Cysts ; Epididymitis ; Humans ; Male ; Orchitis ; Urinary Tract Infections

Management of Beta (β)-thalassaemia intermedia in contrast to β-thalassaemia major patients has no clear guidelines as to indicators of adequate transfusion. Regular blood transfusion suppresses bone marrow erythropoietic activity. Serum soluble transferrin receptor (sTfR) concentration is a marker for erythropoietic activity, with increased sTfR being associated with functional iron defi ciency and increased erythropoietic activity. This study aimed to determine the use of sTfR as an indicator of adequate transfusion in adult β-thalassaemia intermedia patients. A cross-sectional study was conducted at Hospital Ampang, Malaysia, for six months. Patient group included six β-thalassaemia intermedia and 34 HbE-β-thalassaemia transfused patients. None of the patients were on regular monthly blood transfusions as in β-thalassaemia major. The control group comprised of 16 healthy subjects with normal haematological parameters. Haemoglobin (Hb) analysis, sTfR and ferritin assays were performed. Hb and HbA percentages (%) were found to be signifi cantly lower in patients compared to the controls, while HbE%, HbF%, sTfR and ferritin were signifi cantly higher in patients. An inverse relationship was found in the controls between HbF% with Hb (r = -0.515, p < 0.05) and HbA% (r = -0.534, p < 0.05). In patients, sTfR showed an inverse relationship with HbA% (r = -0.618, p = 0.000) and a positive correlation with HbE% (r = 0.418, p = 0.007) and HbF% (r = 0.469, p = 0.002). Multivariate analysis showed that HbA% (r = 2.875, p = 0.048), HbE% (r = 2.872, p = 0.020) and HbF% (r = 2.436, p = 0.013) best predicted sTfR independently in patients. Thus, sTfR is a useful marker for erythropoiesis. The elevated sTfR in these patients indicate that the transfusion regimen used was inadequate to suppress ineffective erythropoiesis. Hb levels may not be the best target for monitoring transfusion treatment in β-thalassaemia intermedia patients, but the use of sTfR is helpful in individualising transfusion regimens.

Introduction: HbE is the commonest beta haemoglovin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of beta-globin E (βE) chain. Studies indicate HbE coinherited with α-thalassaemia leads to a milder clinical phenotype. This study investigates the concomitant inheritance of α-thalassaemia in Malays with HbE. Methods: Four hundred and fourteen (414) blood samples were screened for haemoglobinopathy using primarily the first 3 steps of the BHES [(B) blood counts, blood film: (H), HPLC; (E),elstrophoresis; (S),stability)] protocol. Complete blood counts were generated on an automated blood cell analyser, HB typing with cation exchange high-performance liquid chromatography (HPLC) and Hb typing with cation exchange high-performance liquid chromatography (HPLC) and Hb electrophoresis at an alkaline pH (pH 8.5). Forty-five (10.9%) were identified as HbE trait and DNA analysis was done for deletional α-thalassaemia using a single-tube multiplex-PCR assay. Results: Among the 45 subjects with HbE trait. 4 (8.9%) were found to have alpha-thalassaemia-2 (α⁺) (α-3.7 kb deletion) and 1 (2.2%) the alpha-thalassaemia-1 (α⁰) (—SEA 20.5kb deletion) defects respectively. Discussion: These findings show that 11.1% of Malays with HbE inherit alpha-thalassaemia concurrently. The most prevalent interaction found was a double heterozygote for HbE/α-thalassaemia 2, followed by HbE/α-thalassaemia 1. Conclusion: Molecular screening of deletional α-thalassaemia identified its concurrent inheritance in 11.1% of Malays who were HbE carriers. This information will guide genetic counseling and the planning of treatment modalities in patients with HbE alpha-thalassaemia.

BACKGROUND: Emergency physicians frequently encounter patients with acute small bowel obstructions (SBO). Although computed tomography (CT) imaging is the current gold standard in the assessment of patients with suspected SBO in the emergency department, a few studies have examined the use of ultrasound as an alternative imaging technique. METHODS: We evaluated the accuracy of ultrasound performed in the ED by a variety of providers (physicians with various levels of training, physician assistants) compared to CT imaging in 47 patients with suspected SBOs. RESULTS: Our data demonstrated a sensitivity of 93.8％ and a specificity of 93.3％ when compared to abdominal CT, and a sensitivity of 94.3％ and specificity of 95.2％ using a composite endpoint of abdominal CT and discharge diagnosis. CONCLUSION: Ultrasound can play an important role in the identification of small bowel obstructions in ED patients.

BACKGROUND: Tissue-engineered muscles (‘‘myobundles’’) offer a promising platform for developing a human in vitro model of healthy and diseased muscle for drug development and testing. Compared to traditional monolayer cultures, myobundles better model the three-dimensional structure of native skeletal muscle and are amenable to diverse functional measures to monitor the muscle health and drug response. Characterizing the metabolic function of human myobundles is of particular interest to enable their utilization in mechanistic studies of human metabolic diseases, identification of related drug targets, and systematic studies of drug safety and efficacy. METHODS: To this end, we studied glucose uptake and insulin responsiveness in human tissue-engineered skeletal muscle myobundles in the basal state and in response to drug treatments. RESULTS: In the human skeletal muscle myobundle system, insulin stimulates a 50% increase in 2-deoxyglucose (2-DG) uptake with a compiled EC50 of 0.27 ± 0.03 nM. Treatment of myobundles with 400㎛ㄹ metformin increased basal 2-DG uptake 1.7-fold and caused a significant drop in twitch and tetanus contractile force along with decreased fatigue resistance.Treatment with the histone deacetylase inhibitor 4-phenylbutyrate (4-PBA) increased the magnitude of insulin response from a 1.2-fold increase in glucose uptake in the untreated state to a 1.4-fold increase after 4-PBA treatment. 4-PBA treated myobundles also exhibited increased fatigue resistance and increased twitch half-relaxation time. CONCLUSION Although tissue-engineered human myobundles exhibit a modest increase in glucose uptake in response to insulin, they recapitulate key features of in vivo insulin sensitivity and exhibit relevant drug-mediated perturbations in contractile function and glucose metabolism.

BACKGROUND: Tissue-engineered muscles (‘‘myobundles’’) offer a promising platform for developing a human in vitro model of healthy and diseased muscle for drug development and testing. Compared to traditional monolayer cultures, myobundles better model the three-dimensional structure of native skeletal muscle and are amenable to diverse functional measures to monitor the muscle health and drug response. Characterizing the metabolic function of human myobundles is of particular interest to enable their utilization in mechanistic studies of human metabolic diseases, identification of related drug targets, and systematic studies of drug safety and efficacy. METHODS: To this end, we studied glucose uptake and insulin responsiveness in human tissue-engineered skeletal muscle myobundles in the basal state and in response to drug treatments. RESULTS: In the human skeletal muscle myobundle system, insulin stimulates a 50% increase in 2-deoxyglucose (2-DG) uptake with a compiled EC50 of 0.27 ± 0.03 nM. Treatment of myobundles with 400㎛ㄹ metformin increased basal 2-DG uptake 1.7-fold and caused a significant drop in twitch and tetanus contractile force along with decreased fatigue resistance.Treatment with the histone deacetylase inhibitor 4-phenylbutyrate (4-PBA) increased the magnitude of insulin response from a 1.2-fold increase in glucose uptake in the untreated state to a 1.4-fold increase after 4-PBA treatment. 4-PBA treated myobundles also exhibited increased fatigue resistance and increased twitch half-relaxation time. CONCLUSION Although tissue-engineered human myobundles exhibit a modest increase in glucose uptake in response to insulin, they recapitulate key features of in vivo insulin sensitivity and exhibit relevant drug-mediated perturbations in contractile function and glucose metabolism.

BACKGROUND: Volume resuscitation has only been demonstrated to be effective in approximately fifty percent of patients. The remaining patients do not respond to volume resuscitation and may even develop adverse outcomes (such as acute pulmonary edema necessitating endotracheal intubation). We believe that point-of-care ultrasound is an excellent modality by which to adequately predict which patients may benefit from volume resuscitation. DATA RESOURCES: We performed a search using PubMed, Scopus, and MEDLINE. The following search terms were used: fluid responsiveness, ultrasound, non-invasive, hemodynamic, fluid challenge, and passive leg raise. Preference was given to clinical trials and review articles that were most relevant to the topic of assessing a patient’s cardiovascular ability to respond to intravenous fluid administration using ultrasound. RESULTS: Point-of-care ultrasound can be easily employed to measure the diameter and collapsibility of various large vessels including the inferior vena cava, common carotid artery, subclavian vein, internal jugular vein, and femoral vein. Such parameters are closely related to dynamic measures of fluid responsiveness and can be used by providers to help guide fluid resuscitation in critically ill patients. CONCLUSION Ultrasound in combination with passive leg raise is a non-invasive, cost- and time-effective modality that can be employed to assess volume status and response to fluid resuscitation. Traditionally sonographic studies have focused on the evaluation of large veins such as the inferior vena cava, and internal jugular vein. A number of recently published studies also demonstrate the usefulness of evaluating large arteries to predict volume status.

Ehlers-Danlos Syndrome (EDS) is a hereditary disorder of the connective tissue, which has been classified into numerous subtypes over the years. EDS is generally characterized by hyperextensible skin, hypermobile joints, and tissue fragility. According to the 2017 International Classification of EDS, 13 subtypes of EDS have been recognized. The majority of genes involved in EDS are either collagen-encoding genes or genes encoding collagen-modifying enzymes. Orthopedic surgeons most commonly encounter patients with the hypermobile type EDS (hEDS), who present with signs and symptoms of hypermobility and/or instability in one or more joints. Patients with joint hypermobility syndrome (JHS) might also present with similar symptomatology. This article will focus on the surgical management of patients with knee or shoulder abnormalities related to hEDS/JHS.