is feasible for leukocyte adhesion deficienc...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
A 17 year old girl presented with a progressively increasing swelling in her neck since 9 months. On examination a2*3 cm, firm, pulsatile swelling was felt in the left anterior triangle. The CT scan of the mass was suggestive of a carotid body tumor and urinary cathecholamines were negative. The mass was excised completely.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Morphology Corner Source Type: research
A 4-year-old girl with severe aplastic anemia and 2 previous failed T-depleted haploidentical peripheral blood stem cell transplants developed persistent neutropenic fever and multiple erythematous maculopapular rashes 2 days after her third T-replete haploidentical bone marrow transplant. Skin biopsy confirmed the diagnosis of Trichosporon asahii infection. She was on caspofungin prophylaxis which is not effective against Trichosporon. A high index of suspicion, prompt investigation, and appropriate treatment with voriconazole for 4 months was instrumental in controlling the infection and she remains well presently 9 mont...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research
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