BACKGROUND: Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The aim of this study was to validate the ability of factors from the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system to discriminate between patients with GD1 and controls using real-world data from electronic patient medical records from Maccabi Healthcare Services, Israel\'s second-largest state-mandated healthcare provider.
METHODS: We applied the GED-C scoring system to 265 confirmed cases of GD and 3445 non-GD controls matched for year of birth, sex, and socioeconomic status identified from 1998 to 2022. The analyses were based on two databases: (1) all available data and (2) all data except free-text notes. Features from the GED-C scoring system applicable to GD1 were extracted for each individual. Patients and controls were compared for the proportion of the specific features and overall GED-C scores. Decision tree and random forest models were trained to identify the main features distinguishing GD from non-GD controls.
RESULTS: The GED-C scoring distinguished individuals with GD from controls using both databases. Decision tree models for the databases showed good accuracy (0.96 [95% CI 0.95-0.97] for Database 1; 0.95 [95% CI 0.94-0.96] for Database 2), high specificity (0.99 [95% CI 0.99-1]) for Database 1; 1.0 [95% CI 0.99-1] for Database 2), but relatively low sensitivity (0.53 [95% CI 0.46-0.59] for Database 1; 0.32 [95% CI 0.25-0.38]) for Database 2). The clinical features of splenomegaly, thrombocytopenia (< 50 × 109/L), and hyperferritinemia (300-1000 ng/mL) were found to be the three most accurate classifiers of GD in both databases.
CONCLUSIONS: In this analysis of real-world patient data, certain individual features of the GED-C score discriminate more successfully between patients with GD and controls than the overall score. An enhanced diagnostic model may lead to earlier, reliable diagnoses of Gaucher disease, aiming to minimize the severe complications associated with this disease.

The objective of this study was to derive some useful parameters to define the feasibility of laparoscopic splenectomy (LS) in massive [spleen longitudinal diameter (SLD)>20 cm] and giant spleens (SLD>25 cm). Between December 1996 and May 2017, 175 patients underwent an elective splenectomy. A laparoscopic approach was used in 133 (76%) patients. Massive spleens were treated in 65 (37.1%) patients, of which 24 were treated laparoscopically. In this subset of massive spleens, the results of laparoscopic splenectomy in massive spleens (LSM) and open splenectomy in massive spleens (OSM) were compared. The clinical outcome of a subgroup of patients with giant spleens was also analyzed. The LSM group resulted in significant longer operative times (143±31 vs. 112±40 min; P=0.001), less blood loss (278±302 vs. 575±583 mL; P=0.007), and shorter hospital stay (6±3 vs. 9±4 d; P=0.004). No conversions were experienced in the LSM group, and the morbidity rate was similar in both the LSM and OSM groups (16.6% vs. 20%; P=0.75). When considering the subset of 9 LSM patients and 26 OSM patients with giant spleens, the same favorable tendency of the laparoscopic group as regards surgical conversion, blood loss, and hospital stay was maintained. The laparoscopic approach can be successfully proposed in the presence of massive splenomegaly also after a careful preoperative evaluation of the expected abdominal \"working space.\" In experienced hands, LS is safe, feasible, and associated with better outcomes than open splenectomy for the treatment of massive and giant spleen, with a maximum SLD limit of 31 cm.

Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify \'at-risk\' patients who may benefit from diagnostic testing.
An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managing almost 3000 patients). The rounds entailed data gathering, then importance ranking and establishment of consensus, using 5-point Likert scales and scoring thresholds defined a priori.
For type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone-related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co-variables (family history of GD and Ashkenazi-Jewish ancestry) were identified. For type 3 disease, nine major signs (splenomegaly, oculomotor disturbances, thrombocytopenia, epilepsy, anaemia, hepatomegaly, bone pain, motor disturbances and kyphosis) and one major co-variable (family history of GD) were identified. Lack of disease awareness, overlooking mild early signs and failure to consider GD as a diagnostic differential were considered major barriers to early diagnosis.
The signs and co-variables identified in the GED-C initiative as potentially indicative of early GD will help to guide non-specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.

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BACKGROUND: The emergence of minimally invasive techniques has broadened interest in splenectomy for a variety of haematological illnesses. Laparoscopic splenectomy (LS) is currently considered the gold standard for the treatment of various haematological disorders.
OBJECTIVE: The literature was reviewed to highlight points of consensus and debatable points regarding best practice in LS, looking at issues such as bleeding and conversion, splenomegaly, splenic retrieval techniques, types of instruments used, hand-assisted LS (HALS), complications, approaches, accessory spleen and splenosis. Our goal was to share our experience with LS and compare it with other reports.
BACKGROUND: LS has emerged as the standard of care for elective splenectomy for benign haematological diseases. However, doubts have been raised regarding the suitability of patients with splenomegaly for LS. There is also uncertainty about its efficacy in major trauma. HALS has emerged as an option for safe manipulation and splenic dissection.
METHODS: We performed 25 consecutive LSs at King Abdullah University Hospital (KAUH), Jordan, from 2001 to 2008. Patient demographics, operative time, intra- and postoperative complications, conversion rate, additional procedures and length of hospital stay were retrospectively reviewed.
RESULTS: The mean age of the patients was 38.8 years (range 11-77 years), mean operative time was 132 minutes (90- 170 minutes), and length of hospital stay was 2.9 (standard deviation 2.7) days. One case was converted to open surgery (5%). There was 1 case of superficial wound infection in the series (5%), and no deaths.
CONCLUSIONS: LS is a well- accepted minimally invasive procedure, but knowledge and skill are required to perform it with minimal morbidity and mortality.

Many countries in Africa, including Sierra Leone, have adopted artemisinin-based combination therapy as first-line therapy for treatment of patients with malaria. Because laboratory testing is often unavailable in rural areas, the cost-benefit and viability of this approach may depend on accurately diagnosing malaria by using clinical criteria. We assessed the accuracy of syndromic diagnosis for malaria in three peripheral health units in rural Sierra Leone and determined factors that were associated with an accurate malaria diagnosis. Of 175 children diagnosed with malaria on syndromic grounds, 143 (82%) were confirmed by the Paracheck-Pf test. In a multivariate analysis, splenomegaly (P = 0.04) was the only clinical sign significantly associated with laboratory-confirmed malaria, and sleeping under a bed net was protective (P = 0.05). Our findings show that clinical malaria is diagnosed relatively accurately in rural Sierra Leone. Incorporating bed net use and splenomegaly into the national Integrated Management of Childhood Illness guidelines for evaluation of fever may further enhance diagnostic accuracy for malaria.

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Waldenstrom\'s macroglobulinemia (WM) is a malignant disorder of lymphoplasmacytic cells that produce a monoclonal immunoglobulin M (IgM). Since the original description by Jan Waldenström of three patients with symptoms of hyperviscosity due to circulating monoclonal IgM, the definition of WM has been controversial. Standardized criteria for diagnosis have now been proposed, including the presence of any IgM monoclonal protein and marrow and/or nodal lymphoplasmacytic cells. Although previous response criteria have generally incorporated parameters for monoclonal protein reduction and/or improvement of marrow/nodal involvement, specific and uniform response criteria are needed to facilitate comparisons of response, remission duration, progression-free survival, and overall survival in clinical trials similar to those previously established for other diseases such as chronic lymphocytic leukemia, lymphoma, and myeloma. This is of particular importance as new agents are developed and evaluated. This presentation represents consensus recommendations for uniform response criteria for use in assessing responses to treatment for patients with WM, which were prepared in conjunction with the Second International Workshop held in Athens, Greece during September 2002.

This presentation represents consensus recommendations on prognostic markers and criteria to initiate therapy in patients with Waldenstrom\'s macroglobulinemia (WM), which were prepared in conjunction with the Second International Workshop held in Athens, Greece during September 2002. The panel recommended that initiation of therapy should not be based on the IgM level per se since this may not correlate with the clinical manifestations of WM. The consensus panel agreed that initiation of therapy was appropriate for patients with constitutional symptoms such as recurrent fever, night sweats, fatigue due to anemia, or weight loss. The presence of progressive, symptomatic lymphadenopathy or splenomegaly provide additional reasons to begin therapy. The presence of anemia with a hemoglobin value of

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