Multi-system atrophy (MSA) is characterized by symptoms of autonomic failure, such as orthostatic hypotension and constipation. When intensive bowel motility problems are seen in elderly patients with MSA, Ogilvie Syndrome is kept in mind the management, before surgery.

Envenoming syndrome from Africanized bee stings is a toxic syndrome caused by the inoculation of large amounts of venom from multiple bee stings, generally more than five hundred. The incidence of severe toxicity from Africanized bee stings is rare but deadly. This report reveals that because of the small volume ...

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease entity usually occurring in children. In the present study a case of TINU syndrome in an elderly patient is described and relevant literature is reviewed. A 61-year-old man presented with bilateral flank pain, urinary frequency, and foamy urine. A kidney ...

Shelf syndrome occurs mainly in younger people (particularly athletes) and rarely in elderly people. We report on 3 elderly patients with a medial synovial plica causing severe pain and locked knees. They had had no symptoms in their early or middle life. After removal of the shelf, the symptoms improved ...

Hemochromatosis is associated with increased risk of hematological neoplasias, but studies showing hemochromatosis gene mutations in myelodysplastic syndrome (MDS) are scanty, particularly in the elderly. The onset of MDS in hemochromatosis usually occurs between 60 and 70 years of age, while cases with advanced age are very rare. We report ...

Gastric antral vascular ectasia (GAVE) is a well-recognized albeit rare cause of gastro-intestinal (GI) bleeding. It classically presents in an elderly female as iron-deficiency anemia due to chronic blood loss. The association of GI blood loss with aortic stenosis (AS) has been popularized as Heydes syndrome (HS). We report a ...

Gastric outlet obstruction caused by duodenal impaction of a large gallstone migrated through a cholecystoduodenal fistula has been referred to as Bouveret's syndrome. We present a case of gallstone-induced duodenal obstruction in an elderly female patient, diagnosed on a 64-slice MDCT scanner. One-stage surgery, that is, stone removal and cholecystectomy, ...

References: 1. Loudin MG, Eastwood Leung HC, Gurusiddappa S et al. Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. Nature Leukemia 2011: 25, 1555-1563. 2. Maloney KW, Carroll WL, Carroll AJ et al. Down syndrome childhood acute lymphoblastic leukemia has a ...

Compartment syndrome is a limb-threatening and life-threatening emergency resulting from elevated intracompartmental pressure. Prompt surgical intervention and treatment are necessary to prevent irreparable damage to muscle and nerve tissues. Leukemic infiltration of the muscle is an unusual cause of compartment syndrome and has been documented to occur secondary to hyperleukocytic ...

Sweet's syndrome (acute febrile dermatosis) is characterized by fever, peripheral neutrophil leukocytosis, acute onset of tender erythematous skin lesions (papules, nodules or plaques), and histological findings of a dense infiltrate consisting predominantly of mature neutrophils. Malignancy-associated Sweet's syndrome constitutes approximately 21% of patients, the majority of whom suffer from hematologic ...

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and its prognosis has considerably improved over the past 2 decades due to new therapeutic approaches. In some cases, however, it can develop very rapidly and cause possibly fatal complications. We report on the case of an 11-year-old boy with ...

Children with Down syndrome (DS) bear an increased risk of acute lymphoblastic leukemia (ALL) and treatment complications. We compared blood counts and toxicities in 22 DS and 44 non-DS ALL patients. Patients with DS had deeper, longer neutrophil and monocyte count nadirs; more toxicities (HR 2.0, P = 0.0005); longer hospitalizations (HR ...

BACKGROUND: All-trans retinoic acid (ATRA) is a vitamin A derivative that is used in combination with chemotherapy to treat acute promyelocytic leukemia (APL). A serious complication of ATRA is retinoic acid syndrome (RAS), which is characterized by an inflammatory reaction with capillary leakage and myeloid cell tissue invasion that presents ...

Do patients with therapy-related acute myeloid leukemia (t-AML) have a poor prognosis independent of other predictive variables such as cytogenetics or molecular determinants? Limited data exist to answer this question in part because t-AML is often considered together with AML following myelodysplastic syndromes (MDS) in the category of secondary AML. ...

Myelodysplastic syndromes (MDS) are hematopoietic neoplasms characterized by an ineffective hematopoiesis associated with cytopenia(s), functional abnormalities of bone marrow lineages, morphologic dysplasia, and a progression to acute myeloid leukemia. The pathogenesis of MDS is exceedingly complex and involves the hematopoietic stem cells/hematopoietic precursors, bone marrow microenvironment, and complex interaction between ...

Background. Although lenalidomide is very effective in the treatment of anemia of lower risk myelodysplastic syndromes with 5q deletion (del 5q), some concerns have been raised over the fact that it could trigger progression to acute myeloid leukemia in some patients. Design and Methods. We treated 95 transfusion dependent lower ...

Myelodysplastic syndromes (MDS) are a group of clonal hematopoetic disorders marked by ineffective hematopoiesis, peripheral cytopenias, and an increased risk of transformation to acute myeloid leukemia. Multiple processes govern hematopoietic progenitor proliferation and natural differentiation into mature myeloid elements. Molecular events that disrupt any of these processes have the potential ...

We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency ...

The myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by cytopenias, dysplastic changes in the hematopoietic precursors, and an increased risk of evolving into acute leukemia. Treatment for patients with MDS ranges from supportive care with blood products and/or growth factors up to allogeneic stem ...

A 66-year-old male with ischaemic cardiomyopathy and chronic lymphocytic leukemia developed signs of severe systemic inflammatory response syndrome. Serial blood cultures were negative and a SeptiFast test detected the presence of Aspergillus fumigatus DNA. Afterwards, detection of galactomannan and 1,3-β-d-glucan showed a positive result. Autopsy revealed the presence of branched ...

Abstract We report 67 patients with acute erythroid leukemia (erythroleukemia) based on WHO 2008 classification. With reviewing clinicopathologic features, cytogenetics, and outcomes, the characteristics of erythroleukemia resemble myelodysplastic syndromes. Patients with poor performance status, advanced anemia and poor risk cytogenetics had significantly inferior outcomes. International prognostic scoring system (IPSS) for ...

Epigenetic changes play an important role in cancer pathogenesis. Hypermethylation of DNA generally results in decreased expression of tumor suppressor genes and defective cell cycle control; This is a hallmark of myelodysplastic syndromes (MDS) and acute myeloid leukemia. Fortunately, epigenetic changes are potentially reversible and thus remain an attractive target ...

Acute promyelocytic leukemia (APL) may appear rarely as a late complication of the treatment of other primary cancers. Therapy-related APL (tAPL) differs from de novo APL in epidemiological and clinical parameters but shares common molecular signatures and does not differ in survival end- points. We describe a 67-year-old female patient ...

Juvenile Myelomonocytic Leukemia (JMML) is a relentlessly progressive myeloproliferative/myelodysplastic (MPD/MDS) hematopoietic disorder more common in patients with any one of at least three distinct genetic lesions, specifically NF1 gene loss and PTPN11 and NRAS mutations. NF1 and PTPN11 are molecular lesions associated with Neurofibromatosis Syndrome Type I (NF1 Syndrome) and ...

Numb chin syndrome is a sensory neuropathy of the inferior alveolar branch of the trigeminal nerve, characterized by unilateral numbness of the chin, the lower lip and the buccal and gingival mucosa. We report a girl with acute lymphoblastic leukemia of B-cell type who initially presented with numb chin syndrome ...

The World Health Organization separates acute erythroid leukemia (erythropoiesis in ≥50% of nucleated bone marrow cells; ≥20% myeloblasts of non-erythroid cells) from other entities with increased erythropoiesis - acute myeloid leukemia with myelodysplasia-related changes (≥20% myeloblasts of all nucleated cells) or myelodysplastic syndromes - and subdivides acute erythroid leukemia into ...

BACKGROUND: Parotidectomy is a common procedure and Frey's syndrome (gustatory sweating) is a common side effect. The current literature was assessed concerning the effectiveness of the sternocleidomastoid muscle (SCM) flap to prevent Frey's syndrome after parotidectomy. METHODS: A bibliography search was conducted for studies published between 1966 and 2010 and ...

Radiofrequency catheter ablation of accessory bypass tracts has become a widely accepted therapy for Wolff-Parkinson-White (WPW) syndrome. The procedure typically has a high success rate with a low incidence of complications. Left ventricular perforation is a rare but serious complication of catheter ablation. Here we describe a patient who developed ...

The case reported here was that of an old woman characterized by pancytopenia, chromosome clonal abnormality, fluctuation of the percent of blast cells at 20%, and negative evidence of malignancy in whole-body 2-[F18] fluoro-2-deoxy-d-glucose positron emission tomography (F18-FDG PET). After about 10 months, the blast cells accounted for about 25%, ...

Extrapontine myelinolysis in association with the more common central pontine variety is increasingly reported. Although typically associated with rapid correction of hyponatraemia, myelinolysis is also seen when sodium correction occurs at recommended rates. We present a 60-year-old man who developed hyponatraemia and hypokalaemia due to repeated vomiting. An acute symmetric ...

Pure erythroid leukemia (PEL) is an extremely rare disorder characterized by neoplastic proliferation of immature erythroblasts. A 66-year-old man, who had received chemoradiotherapy for hypopharyngeal cancer, was admitted because of pancytopenia. Bone marrow was infiltrated with 81% proerythroblasts positive for CD71 and CD235a. An increased number of macrophages with active ...

Differentiation syndrome (DS) represents a life-threatening complication in patients with acute promyelocytic leukemia (APL) undergoing induction therapy with all-trans retinoic acid (ATRA) or arsenic trioxide (ATO). It affected about 20-25% of all patients and so far there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever ...

A 23-year-old female was diagnosed as having simultaneous ulcerative colitis (UC) relapse and hypereosinophilic syndrome (HES)/chronic eosinophilic leukemia (CEL) without FIP1L1-platelet-derived growth factor receptor alpha (PDGFRA) (F/P) fusion gene. Pathological findings of colon specimens were compatible with UC, however, focal severe infiltration of eosinophils was observed in the rectum, which ...

Although adults with Down syndrome (DS) show a decreased incidence of cancer compared to individuals without DS, children with DS are at an increased risk of leukemia. Nearly half of these childhood leukemias are classified as acute megakaryoblastic leukemia (AMKL), a relatively rare subtype of acute myeloid leukemia (AML). Here, ...

Differentiation syndrome (DS), formerly known as retinoic acid syndrome, is the main life-threatening complication of therapy with differentiating agents (all-trans retinoic acid [ATRA] or arsenic trioxide [ATO]) in patients with acute promyelocytic leukemia (APL). The differentiation of leukemic blasts and promyelocytes induced by ATRA and/or ATO may lead to cellular ...

PURPOSE:To report an unusual case of interface fluid syndrome after refractive surgery. METHODS:A 37-year-old man with high myopia underwent a planned bioptics procedure including creation of a corneal flap using a mechanical microkeratome and concurrent anterior chamber phakic intraocular lens implantation; excimer laser ablation was not performed at this time. ...

Gastroenteropancreatic (GEP) neuroendocrine tumors (NETs) are relatively rare neoplasms that characteristically synthesize and secrete an excess of a variety of regulatory peptides, hormones, and neuroamines, which regulate gut and pancreatic function. This excess can lead to distinct clinical syndromes. Therapeutic strategies include surgery, radiofrequency ablation, chemotherapy, chemoembolization, and biotherapy using ...

Childhood myelodysplastic syndrome (MDS) is an uncommon condition. Unlike adult MDS, pediatric patients have a more progressive course and rapidly transform to acute myeloid leukemia. Evolution to acute lymphoblastic leukemia is extremely rare. We report a 5 year old female child who presented with refractory anemia with excess blasts and transformed ...

An 82-year-old man presented with a two-week history of three painful, inflamed nodules on his lower extremities with symmetric arthritis of multiple joints. He was under the care of hospice for end-stage acinar cell carcinoma of the pancreas. His serum amylase and lipase levels were markedly elevated. An incisional biopsy ...

Klinefelter's syndrome is characterized by abnormal karyotype 47, XXY and a phenotype associated with hypogonadism and gynecomastia. Often the disease can be diagnosed accidentally, when carrying out cytogenetic analysis in cases of a malignant blood disease. We present the clinical case of a patient diagnosed with acute myelomonoblastic leukemia-M4 Eo ...

Pancreatitis presenting without abdominal pain is very unusual. Here we report a 70-year-old man with chronic calcific pancreatitis presented to us with prolonged fever, arthritis and multiple subcutaneous swellings, but without any abdominal pain or other abdominal symptoms. His serum amylase and lipase were very high. Biopsy from the subcutaneous ...

Acute recurrent pancreatitis in children can be caused by anomalies of fusion of pancreatic ducts such as the dominant dorsal duct syndrome wherein a dominant dorsal pancreatic duct is associated with stenosis of the minor papilla. Clinical presentations and management of 2 patients are discussed. An infant presented with severe ...

CONTEXT: "Low-risk" branch duct intraductal papillary mucinous neoplasm (IPMN) is defined as pancreatic epithelial cellular proliferation of small branch ducts that lack malignant characteristics. At present, our understanding of the natural history of "low-risk" branch duct IPMN is still evolving. Lady Windermere syndrome is a disorder seen in non-smoking women ...

A 65-year-old man with myelodysplastic syndrome (MDS) was admitted for progressive jaundice. Diffuse pancreatic swelling and stricture of the main pancreatic duct were observed with elevated serum levels of direct bilirubin, aspartate transaminase, alanine transaminase, alkaline phosphatase, gammaGTP and amylase, and impaired glucose tolerance. Serum IgG and IgG4 levels were ...

Pancreatitis presenting without abdominal pain is very unusual. Here we report a 70-year-old man with chronic calcific pancreatitis presented to us with prolonged fever, arthritis and multiple subcutaneous swellings, but without any abdominal pain or other abdominal symptoms. His serum amylase and lipase were very high. Biopsy from the subcutaneous ...

BACKGROUND & AIMS: Alagille syndrome is an autosomal dominant disorder caused by mutations in Notch signaling pathway genes, usually JAGGED1. Up to 40% of Alagille syndrome patients also display exocrine pancreatic insufficiency, the pathobiology of which is unknown. Additionally, no mouse model recapitulating this aspect of the disease has been ...

Rapunzel, the girl with long golden tresses in the fairy tale, inspired Vaughan et al to describe, in 1968, cases of trichobezoar with a long tail causing bowel obstruction as "Rapunzel syndrome." A 22-year-old Egyptian woman had been suffering from episodes of epigastric pain and vomiting throughout her pregnancy and ...

BACKGROUND AND OBJECTIVE: Lobular panniculitis, together with polyarthritis and intraosseous fat necrosis, may occasionally complicate pancreatic disease. This triad is known in the literature as the pancreatitis, panniculitis, and polyarthritis (PPP syndrome). We describe a case of the PPP syndrome and review the available literature to summarize the clinical characteristics ...

The familial atypical multiple mole melanoma (FAMMM) syndrome is caused by a germline mutation of p16. More than 90% of the sporadic pancreatic carcinomas contain genetic alterations that inactivate p16. Patients with the FAMMM syndrome have an increased risk of developing pancreatic cancer. Ductal adenocarcinoma is the most common cancer ...

Out of a series of 30 French patients with Pearson syndrome, we report on two patients with an atypical presentation, which include growth deficiency, pancytopaenia, tubulopathy and absence of exocrine pancreas dysfunction. Patient 1, a 4-year-old boy with a past history of pancytopaenia and transient metabolic acidosis at 13 months ...